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class="js-profile-view-count"></span></p></div></span></div><div class="ri-section"><div class="ri-section-header"><span>Interests</span></div><div class="ri-tags-container"><a data-click-track="profile-user-info-expand-research-interests" data-has-card-for-ri-list="37515190" href="https://www.academia.edu/Documents/in/Emergency_Medical_Services"><div id="js-react-on-rails-context" style="display:none" data-rails-context="{"inMailer":false,"i18nLocale":"en","i18nDefaultLocale":"en","href":"https://independent.academia.edu/RoccoLiguori","location":"/RoccoLiguori","scheme":"https","host":"independent.academia.edu","port":null,"pathname":"/RoccoLiguori","search":null,"httpAcceptLanguage":null,"serverSide":false}"></div> <div class="js-react-on-rails-component" style="display:none" data-component-name="Pill" data-props="{"color":"gray","children":["Emergency Medical Services"]}" data-trace="false" data-dom-id="Pill-react-component-4a91ecc6-565d-4300-b6c2-97d298126e8b"></div> <div 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id="Pill-react-component-b852d9c0-6bd3-4c4f-badb-08a145891ea2"></div> </a></div></div></div></div><div class="right-panel-container"><div class="user-content-wrapper"><div class="uploads-container" id="social-redesign-work-container"><div class="upload-header"><h2 class="ds2-5-heading-sans-serif-xs">Uploads</h2></div><div class="documents-container backbone-social-profile-documents" style="width: 100%;"><div class="u-taCenter"></div><div class="profile--tab_content_container js-tab-pane tab-pane active" id="all"><div class="profile--tab_heading_container js-section-heading" data-section="Papers" id="Papers"><h3 class="profile--tab_heading_container">Papers by Rocco Liguori</h3></div><div class="js-work-strip profile--work_container" data-work-id="103318337"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/103318337/A_comparative_blind_study_between_skin_biopsy_and_seed_amplification_assay_to_disclose_pathological_%CE%B1_synuclein_in_RBD"><img alt="Research paper thumbnail of A comparative blind study between skin biopsy and seed amplification assay to disclose pathological α-synuclein in RBD" class="work-thumbnail" src="https://attachments.academia-assets.com/103357575/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/103318337/A_comparative_blind_study_between_skin_biopsy_and_seed_amplification_assay_to_disclose_pathological_%CE%B1_synuclein_in_RBD">A comparative blind study between skin biopsy and seed amplification assay to disclose pathological α-synuclein in RBD</a></div><div class="wp-workCard_item"><span>npj Parkinson's Disease</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">To compare the diagnostic accuracy of the immunofluorescence (IF) technique and aSyn-seed amplifi...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">To compare the diagnostic accuracy of the immunofluorescence (IF) technique and aSyn-seed amplification assay (aSyn-SAA) of skin and cerebrospinal fluid (CSF) in disclosing pathological α-syn in idiopathic idiopathic REM sleep behavior disorder (iRBD) as early phase of a synucleinopathy. We prospectively recruited 41 patients with iRBD and 40 matched clinical controls including RBD associated with type 1 Narcolepsy (RBD-NT1, 21 patients), iatrogenic causes (2 pt) or OSAS (6 pt) and 11 patients with peripheral neuropathies. IF from samples taken by skin biopsy and aSyn-SAA from skin and CSF samples were analysed blinded to the clinical diagnosis. IF showed a good diagnostic accuracy (89%) that was lower in the case of skin and CSF-based aSyn-SAA (70% and 69%, respectively) because of a lower sensitivity and specificity. However, IF showed a significant agreement with CSF aSyn-SAA. In conclusion, our data may favor the use of skin biopsy and aSyn-SAA as diagnostic tools for a synuclei...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="498a05d55172f478dff8f51d2aafa3b8" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":103357575,"asset_id":103318337,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/103357575/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="103318337"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="103318337"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 103318337; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=103318337]").text(description); $(".js-view-count[data-work-id=103318337]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 103318337; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='103318337']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 103318337, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "498a05d55172f478dff8f51d2aafa3b8" } } $('.js-work-strip[data-work-id=103318337]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":103318337,"title":"A comparative blind study between skin biopsy and seed amplification assay to disclose pathological α-synuclein in RBD","translated_title":"","metadata":{"abstract":"To compare the diagnostic accuracy of the immunofluorescence (IF) technique and aSyn-seed amplification assay (aSyn-SAA) of skin and cerebrospinal fluid (CSF) in disclosing pathological α-syn in idiopathic idiopathic REM sleep behavior disorder (iRBD) as early phase of a synucleinopathy. We prospectively recruited 41 patients with iRBD and 40 matched clinical controls including RBD associated with type 1 Narcolepsy (RBD-NT1, 21 patients), iatrogenic causes (2 pt) or OSAS (6 pt) and 11 patients with peripheral neuropathies. IF from samples taken by skin biopsy and aSyn-SAA from skin and CSF samples were analysed blinded to the clinical diagnosis. IF showed a good diagnostic accuracy (89%) that was lower in the case of skin and CSF-based aSyn-SAA (70% and 69%, respectively) because of a lower sensitivity and specificity. However, IF showed a significant agreement with CSF aSyn-SAA. In conclusion, our data may favor the use of skin biopsy and aSyn-SAA as diagnostic tools for a synuclei...","publisher":"Springer Science and Business Media LLC","publication_name":"npj Parkinson's Disease"},"translated_abstract":"To compare the diagnostic accuracy of the immunofluorescence (IF) technique and aSyn-seed amplification assay (aSyn-SAA) of skin and cerebrospinal fluid (CSF) in disclosing pathological α-syn in idiopathic idiopathic REM sleep behavior disorder (iRBD) as early phase of a synucleinopathy. We prospectively recruited 41 patients with iRBD and 40 matched clinical controls including RBD associated with type 1 Narcolepsy (RBD-NT1, 21 patients), iatrogenic causes (2 pt) or OSAS (6 pt) and 11 patients with peripheral neuropathies. IF from samples taken by skin biopsy and aSyn-SAA from skin and CSF samples were analysed blinded to the clinical diagnosis. 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="97130371"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/97130371/Frequency_of_Parkinson_s_Disease_Genes_and_Role_of_PARK2_in_Amyotrophic_Lateral_Sclerosis_An_NGS_Study"><img alt="Research paper thumbnail of Frequency of Parkinson’s Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study" class="work-thumbnail" src="https://attachments.academia-assets.com/98837018/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/97130371/Frequency_of_Parkinson_s_Disease_Genes_and_Role_of_PARK2_in_Amyotrophic_Lateral_Sclerosis_An_NGS_Study">Frequency of Parkinson’s Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study</a></div><div class="wp-workCard_item"><span>Genes</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Amyotrophic lateral sclerosis (ALS) and Alzheimer’s disease (AD) patients show a higher prevalenc...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Amyotrophic lateral sclerosis (ALS) and Alzheimer’s disease (AD) patients show a higher prevalence of Lewy body disease than the general population. Additionally, parkinsonian features were found in about 30% of ALS patients. We aimed to explore the frequency of Parkinson’s disease (PD)-causative genes in ALS patients, compared to AD and healthy controls (HCs). We used next-generation sequencing multigene panels by analyzing SNCA, LRRK2, PINK1, PARK2, PARK7, SYNJ1, CHCHD2, PLA2G6, GCH1, ATP13A2, DNAJC6 and FBXO genes. GBA gene, a risk factor for PD, was also analyzed. In total, 130 ALS and 100 AD patients were investigated. PD-related genes were found to be altered in 26.2% of ALS, 20% of AD patients and 19.2% of HCs. Autosomal recessive genes were significantly more involved in ALS as compared to AD and HCs (p = 0.021). PARK2 variants were more frequent in ALS than in AD and HCs, although not significantly. However, the p.Arg402Cys variant was increased in ALS than in HCs (p = 0.02...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="25283dae9104dcb94cee5b742d204d9e" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":98837018,"asset_id":97130371,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/98837018/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="97130371"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="97130371"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 97130371; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=97130371]").text(description); $(".js-view-count[data-work-id=97130371]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 97130371; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='97130371']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 97130371, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "25283dae9104dcb94cee5b742d204d9e" } } $('.js-work-strip[data-work-id=97130371]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":97130371,"title":"Frequency of Parkinson’s Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study","translated_title":"","metadata":{"abstract":"Amyotrophic lateral sclerosis (ALS) and Alzheimer’s disease (AD) patients show a higher prevalence of Lewy body disease than the general population. Additionally, parkinsonian features were found in about 30% of ALS patients. We aimed to explore the frequency of Parkinson’s disease (PD)-causative genes in ALS patients, compared to AD and healthy controls (HCs). We used next-generation sequencing multigene panels by analyzing SNCA, LRRK2, PINK1, PARK2, PARK7, SYNJ1, CHCHD2, PLA2G6, GCH1, ATP13A2, DNAJC6 and FBXO genes. GBA gene, a risk factor for PD, was also analyzed. In total, 130 ALS and 100 AD patients were investigated. PD-related genes were found to be altered in 26.2% of ALS, 20% of AD patients and 19.2% of HCs. Autosomal recessive genes were significantly more involved in ALS as compared to AD and HCs (p = 0.021). PARK2 variants were more frequent in ALS than in AD and HCs, although not significantly. However, the p.Arg402Cys variant was increased in ALS than in HCs (p = 0.02...","publisher":"MDPI AG","publication_name":"Genes"},"translated_abstract":"Amyotrophic lateral sclerosis (ALS) and Alzheimer’s disease (AD) patients show a higher prevalence of Lewy body disease than the general population. Additionally, parkinsonian features were found in about 30% of ALS patients. We aimed to explore the frequency of Parkinson’s disease (PD)-causative genes in ALS patients, compared to AD and healthy controls (HCs). We used next-generation sequencing multigene panels by analyzing SNCA, LRRK2, PINK1, PARK2, PARK7, SYNJ1, CHCHD2, PLA2G6, GCH1, ATP13A2, DNAJC6 and FBXO genes. GBA gene, a risk factor for PD, was also analyzed. In total, 130 ALS and 100 AD patients were investigated. PD-related genes were found to be altered in 26.2% of ALS, 20% of AD patients and 19.2% of HCs. Autosomal recessive genes were significantly more involved in ALS as compared to AD and HCs (p = 0.021). PARK2 variants were more frequent in ALS than in AD and HCs, although not significantly. However, the p.Arg402Cys variant was increased in ALS than in HCs (p = 0.02...","internal_url":"https://www.academia.edu/97130371/Frequency_of_Parkinson_s_Disease_Genes_and_Role_of_PARK2_in_Amyotrophic_Lateral_Sclerosis_An_NGS_Study","translated_internal_url":"","created_at":"2023-02-18T14:31:20.558-08:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37515190,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":98837018,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/98837018/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/98837018/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Frequency_of_Parkinson_s_Disease_Genes_a.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/98837018/pdf-libre.pdf?1676767123=\u0026response-content-disposition=attachment%3B+filename%3DFrequency_of_Parkinson_s_Disease_Genes_a.pdf\u0026Expires=1732820023\u0026Signature=OJEl9GrUc2f7ba5HvHo5QHgyH6~FzpOkfZg1JJA5VL1TB6o7PoCv9w7~s87t27W7o2xK26P1n9-0craJyG2vXDN80WyMkihi4H0l1NBsw6ANJKp3iNn6WVfAPFjm08~3WdiU-lRJi1xvXe9ddjjZfR2fL0gWIQf9HeX6rMyYpxNjIrpffZwIIIqgbHcLEzOmLDBAhPZCuyFI6cDeQe-5KBabwS1TNELmgEy41R8hn~zdi2Mc63yMjm1P4hrKF6Rlt0B2Ps6zcseFZ-yORPR1~1ghj2wSxYF94iR481oE0M7yE4pX~e8FomFVN4rBDjJtlYKts-Ul--aJg0gyTDRDTQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Frequency_of_Parkinson_s_Disease_Genes_and_Role_of_PARK2_in_Amyotrophic_Lateral_Sclerosis_An_NGS_Study","translated_slug":"","page_count":10,"language":"en","content_type":"Work","owner":{"id":37515190,"first_name":"Rocco","middle_initials":null,"last_name":"Liguori","page_name":"RoccoLiguori","domain_name":"independent","created_at":"2015-11-02T22:11:11.958-08:00","display_name":"Rocco Liguori","url":"https://independent.academia.edu/RoccoLiguori"},"attachments":[{"id":98837018,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/98837018/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/98837018/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Frequency_of_Parkinson_s_Disease_Genes_a.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/98837018/pdf-libre.pdf?1676767123=\u0026response-content-disposition=attachment%3B+filename%3DFrequency_of_Parkinson_s_Disease_Genes_a.pdf\u0026Expires=1732820023\u0026Signature=OJEl9GrUc2f7ba5HvHo5QHgyH6~FzpOkfZg1JJA5VL1TB6o7PoCv9w7~s87t27W7o2xK26P1n9-0craJyG2vXDN80WyMkihi4H0l1NBsw6ANJKp3iNn6WVfAPFjm08~3WdiU-lRJi1xvXe9ddjjZfR2fL0gWIQf9HeX6rMyYpxNjIrpffZwIIIqgbHcLEzOmLDBAhPZCuyFI6cDeQe-5KBabwS1TNELmgEy41R8hn~zdi2Mc63yMjm1P4hrKF6Rlt0B2Ps6zcseFZ-yORPR1~1ghj2wSxYF94iR481oE0M7yE4pX~e8FomFVN4rBDjJtlYKts-Ul--aJg0gyTDRDTQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"},{"id":98837017,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/98837017/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/98837017/download_file","bulk_download_file_name":"Frequency_of_Parkinson_s_Disease_Genes_a.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/98837017/pdf-libre.pdf?1676767122=\u0026response-content-disposition=attachment%3B+filename%3DFrequency_of_Parkinson_s_Disease_Genes_a.pdf\u0026Expires=1732820023\u0026Signature=UxsO5lww3HXtGgfaiv-Sf1B05vSHMuVz48iADHqM3G8j0QQneW1q5Afq2oXMjBTth8Tk7tatyYbuCwhkb-ajUmR50iafREUZALPRNRkOFSoxvJQEmB9Wl6SNo-k5Xm32cBq0wlkTgYRBA11cllMvds~TBEzizZl3sDftnMqH2IJYWrwYa2JzGcp6fewuG4YjeS0Yx8Wbb7EOgQ~pFaq8OzcGYlnHoO9IBYJqZqRJGxNDTbUjmI4F4V14zb1h~KhYmNo8q3n8-EfJghcXz5Iif9UgDbrrW94uGu2glIL3qIgnSuj534drYqO4MN7IHfdMyBskK4VYxOLGED12~lNJ6w__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":4670,"name":"Pathogenesis","url":"https://www.academia.edu/Documents/in/Pathogenesis"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":42973,"name":"Amyotrophic Lateral Sclerosis","url":"https://www.academia.edu/Documents/in/Amyotrophic_Lateral_Sclerosis"},{"id":99773,"name":"Disease","url":"https://www.academia.edu/Documents/in/Disease"},{"id":181936,"name":"Gene","url":"https://www.academia.edu/Documents/in/Gene"},{"id":233229,"name":"Genes","url":"https://www.academia.edu/Documents/in/Genes"},{"id":589153,"name":"Pink","url":"https://www.academia.edu/Documents/in/Pink"},{"id":920888,"name":"Parkin","url":"https://www.academia.edu/Documents/in/Parkin"},{"id":1134529,"name":"Parkinson´s Disease","url":"https://www.academia.edu/Documents/in/Parkinson_s_Disease"}],"urls":[{"id":29091715,"url":"https://www.mdpi.com/2073-4425/13/8/1306/pdf"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="97130370"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/97130370/Plasma_and_CSF_Neurofilament_Light_Chain_in_Amyotrophic_Lateral_Sclerosis_A_Cross_Sectional_and_Longitudinal_Study"><img alt="Research paper thumbnail of Plasma and CSF Neurofilament Light Chain in Amyotrophic Lateral Sclerosis: A Cross-Sectional and Longitudinal Study" class="work-thumbnail" src="https://attachments.academia-assets.com/98837064/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/97130370/Plasma_and_CSF_Neurofilament_Light_Chain_in_Amyotrophic_Lateral_Sclerosis_A_Cross_Sectional_and_Longitudinal_Study">Plasma and CSF Neurofilament Light Chain in Amyotrophic Lateral Sclerosis: A Cross-Sectional and Longitudinal Study</a></div><div class="wp-workCard_item"><span>Frontiers in Aging Neuroscience</span><span>, 2021</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Background: Neurofilament light chain (NfL) is a validated biofluid marker of neuroaxonal damage ...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Background: Neurofilament light chain (NfL) is a validated biofluid marker of neuroaxonal damage with great potential for monitoring patients with neurodegenerative diseases. We aimed to further validate the clinical utility of plasma (p) vs. CSF (c) NfL for distinguishing patients with Amyotrophic Lateral Sclerosis (ALS) from ALS mimics. We also assessed the association of biomarker values with clinical variables and survival and established the longitudinal changes of pNfL during the disease course.Methods: We studied 231 prospectively enrolled patients with suspected ALS who underwent a standardized protocol including neurological examination, electromyography, brain MRI, and lumbar puncture. Patients who received an alternative clinical diagnosis were considered ALS mimics. We classified the patients based on the disease progression rate (DPR) into fast (DPR &gt; 1), intermediate (DPR 0.5–1), and slow progressors (DPR &lt; 0.5). All patients were screened for the most frequent A...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="107f18a796d4f50252b4c1d497548d55" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":98837064,"asset_id":97130370,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/98837064/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="97130370"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="97130370"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 97130370; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=97130370]").text(description); $(".js-view-count[data-work-id=97130370]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 97130370; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='97130370']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 97130370, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "107f18a796d4f50252b4c1d497548d55" } } $('.js-work-strip[data-work-id=97130370]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":97130370,"title":"Plasma and CSF Neurofilament Light Chain in Amyotrophic Lateral Sclerosis: A Cross-Sectional and Longitudinal Study","translated_title":"","metadata":{"abstract":"Background: Neurofilament light chain (NfL) is a validated biofluid marker of neuroaxonal damage with great potential for monitoring patients with neurodegenerative diseases. We aimed to further validate the clinical utility of plasma (p) vs. CSF (c) NfL for distinguishing patients with Amyotrophic Lateral Sclerosis (ALS) from ALS mimics. We also assessed the association of biomarker values with clinical variables and survival and established the longitudinal changes of pNfL during the disease course.Methods: We studied 231 prospectively enrolled patients with suspected ALS who underwent a standardized protocol including neurological examination, electromyography, brain MRI, and lumbar puncture. Patients who received an alternative clinical diagnosis were considered ALS mimics. We classified the patients based on the disease progression rate (DPR) into fast (DPR \u0026gt; 1), intermediate (DPR 0.5–1), and slow progressors (DPR \u0026lt; 0.5). All patients were screened for the most frequent A...","publisher":"Frontiers Media SA","publication_date":{"day":null,"month":null,"year":2021,"errors":{}},"publication_name":"Frontiers in Aging Neuroscience"},"translated_abstract":"Background: Neurofilament light chain (NfL) is a validated biofluid marker of neuroaxonal damage with great potential for monitoring patients with neurodegenerative diseases. We aimed to further validate the clinical utility of plasma (p) vs. CSF (c) NfL for distinguishing patients with Amyotrophic Lateral Sclerosis (ALS) from ALS mimics. We also assessed the association of biomarker values with clinical variables and survival and established the longitudinal changes of pNfL during the disease course.Methods: We studied 231 prospectively enrolled patients with suspected ALS who underwent a standardized protocol including neurological examination, electromyography, brain MRI, and lumbar puncture. Patients who received an alternative clinical diagnosis were considered ALS mimics. We classified the patients based on the disease progression rate (DPR) into fast (DPR \u0026gt; 1), intermediate (DPR 0.5–1), and slow progressors (DPR \u0026lt; 0.5). 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="97130366"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/97130366/Orthodromic_sensory_conduction_along_the_ring_finger_in_normal_subjects_and_in_patients_with_a_carpal_tunnel_syndrome"><img alt="Research paper thumbnail of Orthodromic sensory conduction along the ring finger in normal subjects and in patients with a carpal tunnel syndrome" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/97130366/Orthodromic_sensory_conduction_along_the_ring_finger_in_normal_subjects_and_in_patients_with_a_carpal_tunnel_syndrome">Orthodromic sensory conduction along the ring finger in normal subjects and in patients with a carpal tunnel syndrome</a></div><div class="wp-workCard_item"><span>Electroencephalography and Clinical Neurophysiology/Evoked Potentials Section</span><span>, 1991</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">The purpose of the present study was to examine the value of measuring sensory conduction along t...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">The purpose of the present study was to examine the value of measuring sensory conduction along the median and ulnar nerves of the fourth finger in the diagnosis of a carpal tunnel syndrome (CTS). In 23 controls, sensory conductions along median and ulnar nerves were identical. In 28 of 38 patients with CTS, stimulation of the ring finger revealed a reduced conduction velocity along sensory median nerve fibres in contrast to normal conduction along ulnar sensory nerve fibres. In 5 patients, a sensory action potential was absent over the median nerve and in another 5 sensory conduction was normal along both nerves. We conclude that testing of sensory conduction along the ring finger is useful in about 74% of patients with CTS, while in the remaining 26% other fingers must be examined to establish the diagnosis.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="97130366"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="97130366"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 97130366; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=97130366]").text(description); $(".js-view-count[data-work-id=97130366]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 97130366; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='97130366']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 97130366, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=97130366]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":97130366,"title":"Orthodromic sensory conduction along the ring finger in normal subjects and in patients with a carpal tunnel syndrome","translated_title":"","metadata":{"abstract":"The purpose of the present study was to examine the value of measuring sensory conduction along the median and ulnar nerves of the fourth finger in the diagnosis of a carpal tunnel syndrome (CTS). In 23 controls, sensory conductions along median and ulnar nerves were identical. In 28 of 38 patients with CTS, stimulation of the ring finger revealed a reduced conduction velocity along sensory median nerve fibres in contrast to normal conduction along ulnar sensory nerve fibres. In 5 patients, a sensory action potential was absent over the median nerve and in another 5 sensory conduction was normal along both nerves. We conclude that testing of sensory conduction along the ring finger is useful in about 74% of patients with CTS, while in the remaining 26% other fingers must be examined to establish the diagnosis.","publisher":"Elsevier BV","publication_date":{"day":null,"month":null,"year":1991,"errors":{}},"publication_name":"Electroencephalography and Clinical Neurophysiology/Evoked Potentials Section"},"translated_abstract":"The purpose of the present study was to examine the value of measuring sensory conduction along the median and ulnar nerves of the fourth finger in the diagnosis of a carpal tunnel syndrome (CTS). In 23 controls, sensory conductions along median and ulnar nerves were identical. In 28 of 38 patients with CTS, stimulation of the ring finger revealed a reduced conduction velocity along sensory median nerve fibres in contrast to normal conduction along ulnar sensory nerve fibres. In 5 patients, a sensory action potential was absent over the median nerve and in another 5 sensory conduction was normal along both nerves. We conclude that testing of sensory conduction along the ring finger is useful in about 74% of patients with CTS, while in the remaining 26% other fingers must be examined to establish the diagnosis.","internal_url":"https://www.academia.edu/97130366/Orthodromic_sensory_conduction_along_the_ring_finger_in_normal_subjects_and_in_patients_with_a_carpal_tunnel_syndrome","translated_internal_url":"","created_at":"2023-02-18T14:31:19.821-08:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37515190,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Orthodromic_sensory_conduction_along_the_ring_finger_in_normal_subjects_and_in_patients_with_a_carpal_tunnel_syndrome","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":37515190,"first_name":"Rocco","middle_initials":null,"last_name":"Liguori","page_name":"RoccoLiguori","domain_name":"independent","created_at":"2015-11-02T22:11:11.958-08:00","display_name":"Rocco Liguori","url":"https://independent.academia.edu/RoccoLiguori"},"attachments":[],"research_interests":[{"id":221,"name":"Psychology","url":"https://www.academia.edu/Documents/in/Psychology"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":54589,"name":"Anatomy","url":"https://www.academia.edu/Documents/in/Anatomy"},{"id":119665,"name":"Reaction Time","url":"https://www.academia.edu/Documents/in/Reaction_Time"},{"id":134095,"name":"Muscles","url":"https://www.academia.edu/Documents/in/Muscles"},{"id":170918,"name":"Electromyography","url":"https://www.academia.edu/Documents/in/Electromyography"},{"id":220450,"name":"Carpal Tunnel Syndrome","url":"https://www.academia.edu/Documents/in/Carpal_Tunnel_Syndrome"},{"id":263020,"name":"Clinical Neurophysiology","url":"https://www.academia.edu/Documents/in/Clinical_Neurophysiology"},{"id":289271,"name":"Aged","url":"https://www.academia.edu/Documents/in/Aged"},{"id":500368,"name":"Hand","url":"https://www.academia.edu/Documents/in/Hand"},{"id":585241,"name":"Conduction Velocity","url":"https://www.academia.edu/Documents/in/Conduction_Velocity"},{"id":1028516,"name":"Fingers","url":"https://www.academia.edu/Documents/in/Fingers"},{"id":1292776,"name":"Nerve Conduction Velocity","url":"https://www.academia.edu/Documents/in/Nerve_Conduction_Velocity"},{"id":1292780,"name":"Median Nerve","url":"https://www.academia.edu/Documents/in/Median_Nerve"},{"id":2079177,"name":"Forearm","url":"https://www.academia.edu/Documents/in/Forearm"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="97130365"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/97130365/Muscle_sympathetic_response_to_arousal_predicts_neurovascular_reactivity_during_mental_stress"><img alt="Research paper thumbnail of Muscle sympathetic response to arousal predicts neurovascular reactivity during mental stress" class="work-thumbnail" src="https://attachments.academia-assets.com/98837109/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/97130365/Muscle_sympathetic_response_to_arousal_predicts_neurovascular_reactivity_during_mental_stress">Muscle sympathetic response to arousal predicts neurovascular reactivity during mental stress</a></div><div class="wp-workCard_item"><span>The Journal of Physiology</span><span>, 2012</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="eeaac68cc0cc305e0b8071f7c61c4bca" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":98837109,"asset_id":97130365,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/98837109/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="97130365"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="97130365"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 97130365; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=97130365]").text(description); $(".js-view-count[data-work-id=97130365]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 97130365; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='97130365']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 97130365, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); 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Both phases induce blood pressure (BP) increases whereas effects on muscle sympathetic nerve activity (MSNA) vary: in approximately 50% of healthy subjects (responders) arousal induces a brief MSNA reduction, which is absent in the remaining 50% (non-responders). • We now report a link between the arousal response and neurovascular effects of MS in healthy males. • Our data show that during MS, responders to arousal exhibited a significant decrease of MSNA and a lesser BP increase compared to non-responders. The whole material displayed a positive correlation between MSNA responses induced by arousal and MS. 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thumbnail of Hemifacial spasm in sleep" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/97130364/Hemifacial_spasm_in_sleep">Hemifacial spasm in sleep</a></div><div class="wp-workCard_item"><span>Neurology</span><span>, 1986</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">We conducted polygraphic studies during wakefulness and all-night sleep in 13 patients with crypt...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">We conducted polygraphic studies during wakefulness and all-night sleep in 13 patients with cryptogenic and 3 with postparalytic hemifacial spasm. The movements decreased progressively with deepening sleep stages, reaching lowest values in REM sleep. The reduction was inversely related to the severity of movements during wakefulness. There was no relation between hemifacial spasm and mimic activity on the unaffected side. Central inhibitory processes may account for the partial decline in intensity of the movements in sleep.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="97130364"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="97130364"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 97130364; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=97130364]").text(description); $(".js-view-count[data-work-id=97130364]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 97130364; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='97130364']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 97130364, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=97130364]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":97130364,"title":"Hemifacial spasm in sleep","translated_title":"","metadata":{"abstract":"We conducted polygraphic studies during wakefulness and all-night sleep in 13 patients with cryptogenic and 3 with postparalytic hemifacial spasm. The movements decreased progressively with deepening sleep stages, reaching lowest values in REM sleep. The reduction was inversely related to the severity of movements during wakefulness. There was no relation between hemifacial spasm and mimic activity on the unaffected side. Central inhibitory processes may account for the partial decline in intensity of the movements in sleep.","publisher":"Ovid Technologies (Wolters Kluwer Health)","publication_date":{"day":null,"month":null,"year":1986,"errors":{}},"publication_name":"Neurology"},"translated_abstract":"We conducted polygraphic studies during wakefulness and all-night sleep in 13 patients with cryptogenic and 3 with postparalytic hemifacial spasm. The movements decreased progressively with deepening sleep stages, reaching lowest values in REM sleep. The reduction was inversely related to the severity of movements during wakefulness. There was no relation between hemifacial spasm and mimic activity on the unaffected side. Central inhibitory processes may account for the partial decline in intensity of the movements in sleep.","internal_url":"https://www.academia.edu/97130364/Hemifacial_spasm_in_sleep","translated_internal_url":"","created_at":"2023-02-18T14:31:19.520-08:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37515190,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Hemifacial_spasm_in_sleep","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":37515190,"first_name":"Rocco","middle_initials":null,"last_name":"Liguori","page_name":"RoccoLiguori","domain_name":"independent","created_at":"2015-11-02T22:11:11.958-08:00","display_name":"Rocco Liguori","url":"https://independent.academia.edu/RoccoLiguori"},"attachments":[],"research_interests":[{"id":237,"name":"Cognitive Science","url":"https://www.academia.edu/Documents/in/Cognitive_Science"},{"id":623,"name":"Neurology","url":"https://www.academia.edu/Documents/in/Neurology"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":133324,"name":"Sleep","url":"https://www.academia.edu/Documents/in/Sleep"},{"id":170918,"name":"Electromyography","url":"https://www.academia.edu/Documents/in/Electromyography"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":289271,"name":"Aged","url":"https://www.academia.edu/Documents/in/Aged"},{"id":294768,"name":"Wakefulness","url":"https://www.academia.edu/Documents/in/Wakefulness"},{"id":592786,"name":"Rem Sleep","url":"https://www.academia.edu/Documents/in/Rem_Sleep"},{"id":1239755,"name":"Neurosciences","url":"https://www.academia.edu/Documents/in/Neurosciences"},{"id":1772810,"name":"Sleep Stages","url":"https://www.academia.edu/Documents/in/Sleep_Stages"},{"id":2467158,"name":"Hemifacial spasm","url":"https://www.academia.edu/Documents/in/Hemifacial_spasm"},{"id":2517850,"name":"spasm","url":"https://www.academia.edu/Documents/in/spasm"}],"urls":[{"id":29091709,"url":"http://journals.lww.com/00006114-198602000-00026"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="97130363"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/97130363/ESTEEM_European_Standardised_Telematic_Tool_to_Evaluate_EMG_Knowledge_Based_Systems_and_Methods_AIM_Project_A2010"><img alt="Research paper thumbnail of ESTEEM (European Standardised Telematic Tool to Evaluate EMG Knowledge-Based Systems and Methods): AIM Project A2010" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/97130363/ESTEEM_European_Standardised_Telematic_Tool_to_Evaluate_EMG_Knowledge_Based_Systems_and_Methods_AIM_Project_A2010">ESTEEM (European Standardised Telematic Tool to Evaluate EMG Knowledge-Based Systems and Methods): AIM Project A2010</a></div><div class="wp-workCard_item"><span>Computer Methods and Programs in Biomedicine</span><span>, 1994</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">ESTEEM is an AIM project which is primarily concerned with how to develop, integrate and clinical...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">ESTEEM is an AIM project which is primarily concerned with how to develop, integrate and clinically test knowledge-based systems for electromyography (EMG) in order to get them generally acceptable, useful and applicable into disseminated clinical routines. A medical workstation entitled the &amp;#39;EMG-Platform&amp;#39; on which different kinds of application modules including KBSs can be interfaced to a kernel is being developed. Accordingly, an EMG communication protocol is being developed. The ESTEEM consortium is composed of a technical specialist group and a group of clinical experts in EMG from seven European countries. The last group has, besides extensive data collection for building up a multicentre EMG database, agreed on a common EMG terminology and a subsequent general EMG data set specification which covers the informatic needs for describing an EMG examination of different &amp;#39;EMG schools&amp;#39;.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="97130363"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="97130363"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 97130363; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=97130363]").text(description); $(".js-view-count[data-work-id=97130363]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 97130363; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='97130363']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 97130363, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=97130363]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":97130363,"title":"ESTEEM (European Standardised Telematic Tool to Evaluate EMG Knowledge-Based Systems and Methods): AIM Project A2010","translated_title":"","metadata":{"abstract":"ESTEEM is an AIM project which is primarily concerned with how to develop, integrate and clinically test knowledge-based systems for electromyography (EMG) in order to get them generally acceptable, useful and applicable into disseminated clinical routines. A medical workstation entitled the \u0026amp;#39;EMG-Platform\u0026amp;#39; on which different kinds of application modules including KBSs can be interfaced to a kernel is being developed. Accordingly, an EMG communication protocol is being developed. The ESTEEM consortium is composed of a technical specialist group and a group of clinical experts in EMG from seven European countries. The last group has, besides extensive data collection for building up a multicentre EMG database, agreed on a common EMG terminology and a subsequent general EMG data set specification which covers the informatic needs for describing an EMG examination of different \u0026amp;#39;EMG schools\u0026amp;#39;.","publisher":"Elsevier BV","publication_date":{"day":null,"month":null,"year":1994,"errors":{}},"publication_name":"Computer Methods and Programs in Biomedicine"},"translated_abstract":"ESTEEM is an AIM project which is primarily concerned with how to develop, integrate and clinically test knowledge-based systems for electromyography (EMG) in order to get them generally acceptable, useful and applicable into disseminated clinical routines. A medical workstation entitled the \u0026amp;#39;EMG-Platform\u0026amp;#39; on which different kinds of application modules including KBSs can be interfaced to a kernel is being developed. Accordingly, an EMG communication protocol is being developed. The ESTEEM consortium is composed of a technical specialist group and a group of clinical experts in EMG from seven European countries. The last group has, besides extensive data collection for building up a multicentre EMG database, agreed on a common EMG terminology and a subsequent general EMG data set specification which covers the informatic needs for describing an EMG examination of different \u0026amp;#39;EMG schools\u0026amp;#39;.","internal_url":"https://www.academia.edu/97130363/ESTEEM_European_Standardised_Telematic_Tool_to_Evaluate_EMG_Knowledge_Based_Systems_and_Methods_AIM_Project_A2010","translated_internal_url":"","created_at":"2023-02-18T14:31:19.387-08:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37515190,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"ESTEEM_European_Standardised_Telematic_Tool_to_Evaluate_EMG_Knowledge_Based_Systems_and_Methods_AIM_Project_A2010","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":37515190,"first_name":"Rocco","middle_initials":null,"last_name":"Liguori","page_name":"RoccoLiguori","domain_name":"independent","created_at":"2015-11-02T22:11:11.958-08:00","display_name":"Rocco Liguori","url":"https://independent.academia.edu/RoccoLiguori"},"attachments":[],"research_interests":[{"id":422,"name":"Computer Science","url":"https://www.academia.edu/Documents/in/Computer_Science"},{"id":470,"name":"Expert Systems","url":"https://www.academia.edu/Documents/in/Expert_Systems"},{"id":1131,"name":"Biomedical Engineering","url":"https://www.academia.edu/Documents/in/Biomedical_Engineering"},{"id":5832,"name":"Terminology","url":"https://www.academia.edu/Documents/in/Terminology"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":42277,"name":"Knowledge Based System","url":"https://www.academia.edu/Documents/in/Knowledge_Based_System"},{"id":75826,"name":"Europe","url":"https://www.academia.edu/Documents/in/Europe"},{"id":145675,"name":"Standardisation","url":"https://www.academia.edu/Documents/in/Standardisation"},{"id":170918,"name":"Electromyography","url":"https://www.academia.edu/Documents/in/Electromyography"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="97130362"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/97130362/Sleep_stage_related_changes_in_sympathetic_sudomotor_and_vasomotor_skin_responses_in_man"><img alt="Research paper thumbnail of Sleep stage-related changes in sympathetic sudomotor and vasomotor skin responses in man" class="work-thumbnail" src="https://attachments.academia-assets.com/98837114/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/97130362/Sleep_stage_related_changes_in_sympathetic_sudomotor_and_vasomotor_skin_responses_in_man">Sleep stage-related changes in sympathetic sudomotor and vasomotor skin responses in man</a></div><div class="wp-workCard_item"><span>Clinical Neurophysiology</span><span>, 2000</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="c95ef0b927d2c45b0ae9d0b33797ee60" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":98837114,"asset_id":97130362,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/98837114/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="97130362"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="97130362"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 97130362; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=97130362]").text(description); $(".js-view-count[data-work-id=97130362]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 97130362; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='97130362']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 97130362, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "c95ef0b927d2c45b0ae9d0b33797ee60" } } $('.js-work-strip[data-work-id=97130362]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":97130362,"title":"Sleep stage-related changes in sympathetic sudomotor and vasomotor skin responses in man","translated_title":"","metadata":{"publisher":"Elsevier BV","grobid_abstract":"Objectives: The aim of the study was to evaluate the characteristics of the spontaneous and evoked sympathetic skin responses (SSR) during sleep and wakefulness in comparison with the skin vasomotor responses (SVR). Methods: Five healthy subjects underwent a night of videopolysomnographic recording. Spontaneous SSR were recorded via surface electrodes placed on the dorsal and ventral aspect of the hand while SVR were evaluated by means of an infrared photoelectric transducer placed on the index ®nger. SSR and SVR were evoked via electrical stimuli applied to the left supraorbital nerve. Results: Spontaneous SSR frequency was highest during stage 4 of NREM sleep and lowest during REM phases. On the contrary, spontaneous SVR frequency reached its lowest value during stage 4 and its highest value during stage 2 of NREM sleep, remaining at levels above waking values during REM. SSR could be elicited by stimuli inducing arousal during light sleep but it was absent during deep NREM and REM sleep. SVR could be evoked throughout NREM and REM sleep. Conclusions: Spontaneous SSR and SVR act differently during physiological modi®cations of vigilance. Evoked SSR is strictly dependent upon the state of vigilance, whereas evoked SVR shows no modi®cations during the different stages of the wake±sleep cycle.","publication_date":{"day":null,"month":null,"year":2000,"errors":{}},"publication_name":"Clinical 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src="https://attachments.academia-assets.com/98837049/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/97130361/A_Defective_SERCA1_Protein_Is_Responsible_for_Congenital_Pseudomyotonia_in_Chianina_Cattle">A Defective SERCA1 Protein Is Responsible for Congenital Pseudomyotonia in Chianina Cattle</a></div><div class="wp-workCard_item"><span>The American Journal of Pathology</span><span>, 2009</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="bff7d6f83bea0979025de11d8546fb28" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":98837049,"asset_id":97130361,"asset_type":"Work","button_location":"profile"}" 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})(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "bff7d6f83bea0979025de11d8546fb28" } } $('.js-work-strip[data-work-id=97130361]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":97130361,"title":"A Defective SERCA1 Protein Is Responsible for Congenital Pseudomyotonia in Chianina Cattle","translated_title":"","metadata":{"publisher":"Elsevier BV","grobid_abstract":"Recently, a muscular disorder defined as \"congenital pseudomyotonia\" was described in Chianina cattle, one of the most important Italian cattle breeds for quality meat and leather. The clinical phenotype of this disease is characterized by an exercise-induced muscle contracture that prevents animals from performing muscular activities. On the basis of clinical symptoms, Chianina pseudomyotonia appeared related to human Brody's disease, a rare inherited disorder of skeletal muscle function that results from a sarcoplasmic reticulum Ca 2؉-ATPase (SERCA1) deficiency caused by a defect in the ATP2A1 gene that encodes SERCA1. SERCA1 is involved in transporting calcium from the cytosol to the lumen of the sarcoplasmic reticulum. Recently, we identified the genetic defect underlying Chianina cattle pseudomyotonia. A missense mutation in exon 6 of the ATP2A1 gene, leading to an R164H substitution in the SERCA1 protein, was found. In this study, we provide biochemical evidence for a selective deficiency in SERCA1 protein levels in sarcoplasmic reticulum membranes from affected muscles, although mRNA levels are unaffected. The reduction of SERCA1 levels accounts for the reduced Ca 2؉-ATPase activity without any significant change in Ca 2؉-dependency. The loss of SERCA1 is not compensated for by the expression of the SERCA2 isoform. We believe that Chianina cattle pseudomyotonia might, therefore, be the true counterpart of human Brody's disease, and that bovine species might be used as a suitable animal model.","publication_date":{"day":null,"month":null,"year":2009,"errors":{}},"publication_name":"The American Journal of Pathology","grobid_abstract_attachment_id":98837049},"translated_abstract":null,"internal_url":"https://www.academia.edu/97130361/A_Defective_SERCA1_Protein_Is_Responsible_for_Congenital_Pseudomyotonia_in_Chianina_Cattle","translated_internal_url":"","created_at":"2023-02-18T14:31:19.088-08:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37515190,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":98837049,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/98837049/thumbnails/1.jpg","file_name":"ptpmcrender.pdf","download_url":"https://www.academia.edu/attachments/98837049/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"A_Defective_SERCA1_Protein_Is_Responsibl.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/98837049/ptpmcrender-libre.pdf?1676767119=\u0026response-content-disposition=attachment%3B+filename%3DA_Defective_SERCA1_Protein_Is_Responsibl.pdf\u0026Expires=1732820023\u0026Signature=NMMSpmGHX6ghRp~E9Fk3S3yicMA2jZ-cBc5wVaXQFIqVV~8OoRJPr4hpmdcx~z4oeaQOCCsuBwjZJ-3AslbveYeIu2HA954faQP6qLla8NNnvuckaw35znvq0p6296UH9zn7LXD2OCl0nSG9uo6-lW0soo~SrIowBymGrj4Z69xvcPP5R7qqD1TyB2WqLegM8fUnQR38Q1AFWKTYxCoJYrRwklSQTP6HWhjD9m~9ejowVgZDIvyxkuMSpgSFx60H2RRnAw4eHcwfUjmYY~eXL6UoyMeGr3hNBH22HyBZnMBAfDmrJhbAxzTffMw2F~mPYbJAX7DTZIpArf9hYGIycA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"A_Defective_SERCA1_Protein_Is_Responsible_for_Congenital_Pseudomyotonia_in_Chianina_Cattle","translated_slug":"","page_count":9,"language":"en","content_type":"Work","owner":{"id":37515190,"first_name":"Rocco","middle_initials":null,"last_name":"Liguori","page_name":"RoccoLiguori","domain_name":"independent","created_at":"2015-11-02T22:11:11.958-08:00","display_name":"Rocco Liguori","url":"https://independent.academia.edu/RoccoLiguori"},"attachments":[{"id":98837049,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/98837049/thumbnails/1.jpg","file_name":"ptpmcrender.pdf","download_url":"https://www.academia.edu/attachments/98837049/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"A_Defective_SERCA1_Protein_Is_Responsibl.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/98837049/ptpmcrender-libre.pdf?1676767119=\u0026response-content-disposition=attachment%3B+filename%3DA_Defective_SERCA1_Protein_Is_Responsibl.pdf\u0026Expires=1732820023\u0026Signature=NMMSpmGHX6ghRp~E9Fk3S3yicMA2jZ-cBc5wVaXQFIqVV~8OoRJPr4hpmdcx~z4oeaQOCCsuBwjZJ-3AslbveYeIu2HA954faQP6qLla8NNnvuckaw35znvq0p6296UH9zn7LXD2OCl0nSG9uo6-lW0soo~SrIowBymGrj4Z69xvcPP5R7qqD1TyB2WqLegM8fUnQR38Q1AFWKTYxCoJYrRwklSQTP6HWhjD9m~9ejowVgZDIvyxkuMSpgSFx60H2RRnAw4eHcwfUjmYY~eXL6UoyMeGr3hNBH22HyBZnMBAfDmrJhbAxzTffMw2F~mPYbJAX7DTZIpArf9hYGIycA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":4228,"name":"Skeletal muscle biology","url":"https://www.academia.edu/Documents/in/Skeletal_muscle_biology"},{"id":7700,"name":"Fluorescence Microscopy","url":"https://www.academia.edu/Documents/in/Fluorescence_Microscopy"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":10225,"name":"Agriculture","url":"https://www.academia.edu/Documents/in/Agriculture"},{"id":12071,"name":"Immunohistochemistry","url":"https://www.academia.edu/Documents/in/Immunohistochemistry"},{"id":18533,"name":"Confocal Microscopy","url":"https://www.academia.edu/Documents/in/Confocal_Microscopy"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":37834,"name":"Western blotting","url":"https://www.academia.edu/Documents/in/Western_blotting"},{"id":151448,"name":"American","url":"https://www.academia.edu/Documents/in/American"},{"id":260829,"name":"Cattle","url":"https://www.academia.edu/Documents/in/Cattle"},{"id":357849,"name":"Skeletal Muscle","url":"https://www.academia.edu/Documents/in/Skeletal_Muscle"},{"id":2350842,"name":"Sarcoplasmic reticulum","url":"https://www.academia.edu/Documents/in/Sarcoplasmic_reticulum"},{"id":3067128,"name":"reverse transcriptase polymerase chain reaction","url":"https://www.academia.edu/Documents/in/reverse_transcriptase_polymerase_chain_reaction"},{"id":3763225,"name":"Medical and Health Sciences","url":"https://www.academia.edu/Documents/in/Medical_and_Health_Sciences"}],"urls":[{"id":29091707,"url":"https://api.elsevier.com/content/article/PII:S0002944010613144?httpAccept=text/xml"}]}, dispatcherData: dispatcherData }); 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Patients with lingual neuropathy had reduced/absent or delayed compound sensory action potentials and normal conduction along the fibers of the inferior alveolar nerve and mandibular nerve. 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="84996593"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/84996593/COVID_19_and_the_Brain_The_Neuropathological_Italian_Experience_on_33_Adult_Autopsies"><img alt="Research paper thumbnail of COVID-19 and the Brain: The Neuropathological Italian Experience on 33 Adult Autopsies" class="work-thumbnail" src="https://attachments.academia-assets.com/89833718/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/84996593/COVID_19_and_the_Brain_The_Neuropathological_Italian_Experience_on_33_Adult_Autopsies">COVID-19 and the Brain: The Neuropathological Italian Experience on 33 Adult Autopsies</a></div><div class="wp-workCard_item"><span>Biomolecules</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Neurological symptoms are increasingly recognized in SARS-CoV-2 infected individuals. However, th...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Neurological symptoms are increasingly recognized in SARS-CoV-2 infected individuals. However, the neuropathogenesis remains unclear and it is not possible to define a specific damage pattern due to brain virus infection. In the present study, 33 cases of brain autopsies performed during the first (February–April 2020) and the second/third (November 2020–April 2021) pandemic waves are described. In all the cases, SARS-CoV-2 RNA was searched. Pathological findings are described and compared with those presently published.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="bf9b67d095c06c88bb4f4804f184f7ca" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":89833718,"asset_id":84996593,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/89833718/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="84996593"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="84996593"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 84996593; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=84996593]").text(description); $(".js-view-count[data-work-id=84996593]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 84996593; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='84996593']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 84996593, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "bf9b67d095c06c88bb4f4804f184f7ca" } } $('.js-work-strip[data-work-id=84996593]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":84996593,"title":"COVID-19 and the Brain: The Neuropathological Italian Experience on 33 Adult Autopsies","translated_title":"","metadata":{"abstract":"Neurological symptoms are increasingly recognized in SARS-CoV-2 infected individuals. 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="84996588"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/84996588/Epidemiological_Clinical_and_Genetic_Features_of_ALS_in_the_Last_Decade_A_Prospective_Population_Based_Study_in_the_Emilia_Romagna_Region_of_Italy"><img alt="Research paper thumbnail of Epidemiological, Clinical and Genetic Features of ALS in the Last Decade: A Prospective Population-Based Study in the Emilia Romagna Region of Italy" class="work-thumbnail" src="https://attachments.academia-assets.com/89833714/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/84996588/Epidemiological_Clinical_and_Genetic_Features_of_ALS_in_the_Last_Decade_A_Prospective_Population_Based_Study_in_the_Emilia_Romagna_Region_of_Italy">Epidemiological, Clinical and Genetic Features of ALS in the Last Decade: A Prospective Population-Based Study in the Emilia Romagna Region of Italy</a></div><div class="wp-workCard_item"><span>Biomedicines</span><span>, 2022</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Increased incidence rates of amyotrophic lateral sclerosis (ALS) have been recently reported acro...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Increased incidence rates of amyotrophic lateral sclerosis (ALS) have been recently reported across various Western countries, although geographic and temporal variations in terms of incidence, clinical features and genetics are not fully elucidated. This study aimed to describe demographic, clinical feature and genotype–phenotype correlations of ALS cases over the last decade in the Emilia Romagna Region (ERR). From 2009 to 2019, our prospective population-based registry of ALS in the ERR of Northern Italy recorded 1613 patients receiving a diagnosis of ALS. The age- and sex-adjusted incidence rate was 3.13/100,000 population (M/F ratio: 1.21). The mean age at onset was 67.01 years; women, bulbar and respiratory phenotypes were associated with an older age, while C9orf72-mutated patients were generally younger. After peaking at 70–75 years, incidence rates, among women only, showed a bimodal distribution with a second slight increase after reaching 90 years of age. Familial cases c...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="f21adb1b513162e00226d0964027e2d3" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":89833714,"asset_id":84996588,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/89833714/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="84996588"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="84996588"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 84996588; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=84996588]").text(description); $(".js-view-count[data-work-id=84996588]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 84996588; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='84996588']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 84996588, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "f21adb1b513162e00226d0964027e2d3" } } $('.js-work-strip[data-work-id=84996588]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":84996588,"title":"Epidemiological, Clinical and Genetic Features of ALS in the Last Decade: A Prospective Population-Based Study in the Emilia Romagna Region of Italy","translated_title":"","metadata":{"abstract":"Increased incidence rates of amyotrophic lateral sclerosis (ALS) have been recently reported across various Western countries, although geographic and temporal variations in terms of incidence, clinical features and genetics are not fully elucidated. This study aimed to describe demographic, clinical feature and genotype–phenotype correlations of ALS cases over the last decade in the Emilia Romagna Region (ERR). From 2009 to 2019, our prospective population-based registry of ALS in the ERR of Northern Italy recorded 1613 patients receiving a diagnosis of ALS. The age- and sex-adjusted incidence rate was 3.13/100,000 population (M/F ratio: 1.21). The mean age at onset was 67.01 years; women, bulbar and respiratory phenotypes were associated with an older age, while C9orf72-mutated patients were generally younger. After peaking at 70–75 years, incidence rates, among women only, showed a bimodal distribution with a second slight increase after reaching 90 years of age. Familial cases c...","publisher":"MDPI AG","publication_date":{"day":null,"month":null,"year":2022,"errors":{}},"publication_name":"Biomedicines"},"translated_abstract":"Increased incidence rates of amyotrophic lateral sclerosis (ALS) have been recently reported across various Western countries, although geographic and temporal variations in terms of incidence, clinical features and genetics are not fully elucidated. This study aimed to describe demographic, clinical feature and genotype–phenotype correlations of ALS cases over the last decade in the Emilia Romagna Region (ERR). From 2009 to 2019, our prospective population-based registry of ALS in the ERR of Northern Italy recorded 1613 patients receiving a diagnosis of ALS. The age- and sex-adjusted incidence rate was 3.13/100,000 population (M/F ratio: 1.21). The mean age at onset was 67.01 years; women, bulbar and respiratory phenotypes were associated with an older age, while C9orf72-mutated patients were generally younger. After peaking at 70–75 years, incidence rates, among women only, showed a bimodal distribution with a second slight increase after reaching 90 years of age. 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="84996583"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/84996583/A_Rapid_and_Simple_UHPLC_MS_MS_Method_for_Quantification_of_Plasma_Globotriaosylsphingosine_lyso_Gb3_"><img alt="Research paper thumbnail of A Rapid and Simple UHPLC-MS/MS Method for Quantification of Plasma Globotriaosylsphingosine (lyso-Gb3)" class="work-thumbnail" src="https://attachments.academia-assets.com/89833711/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/84996583/A_Rapid_and_Simple_UHPLC_MS_MS_Method_for_Quantification_of_Plasma_Globotriaosylsphingosine_lyso_Gb3_">A Rapid and Simple UHPLC-MS/MS Method for Quantification of Plasma Globotriaosylsphingosine (lyso-Gb3)</a></div><div class="wp-workCard_item"><span>Molecules</span><span>, 2021</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A gene...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A gene (GLA) mutations, resulting in loss of activity of the lysosomal hydrolase, α-galactosidase A (α-Gal A). As a result, the main glycosphingolipid substrates, globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), accumulate in plasma, urine, and tissues. Here, we propose a simple, fast, and sensitive method for plasma quantification of lyso-Gb3, the most promising secondary screening target for FD. Assisted protein precipitation with methanol using Phree cartridges was performed as sample pre-treatment and plasma concentrations were measured using UHPLC-MS/MS operating in MRM positive electrospray ionization. Method validation provided excellent results for the whole calibration range (0.25–100 ng/mL). Intra-assay and inter-assay accuracy and precision (CV%) were calculated as &lt;10%. The method was successfully applied to 55 plasma samples obtained from 34 patients with FD...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="2c3e7c68a7156239ee508ed0c4c3ed0e" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":89833711,"asset_id":84996583,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/89833711/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="84996583"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="84996583"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 84996583; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=84996583]").text(description); $(".js-view-count[data-work-id=84996583]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 84996583; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='84996583']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 84996583, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "2c3e7c68a7156239ee508ed0c4c3ed0e" } } $('.js-work-strip[data-work-id=84996583]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":84996583,"title":"A Rapid and Simple UHPLC-MS/MS Method for Quantification of Plasma Globotriaosylsphingosine (lyso-Gb3)","translated_title":"","metadata":{"abstract":"Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A gene (GLA) mutations, resulting in loss of activity of the lysosomal hydrolase, α-galactosidase A (α-Gal A). As a result, the main glycosphingolipid substrates, globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), accumulate in plasma, urine, and tissues. Here, we propose a simple, fast, and sensitive method for plasma quantification of lyso-Gb3, the most promising secondary screening target for FD. Assisted protein precipitation with methanol using Phree cartridges was performed as sample pre-treatment and plasma concentrations were measured using UHPLC-MS/MS operating in MRM positive electrospray ionization. Method validation provided excellent results for the whole calibration range (0.25–100 ng/mL). Intra-assay and inter-assay accuracy and precision (CV%) were calculated as \u0026lt;10%. The method was successfully applied to 55 plasma samples obtained from 34 patients with FD...","publisher":"MDPI AG","publication_date":{"day":null,"month":null,"year":2021,"errors":{}},"publication_name":"Molecules"},"translated_abstract":"Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A gene (GLA) mutations, resulting in loss of activity of the lysosomal hydrolase, α-galactosidase A (α-Gal A). As a result, the main glycosphingolipid substrates, globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), accumulate in plasma, urine, and tissues. Here, we propose a simple, fast, and sensitive method for plasma quantification of lyso-Gb3, the most promising secondary screening target for FD. Assisted protein precipitation with methanol using Phree cartridges was performed as sample pre-treatment and plasma concentrations were measured using UHPLC-MS/MS operating in MRM positive electrospray ionization. Method validation provided excellent results for the whole calibration range (0.25–100 ng/mL). Intra-assay and inter-assay accuracy and precision (CV%) were calculated as \u0026lt;10%. 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="84996579"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/84996579/Author_s_response_to_reviews_Title_Functional_MRI_study_in_a_case_of_Charles_Bonnet_syndrome_related_to_LHON_Authors"><img alt="Research paper thumbnail of Author’s response to reviews Title: Functional MRI study in a case of Charles Bonnet syndrome related to LHON Authors" class="work-thumbnail" src="https://attachments.academia-assets.com/89833708/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/84996579/Author_s_response_to_reviews_Title_Functional_MRI_study_in_a_case_of_Charles_Bonnet_syndrome_related_to_LHON_Authors">Author’s response to reviews Title: Functional MRI study in a case of Charles Bonnet syndrome related to LHON Authors</a></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Title: Functional MRI study in a case of Charles Bonnet syndrome related to LHON Authors: Veria V...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Title: Functional MRI study in a case of Charles Bonnet syndrome related to LHON Authors: Veria Vacchiano (<a href="mailto:veriavacchiano@gmail.com" rel="nofollow">veriavacchiano@gmail.com</a>) Caterina Tonon (<a href="mailto:caterina.tonon@unibo.it" rel="nofollow">caterina.tonon@unibo.it</a>) Micaela Mitolo (<a href="mailto:micaela.mitolo@unibo.it" rel="nofollow">micaela.mitolo@unibo.it</a>) Stefania Evangelisti (<a href="mailto:stefani.evangelisti4@unibo.it" rel="nofollow">stefani.evangelisti4@unibo.it</a>) Michele Carbonelli (<a href="mailto:dmcarbonelli@gmail.com" rel="nofollow">dmcarbonelli@gmail.com</a>) Rocco Liguori (<a href="mailto:rocco.liguori@unibo.it" rel="nofollow">rocco.liguori@unibo.it</a>) Raffaele Lodi (<a href="mailto:raffaele.lodi@unibo.it" rel="nofollow">raffaele.lodi@unibo.it</a>) Valerio Carelli (<a href="mailto:valerio.carelli@unibo.it" rel="nofollow">valerio.carelli@unibo.it</a>) Chiara La Morgia (<a href="mailto:chiara.lamorgia@unibo.it" rel="nofollow">chiara.lamorgia@unibo.it</a>) Version: 1 Date: 02 Dec 2019 Author’s response to reviews: Dear Editor,</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="a1fe53f571c9ffd8aedf4f4709fbda4d" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":89833708,"asset_id":84996579,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/89833708/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="84996579"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="84996579"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 84996579; 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="84996576"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/84996576/CSF_Heavy_Neurofilament_May_Discriminate_and_Predict_Motor_Neuron_Diseases_with_Upper_Motor_Neuron_Involvement"><img alt="Research paper thumbnail of CSF Heavy Neurofilament May Discriminate and Predict Motor Neuron Diseases with Upper Motor Neuron Involvement" class="work-thumbnail" src="https://attachments.academia-assets.com/89833706/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/84996576/CSF_Heavy_Neurofilament_May_Discriminate_and_Predict_Motor_Neuron_Diseases_with_Upper_Motor_Neuron_Involvement">CSF Heavy Neurofilament May Discriminate and Predict Motor Neuron Diseases with Upper Motor Neuron Involvement</a></div><div class="wp-workCard_item"><span>Biomedicines</span><span>, 2021</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Objective: To assess whether phosphorylated neurofilament heavy chain (pNfH) can discriminate dif...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Objective: To assess whether phosphorylated neurofilament heavy chain (pNfH) can discriminate different upper motor neuron (UMN) syndromes, namely, ALS, UMN-predominant ALS, primary lateral sclerosis (PLS) and hereditary spastic paraparesis (hSP) and to test the prognostic value of pNfH in UMN diseases. Methods: CSF and serum pNfH were measured in 143 patients presenting with signs of UMN and later diagnosed with classic/bulbar ALS, UMNp-ALS, hSP, and PLS. Between-group comparisons were drawn by ANOVA and receiver operating characteristic (ROC) analysis was performed. The prognostic value of pNfH was tested by the Cox regression model. Results: ALS and UMNp-ALS patients had higher CSF pNfH compared to PLS and hSP (p &lt; 0.001). ROC analysis showed that CSF pNfH could differentiate ALS, UMNp-ALS included, from PLS and hSP (AUC = 0.75 and 0.95, respectively), while serum did not perform as well. In multivariable survival analysis among the totality of UMN patients and classic/bulbar ...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="e78ae600e8a73fe33d4c62a0230a87ea" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":89833706,"asset_id":84996576,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/89833706/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="84996576"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="84996576"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 84996576; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=84996576]").text(description); $(".js-view-count[data-work-id=84996576]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 84996576; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='84996576']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 84996576, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "e78ae600e8a73fe33d4c62a0230a87ea" } } $('.js-work-strip[data-work-id=84996576]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":84996576,"title":"CSF Heavy Neurofilament May Discriminate and Predict Motor Neuron Diseases with Upper Motor Neuron Involvement","translated_title":"","metadata":{"abstract":"Objective: To assess whether phosphorylated neurofilament heavy chain (pNfH) can discriminate different upper motor neuron (UMN) syndromes, namely, ALS, UMN-predominant ALS, primary lateral sclerosis (PLS) and hereditary spastic paraparesis (hSP) and to test the prognostic value of pNfH in UMN diseases. Methods: CSF and serum pNfH were measured in 143 patients presenting with signs of UMN and later diagnosed with classic/bulbar ALS, UMNp-ALS, hSP, and PLS. Between-group comparisons were drawn by ANOVA and receiver operating characteristic (ROC) analysis was performed. The prognostic value of pNfH was tested by the Cox regression model. Results: ALS and UMNp-ALS patients had higher CSF pNfH compared to PLS and hSP (p \u0026lt; 0.001). ROC analysis showed that CSF pNfH could differentiate ALS, UMNp-ALS included, from PLS and hSP (AUC = 0.75 and 0.95, respectively), while serum did not perform as well. In multivariable survival analysis among the totality of UMN patients and classic/bulbar ...","publisher":"MDPI AG","publication_date":{"day":null,"month":null,"year":2021,"errors":{}},"publication_name":"Biomedicines"},"translated_abstract":"Objective: To assess whether phosphorylated neurofilament heavy chain (pNfH) can discriminate different upper motor neuron (UMN) syndromes, namely, ALS, UMN-predominant ALS, primary lateral sclerosis (PLS) and hereditary spastic paraparesis (hSP) and to test the prognostic value of pNfH in UMN diseases. Methods: CSF and serum pNfH were measured in 143 patients presenting with signs of UMN and later diagnosed with classic/bulbar ALS, UMNp-ALS, hSP, and PLS. Between-group comparisons were drawn by ANOVA and receiver operating characteristic (ROC) analysis was performed. The prognostic value of pNfH was tested by the Cox regression model. Results: ALS and UMNp-ALS patients had higher CSF pNfH compared to PLS and hSP (p \u0026lt; 0.001). ROC analysis showed that CSF pNfH could differentiate ALS, UMNp-ALS included, from PLS and hSP (AUC = 0.75 and 0.95, respectively), while serum did not perform as well. In multivariable survival analysis among the totality of UMN patients and classic/bulbar ...","internal_url":"https://www.academia.edu/84996576/CSF_Heavy_Neurofilament_May_Discriminate_and_Predict_Motor_Neuron_Diseases_with_Upper_Motor_Neuron_Involvement","translated_internal_url":"","created_at":"2022-08-17T11:02:32.066-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37515190,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":89833706,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/89833706/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/89833706/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"CSF_Heavy_Neurofilament_May_Discriminate.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/89833706/pdf-libre.pdf?1660760446=\u0026response-content-disposition=attachment%3B+filename%3DCSF_Heavy_Neurofilament_May_Discriminate.pdf\u0026Expires=1732820023\u0026Signature=CJIdzUIu-11G-H13qJVApGR1VCJDJP6yzvGzxbGS81J8JgrS0OKv7RLuTMZT~2fnmI-DOIfjyp2jhPmNMNxTs~TPISnMTcKzXT4fAY2IoGddk9WMZRhmBuIs9mAspUrab~eEEiT-wtkzciYJh9wsqqWC726p~v5LpsWmqfRa6P~I9CYniSZwqO8xM8PacRvA-3N18D7hzrf2n-wPTqC~G4EQe~eQSR23J1L9fiZAbzEVlpA4L7UVwxgkCoapmbdc8~ZaATPuoDGdi-fuF0oGEsL7rOnYwIFrehJTAig0b-vRN5ql~mno3p4jWsnHCKzOVQea3xiyWc-sYjdjlZY0TQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"CSF_Heavy_Neurofilament_May_Discriminate_and_Predict_Motor_Neuron_Diseases_with_Upper_Motor_Neuron_Involvement","translated_slug":"","page_count":13,"language":"en","content_type":"Work","owner":{"id":37515190,"first_name":"Rocco","middle_initials":null,"last_name":"Liguori","page_name":"RoccoLiguori","domain_name":"independent","created_at":"2015-11-02T22:11:11.958-08:00","display_name":"Rocco Liguori","url":"https://independent.academia.edu/RoccoLiguori"},"attachments":[{"id":89833706,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/89833706/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/89833706/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"CSF_Heavy_Neurofilament_May_Discriminate.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/89833706/pdf-libre.pdf?1660760446=\u0026response-content-disposition=attachment%3B+filename%3DCSF_Heavy_Neurofilament_May_Discriminate.pdf\u0026Expires=1732820023\u0026Signature=CJIdzUIu-11G-H13qJVApGR1VCJDJP6yzvGzxbGS81J8JgrS0OKv7RLuTMZT~2fnmI-DOIfjyp2jhPmNMNxTs~TPISnMTcKzXT4fAY2IoGddk9WMZRhmBuIs9mAspUrab~eEEiT-wtkzciYJh9wsqqWC726p~v5LpsWmqfRa6P~I9CYniSZwqO8xM8PacRvA-3N18D7hzrf2n-wPTqC~G4EQe~eQSR23J1L9fiZAbzEVlpA4L7UVwxgkCoapmbdc8~ZaATPuoDGdi-fuF0oGEsL7rOnYwIFrehJTAig0b-vRN5ql~mno3p4jWsnHCKzOVQea3xiyWc-sYjdjlZY0TQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":42973,"name":"Amyotrophic Lateral Sclerosis","url":"https://www.academia.edu/Documents/in/Amyotrophic_Lateral_Sclerosis"},{"id":65390,"name":"Internal Medicine","url":"https://www.academia.edu/Documents/in/Internal_Medicine"},{"id":1309705,"name":"Receiver Operating Characteristic","url":"https://www.academia.edu/Documents/in/Receiver_Operating_Characteristic"},{"id":3687363,"name":"biomedicines","url":"https://www.academia.edu/Documents/in/biomedicines"}],"urls":[{"id":23050652,"url":"https://www.mdpi.com/2227-9059/9/11/1623/pdf"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="84996572"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/84996572/Presynaptic_Paraneoplastic_Disorders_of_the_Neuromuscular_Junction_An_Update"><img alt="Research paper thumbnail of Presynaptic Paraneoplastic Disorders of the Neuromuscular Junction: An Update" class="work-thumbnail" src="https://attachments.academia-assets.com/89833703/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/84996572/Presynaptic_Paraneoplastic_Disorders_of_the_Neuromuscular_Junction_An_Update">Presynaptic Paraneoplastic Disorders of the Neuromuscular Junction: An Update</a></div><div class="wp-workCard_item"><span>Brain Sciences</span><span>, 2021</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">The neuromuscular junction (NMJ) is the target of a variety of immune-mediated disorders, usually...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">The neuromuscular junction (NMJ) is the target of a variety of immune-mediated disorders, usually classified as presynaptic and postsynaptic, according to the site of the antigenic target and consequently of the neuromuscular transmission alteration. Although less common than the classical autoimmune postsynaptic myasthenia gravis, presynaptic disorders are important to recognize due to the frequent association with cancer. Lambert Eaton myasthenic syndrome is due to a presynaptic failure to release acetylcholine, caused by antibodies to the presynaptic voltage-gated calcium channels. Acquired neuromyotonia is a condition characterized by nerve hyperexcitability often due to the presence of antibodies against proteins associated with voltage-gated potassium channels. This review will focus on the recent developments in the autoimmune presynaptic disorders of the NMJ.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="519fad8b1ff8bdb14abbb4dfef51bae2" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":89833703,"asset_id":84996572,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/89833703/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="84996572"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="84996572"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 84996572; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=84996572]").text(description); $(".js-view-count[data-work-id=84996572]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 84996572; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='84996572']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 84996572, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "519fad8b1ff8bdb14abbb4dfef51bae2" } } $('.js-work-strip[data-work-id=84996572]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":84996572,"title":"Presynaptic Paraneoplastic Disorders of the Neuromuscular Junction: An Update","translated_title":"","metadata":{"abstract":"The neuromuscular junction (NMJ) is the target of a variety of immune-mediated disorders, usually classified as presynaptic and postsynaptic, according to the site of the antigenic target and consequently of the neuromuscular transmission alteration. Although less common than the classical autoimmune postsynaptic myasthenia gravis, presynaptic disorders are important to recognize due to the frequent association with cancer. Lambert Eaton myasthenic syndrome is due to a presynaptic failure to release acetylcholine, caused by antibodies to the presynaptic voltage-gated calcium channels. Acquired neuromyotonia is a condition characterized by nerve hyperexcitability often due to the presence of antibodies against proteins associated with voltage-gated potassium channels. This review will focus on the recent developments in the autoimmune presynaptic disorders of the NMJ.","publisher":"MDPI AG","publication_date":{"day":null,"month":null,"year":2021,"errors":{}},"publication_name":"Brain Sciences"},"translated_abstract":"The neuromuscular junction (NMJ) is the target of a variety of immune-mediated disorders, usually classified as presynaptic and postsynaptic, according to the site of the antigenic target and consequently of the neuromuscular transmission alteration. Although less common than the classical autoimmune postsynaptic myasthenia gravis, presynaptic disorders are important to recognize due to the frequent association with cancer. Lambert Eaton myasthenic syndrome is due to a presynaptic failure to release acetylcholine, caused by antibodies to the presynaptic voltage-gated calcium channels. Acquired neuromyotonia is a condition characterized by nerve hyperexcitability often due to the presence of antibodies against proteins associated with voltage-gated potassium channels. This review will focus on the recent developments in the autoimmune presynaptic disorders of the NMJ.","internal_url":"https://www.academia.edu/84996572/Presynaptic_Paraneoplastic_Disorders_of_the_Neuromuscular_Junction_An_Update","translated_internal_url":"","created_at":"2022-08-17T11:02:29.855-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37515190,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":89833703,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/89833703/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/89833703/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Presynaptic_Paraneoplastic_Disorders_of.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/89833703/pdf-libre.pdf?1660760446=\u0026response-content-disposition=attachment%3B+filename%3DPresynaptic_Paraneoplastic_Disorders_of.pdf\u0026Expires=1732820023\u0026Signature=XsyvNXV9S6DwhOuCeL~-AQ2q5L578b0CKWp~3zAPsn2v676HnZB0~YAhKrAF6hmOY3LM~W~fYxH844D1b1vtLgpZmZ3mYHD9i5zVWPqlve7Lp4euR~okY3wUwQgc2WYN47d8Ilfr6Kw3KiKi5QQCQi1iTq~jVZEMiEr72CpLeqDP7s~Jks-TtWkQMdRq0F4WpPsnkyMwRiI~Ityh0EOmgtPR8mWWJoICOxpJ61C9LNzrFG-a2NthLXEPcog9jP8JzLmlV7IZR-WPtNL4-QEsNx2vOMafrl4V9rKWKNmGyhDK8rWDxSeOcS38QkDpz44YeY9n-KZp4Oub0SQKIsCZlg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Presynaptic_Paraneoplastic_Disorders_of_the_Neuromuscular_Junction_An_Update","translated_slug":"","page_count":17,"language":"en","content_type":"Work","owner":{"id":37515190,"first_name":"Rocco","middle_initials":null,"last_name":"Liguori","page_name":"RoccoLiguori","domain_name":"independent","created_at":"2015-11-02T22:11:11.958-08:00","display_name":"Rocco Liguori","url":"https://independent.academia.edu/RoccoLiguori"},"attachments":[{"id":89833703,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/89833703/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/89833703/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Presynaptic_Paraneoplastic_Disorders_of.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/89833703/pdf-libre.pdf?1660760446=\u0026response-content-disposition=attachment%3B+filename%3DPresynaptic_Paraneoplastic_Disorders_of.pdf\u0026Expires=1732820023\u0026Signature=XsyvNXV9S6DwhOuCeL~-AQ2q5L578b0CKWp~3zAPsn2v676HnZB0~YAhKrAF6hmOY3LM~W~fYxH844D1b1vtLgpZmZ3mYHD9i5zVWPqlve7Lp4euR~okY3wUwQgc2WYN47d8Ilfr6Kw3KiKi5QQCQi1iTq~jVZEMiEr72CpLeqDP7s~Jks-TtWkQMdRq0F4WpPsnkyMwRiI~Ityh0EOmgtPR8mWWJoICOxpJ61C9LNzrFG-a2NthLXEPcog9jP8JzLmlV7IZR-WPtNL4-QEsNx2vOMafrl4V9rKWKNmGyhDK8rWDxSeOcS38QkDpz44YeY9n-KZp4Oub0SQKIsCZlg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"},{"id":89833705,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/89833705/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/89833705/download_file","bulk_download_file_name":"Presynaptic_Paraneoplastic_Disorders_of.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/89833705/pdf-libre.pdf?1660760451=\u0026response-content-disposition=attachment%3B+filename%3DPresynaptic_Paraneoplastic_Disorders_of.pdf\u0026Expires=1732820023\u0026Signature=AGleDNE2ZX~987OGEXAfZljICzeu-ZB0C4wf0wTBMvckmZil~TbZN9upD-ntqca0tt-94CaGvtLZ1nCrzRch3jDmfI-5p8DWJ8TeQKIITHt0gvjISxJq6AUCv9t5wYbMXdC3KmvYOukdme5vAPQdTU~jwCk51HMe1DifB4RQx1St1bFloRlh2rIz1InzwEtLo23Wy4tQLBvjYAyTMmqdJ3pOBYfd7k-wa4iQOP6Hyq8xa1hAge80dgCVzgtRHFgg64FuE13emEd1HHgl8JrrwRPQaYPRi79KjD3CfTst8FuNrxXpIflNB9l8lFYrLCPoUw-ZY1jxLOXtWqOPg4j~4A__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":995334,"name":"Neuromuscular Junction","url":"https://www.academia.edu/Documents/in/Neuromuscular_Junction"},{"id":1005921,"name":"Brain Sciences","url":"https://www.academia.edu/Documents/in/Brain_Sciences"}],"urls":[{"id":23050649,"url":"https://www.mdpi.com/2076-3425/11/8/1035/pdf"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="84996567"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/84996567/In_Vivo_Diagnosis_of_Synucleinopathies"><img alt="Research paper thumbnail of In Vivo Diagnosis of Synucleinopathies" class="work-thumbnail" src="https://attachments.academia-assets.com/89833754/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/84996567/In_Vivo_Diagnosis_of_Synucleinopathies">In Vivo Diagnosis of Synucleinopathies</a></div><div class="wp-workCard_item"><span>Neurology</span><span>, 2021</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">ObjectiveTo determine whether (1) immunofluorescence is a reproducible technique in detecting mis...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">ObjectiveTo determine whether (1) immunofluorescence is a reproducible technique in detecting misfolded α-synuclein in skin nerves and subsequently whether (2) immunofluorescence and real-time quaking-induced conversion (RT-QuIC) (both in skin and CSF) show a comparable in vivo diagnostic accuracy in distinguishing synucleinopathies from non-synucleinopathies in a large cohort of patients.MethodsWe prospectively recruited 90 patients fulfilling clinical and instrumental diagnostic criteria for all synucleinopathies variants and non-synucleinopathies (mainly including Alzheimer disease, tauopathies, and vascular parkinsonism or dementia). Twenty-four patients with mainly peripheral neuropathies were used as controls. Patients underwent skin biopsy for immunofluorescence and RT-QuIC; CSF was examined in patients who underwent lumbar puncture for diagnostic purposes. Immunofluorescence and RT-QuIC analysis were made blinded to the clinical diagnosis.ResultsImmunofluorescence showed rep...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="60ec847599a136804ebe6fa4d6427a70" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":89833754,"asset_id":84996567,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/89833754/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="84996567"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="84996567"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 84996567; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=84996567]").text(description); $(".js-view-count[data-work-id=84996567]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 84996567; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='84996567']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 84996567, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "60ec847599a136804ebe6fa4d6427a70" } } $('.js-work-strip[data-work-id=84996567]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":84996567,"title":"In Vivo Diagnosis of Synucleinopathies","translated_title":"","metadata":{"abstract":"ObjectiveTo determine whether (1) immunofluorescence is a reproducible technique in detecting misfolded α-synuclein in skin nerves and subsequently whether (2) immunofluorescence and real-time quaking-induced conversion (RT-QuIC) (both in skin and CSF) show a comparable in vivo diagnostic accuracy in distinguishing synucleinopathies from non-synucleinopathies in a large cohort of patients.MethodsWe prospectively recruited 90 patients fulfilling clinical and instrumental diagnostic criteria for all synucleinopathies variants and non-synucleinopathies (mainly including Alzheimer disease, tauopathies, and vascular parkinsonism or dementia). Twenty-four patients with mainly peripheral neuropathies were used as controls. Patients underwent skin biopsy for immunofluorescence and RT-QuIC; CSF was examined in patients who underwent lumbar puncture for diagnostic purposes. Immunofluorescence and RT-QuIC analysis were made blinded to the clinical diagnosis.ResultsImmunofluorescence showed rep...","publisher":"Ovid Technologies (Wolters Kluwer Health)","publication_date":{"day":null,"month":null,"year":2021,"errors":{}},"publication_name":"Neurology"},"translated_abstract":"ObjectiveTo determine whether (1) immunofluorescence is a reproducible technique in detecting misfolded α-synuclein in skin nerves and subsequently whether (2) immunofluorescence and real-time quaking-induced conversion (RT-QuIC) (both in skin and CSF) show a comparable in vivo diagnostic accuracy in distinguishing synucleinopathies from non-synucleinopathies in a large cohort of patients.MethodsWe prospectively recruited 90 patients fulfilling clinical and instrumental diagnostic criteria for all synucleinopathies variants and non-synucleinopathies (mainly including Alzheimer disease, tauopathies, and vascular parkinsonism or dementia). Twenty-four patients with mainly peripheral neuropathies were used as controls. Patients underwent skin biopsy for immunofluorescence and RT-QuIC; CSF was examined in patients who underwent lumbar puncture for diagnostic purposes. Immunofluorescence and RT-QuIC analysis were made blinded to the clinical diagnosis.ResultsImmunofluorescence showed rep...","internal_url":"https://www.academia.edu/84996567/In_Vivo_Diagnosis_of_Synucleinopathies","translated_internal_url":"","created_at":"2022-08-17T11:02:27.209-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37515190,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":89833754,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/89833754/thumbnails/1.jpg","file_name":"e2513.full.pdf","download_url":"https://www.academia.edu/attachments/89833754/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"In_Vivo_Diagnosis_of_Synucleinopathies.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/89833754/e2513.full-libre.pdf?1660760440=\u0026response-content-disposition=attachment%3B+filename%3DIn_Vivo_Diagnosis_of_Synucleinopathies.pdf\u0026Expires=1732820023\u0026Signature=NvsyvwJ03sncQNSzejOi~FZzz~7CITs7IVmr94R6~ZNetXxKYNk5zDL-ISuRn4s7QcYGi7k7E71m0Uh7TkIj9at4C6L3Zx3zAa5bBaPcIG~8xR-ammJzT2rSsZLsM33ZN--49sPa8Pt8Sd2zvUY8GbUXH4mkQORjgvQjjXLkZ9~s06-07NllUKXvzEVJxniKwc-ezfJVzC19d~zYQvi3B7cPPJMRxWlxOHGFJTcBAA7SNfTkKckBjazkwndehIythpSWNa5-lJmVeWTBE80IxTL4kAHBAy~6j4alnXoK1tquSprfdD8u3oMbgZxYT1OmdKSaG9AGF0sbi6OaUvf6CQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"In_Vivo_Diagnosis_of_Synucleinopathies","translated_slug":"","page_count":13,"language":"en","content_type":"Work","owner":{"id":37515190,"first_name":"Rocco","middle_initials":null,"last_name":"Liguori","page_name":"RoccoLiguori","domain_name":"independent","created_at":"2015-11-02T22:11:11.958-08:00","display_name":"Rocco Liguori","url":"https://independent.academia.edu/RoccoLiguori"},"attachments":[{"id":89833754,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/89833754/thumbnails/1.jpg","file_name":"e2513.full.pdf","download_url":"https://www.academia.edu/attachments/89833754/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"In_Vivo_Diagnosis_of_Synucleinopathies.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/89833754/e2513.full-libre.pdf?1660760440=\u0026response-content-disposition=attachment%3B+filename%3DIn_Vivo_Diagnosis_of_Synucleinopathies.pdf\u0026Expires=1732820023\u0026Signature=NvsyvwJ03sncQNSzejOi~FZzz~7CITs7IVmr94R6~ZNetXxKYNk5zDL-ISuRn4s7QcYGi7k7E71m0Uh7TkIj9at4C6L3Zx3zAa5bBaPcIG~8xR-ammJzT2rSsZLsM33ZN--49sPa8Pt8Sd2zvUY8GbUXH4mkQORjgvQjjXLkZ9~s06-07NllUKXvzEVJxniKwc-ezfJVzC19d~zYQvi3B7cPPJMRxWlxOHGFJTcBAA7SNfTkKckBjazkwndehIythpSWNa5-lJmVeWTBE80IxTL4kAHBAy~6j4alnXoK1tquSprfdD8u3oMbgZxYT1OmdKSaG9AGF0sbi6OaUvf6CQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":237,"name":"Cognitive Science","url":"https://www.academia.edu/Documents/in/Cognitive_Science"},{"id":623,"name":"Neurology","url":"https://www.academia.edu/Documents/in/Neurology"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":1239755,"name":"Neurosciences","url":"https://www.academia.edu/Documents/in/Neurosciences"}],"urls":[{"id":23050644,"url":"https://syndication.highwire.org/content/doi/10.1212/WNL.0000000000011935"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> </div><div class="profile--tab_content_container js-tab-pane tab-pane" data-section-id="3911145" id="papers"><div class="js-work-strip profile--work_container" data-work-id="103318337"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/103318337/A_comparative_blind_study_between_skin_biopsy_and_seed_amplification_assay_to_disclose_pathological_%CE%B1_synuclein_in_RBD"><img alt="Research paper thumbnail of A comparative blind study between skin biopsy and seed amplification assay to disclose pathological α-synuclein in RBD" class="work-thumbnail" src="https://attachments.academia-assets.com/103357575/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/103318337/A_comparative_blind_study_between_skin_biopsy_and_seed_amplification_assay_to_disclose_pathological_%CE%B1_synuclein_in_RBD">A comparative blind study between skin biopsy and seed amplification assay to disclose pathological α-synuclein in RBD</a></div><div class="wp-workCard_item"><span>npj Parkinson's Disease</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">To compare the diagnostic accuracy of the immunofluorescence (IF) technique and aSyn-seed amplifi...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">To compare the diagnostic accuracy of the immunofluorescence (IF) technique and aSyn-seed amplification assay (aSyn-SAA) of skin and cerebrospinal fluid (CSF) in disclosing pathological α-syn in idiopathic idiopathic REM sleep behavior disorder (iRBD) as early phase of a synucleinopathy. We prospectively recruited 41 patients with iRBD and 40 matched clinical controls including RBD associated with type 1 Narcolepsy (RBD-NT1, 21 patients), iatrogenic causes (2 pt) or OSAS (6 pt) and 11 patients with peripheral neuropathies. IF from samples taken by skin biopsy and aSyn-SAA from skin and CSF samples were analysed blinded to the clinical diagnosis. IF showed a good diagnostic accuracy (89%) that was lower in the case of skin and CSF-based aSyn-SAA (70% and 69%, respectively) because of a lower sensitivity and specificity. However, IF showed a significant agreement with CSF aSyn-SAA. In conclusion, our data may favor the use of skin biopsy and aSyn-SAA as diagnostic tools for a synuclei...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="498a05d55172f478dff8f51d2aafa3b8" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":103357575,"asset_id":103318337,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/103357575/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="103318337"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="103318337"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 103318337; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=103318337]").text(description); $(".js-view-count[data-work-id=103318337]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 103318337; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='103318337']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 103318337, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "498a05d55172f478dff8f51d2aafa3b8" } } $('.js-work-strip[data-work-id=103318337]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":103318337,"title":"A comparative blind study between skin biopsy and seed amplification assay to disclose pathological α-synuclein in RBD","translated_title":"","metadata":{"abstract":"To compare the diagnostic accuracy of the immunofluorescence (IF) technique and aSyn-seed amplification assay (aSyn-SAA) of skin and cerebrospinal fluid (CSF) in disclosing pathological α-syn in idiopathic idiopathic REM sleep behavior disorder (iRBD) as early phase of a synucleinopathy. We prospectively recruited 41 patients with iRBD and 40 matched clinical controls including RBD associated with type 1 Narcolepsy (RBD-NT1, 21 patients), iatrogenic causes (2 pt) or OSAS (6 pt) and 11 patients with peripheral neuropathies. IF from samples taken by skin biopsy and aSyn-SAA from skin and CSF samples were analysed blinded to the clinical diagnosis. IF showed a good diagnostic accuracy (89%) that was lower in the case of skin and CSF-based aSyn-SAA (70% and 69%, respectively) because of a lower sensitivity and specificity. However, IF showed a significant agreement with CSF aSyn-SAA. In conclusion, our data may favor the use of skin biopsy and aSyn-SAA as diagnostic tools for a synuclei...","publisher":"Springer Science and Business Media LLC","publication_name":"npj Parkinson's Disease"},"translated_abstract":"To compare the diagnostic accuracy of the immunofluorescence (IF) technique and aSyn-seed amplification assay (aSyn-SAA) of skin and cerebrospinal fluid (CSF) in disclosing pathological α-syn in idiopathic idiopathic REM sleep behavior disorder (iRBD) as early phase of a synucleinopathy. We prospectively recruited 41 patients with iRBD and 40 matched clinical controls including RBD associated with type 1 Narcolepsy (RBD-NT1, 21 patients), iatrogenic causes (2 pt) or OSAS (6 pt) and 11 patients with peripheral neuropathies. IF from samples taken by skin biopsy and aSyn-SAA from skin and CSF samples were analysed blinded to the clinical diagnosis. IF showed a good diagnostic accuracy (89%) that was lower in the case of skin and CSF-based aSyn-SAA (70% and 69%, respectively) because of a lower sensitivity and specificity. However, IF showed a significant agreement with CSF aSyn-SAA. In conclusion, our data may favor the use of skin biopsy and aSyn-SAA as diagnostic tools for a synuclei...","internal_url":"https://www.academia.edu/103318337/A_comparative_blind_study_between_skin_biopsy_and_seed_amplification_assay_to_disclose_pathological_%CE%B1_synuclein_in_RBD","translated_internal_url":"","created_at":"2023-06-13T23:08:25.070-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37515190,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":103357575,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/103357575/thumbnails/1.jpg","file_name":"s41531-023-00473-5.pdf","download_url":"https://www.academia.edu/attachments/103357575/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"A_comparative_blind_study_between_skin_b.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/103357575/s41531-023-00473-5-libre.pdf?1686723344=\u0026response-content-disposition=attachment%3B+filename%3DA_comparative_blind_study_between_skin_b.pdf\u0026Expires=1732820023\u0026Signature=CzBNpV-t5xu17XhwIqFQJ63oC5T3WJdDu9ESyjLqOAwbKuPAMY-lFF1UyJR8O479Ewq3He2t3yn~X0hhP0NkNGoAPIR6aP17di2pG7zu6fYq-wxhm1QcgrHLV53-tAnKjLisYETkgSaodhzpwNmOvvJ-vzaYZJm13f-2NJJb8lPF9M0SyL6pfDn9jZuNvzkFuW1P-Iyfz39xEoXEh8VpDB~IfKt1wWTusSV5gdhcQz03DFdeYPYqQjhOl1RxNawlHUnzXKxwlZ-oPdwVByJFcGwpxao1wgoRoeo9oDuxlPm-y4195D9VLuZD3vC1npPZOPcbJ4HHisfjbs2ZwoFp1Q__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"A_comparative_blind_study_between_skin_biopsy_and_seed_amplification_assay_to_disclose_pathological_α_synuclein_in_RBD","translated_slug":"","page_count":6,"language":"en","content_type":"Work","owner":{"id":37515190,"first_name":"Rocco","middle_initials":null,"last_name":"Liguori","page_name":"RoccoLiguori","domain_name":"independent","created_at":"2015-11-02T22:11:11.958-08:00","display_name":"Rocco Liguori","url":"https://independent.academia.edu/RoccoLiguori"},"attachments":[{"id":103357575,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/103357575/thumbnails/1.jpg","file_name":"s41531-023-00473-5.pdf","download_url":"https://www.academia.edu/attachments/103357575/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"A_comparative_blind_study_between_skin_b.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/103357575/s41531-023-00473-5-libre.pdf?1686723344=\u0026response-content-disposition=attachment%3B+filename%3DA_comparative_blind_study_between_skin_b.pdf\u0026Expires=1732820023\u0026Signature=CzBNpV-t5xu17XhwIqFQJ63oC5T3WJdDu9ESyjLqOAwbKuPAMY-lFF1UyJR8O479Ewq3He2t3yn~X0hhP0NkNGoAPIR6aP17di2pG7zu6fYq-wxhm1QcgrHLV53-tAnKjLisYETkgSaodhzpwNmOvvJ-vzaYZJm13f-2NJJb8lPF9M0SyL6pfDn9jZuNvzkFuW1P-Iyfz39xEoXEh8VpDB~IfKt1wWTusSV5gdhcQz03DFdeYPYqQjhOl1RxNawlHUnzXKxwlZ-oPdwVByJFcGwpxao1wgoRoeo9oDuxlPm-y4195D9VLuZD3vC1npPZOPcbJ4HHisfjbs2ZwoFp1Q__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":165,"name":"Pathology","url":"https://www.academia.edu/Documents/in/Pathology"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":37826,"name":"Biopsy","url":"https://www.academia.edu/Documents/in/Biopsy"},{"id":60971,"name":"Cerebrospinal Fluid","url":"https://www.academia.edu/Documents/in/Cerebrospinal_Fluid"},{"id":1729106,"name":"Pathological","url":"https://www.academia.edu/Documents/in/Pathological"},{"id":2288616,"name":"Skin Biopsy","url":"https://www.academia.edu/Documents/in/Skin_Biopsy"}],"urls":[{"id":32246359,"url":"https://www.nature.com/articles/s41531-023-00473-5.pdf"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="97130371"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/97130371/Frequency_of_Parkinson_s_Disease_Genes_and_Role_of_PARK2_in_Amyotrophic_Lateral_Sclerosis_An_NGS_Study"><img alt="Research paper thumbnail of Frequency of Parkinson’s Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study" class="work-thumbnail" src="https://attachments.academia-assets.com/98837018/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/97130371/Frequency_of_Parkinson_s_Disease_Genes_and_Role_of_PARK2_in_Amyotrophic_Lateral_Sclerosis_An_NGS_Study">Frequency of Parkinson’s Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study</a></div><div class="wp-workCard_item"><span>Genes</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Amyotrophic lateral sclerosis (ALS) and Alzheimer’s disease (AD) patients show a higher prevalenc...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Amyotrophic lateral sclerosis (ALS) and Alzheimer’s disease (AD) patients show a higher prevalence of Lewy body disease than the general population. Additionally, parkinsonian features were found in about 30% of ALS patients. We aimed to explore the frequency of Parkinson’s disease (PD)-causative genes in ALS patients, compared to AD and healthy controls (HCs). We used next-generation sequencing multigene panels by analyzing SNCA, LRRK2, PINK1, PARK2, PARK7, SYNJ1, CHCHD2, PLA2G6, GCH1, ATP13A2, DNAJC6 and FBXO genes. GBA gene, a risk factor for PD, was also analyzed. In total, 130 ALS and 100 AD patients were investigated. PD-related genes were found to be altered in 26.2% of ALS, 20% of AD patients and 19.2% of HCs. Autosomal recessive genes were significantly more involved in ALS as compared to AD and HCs (p = 0.021). PARK2 variants were more frequent in ALS than in AD and HCs, although not significantly. However, the p.Arg402Cys variant was increased in ALS than in HCs (p = 0.02...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="25283dae9104dcb94cee5b742d204d9e" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":98837018,"asset_id":97130371,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/98837018/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="97130371"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="97130371"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 97130371; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=97130371]").text(description); $(".js-view-count[data-work-id=97130371]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 97130371; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='97130371']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 97130371, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "25283dae9104dcb94cee5b742d204d9e" } } $('.js-work-strip[data-work-id=97130371]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":97130371,"title":"Frequency of Parkinson’s Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study","translated_title":"","metadata":{"abstract":"Amyotrophic lateral sclerosis (ALS) and Alzheimer’s disease (AD) patients show a higher prevalence of Lewy body disease than the general population. Additionally, parkinsonian features were found in about 30% of ALS patients. We aimed to explore the frequency of Parkinson’s disease (PD)-causative genes in ALS patients, compared to AD and healthy controls (HCs). We used next-generation sequencing multigene panels by analyzing SNCA, LRRK2, PINK1, PARK2, PARK7, SYNJ1, CHCHD2, PLA2G6, GCH1, ATP13A2, DNAJC6 and FBXO genes. GBA gene, a risk factor for PD, was also analyzed. In total, 130 ALS and 100 AD patients were investigated. PD-related genes were found to be altered in 26.2% of ALS, 20% of AD patients and 19.2% of HCs. Autosomal recessive genes were significantly more involved in ALS as compared to AD and HCs (p = 0.021). PARK2 variants were more frequent in ALS than in AD and HCs, although not significantly. However, the p.Arg402Cys variant was increased in ALS than in HCs (p = 0.02...","publisher":"MDPI AG","publication_name":"Genes"},"translated_abstract":"Amyotrophic lateral sclerosis (ALS) and Alzheimer’s disease (AD) patients show a higher prevalence of Lewy body disease than the general population. Additionally, parkinsonian features were found in about 30% of ALS patients. We aimed to explore the frequency of Parkinson’s disease (PD)-causative genes in ALS patients, compared to AD and healthy controls (HCs). We used next-generation sequencing multigene panels by analyzing SNCA, LRRK2, PINK1, PARK2, PARK7, SYNJ1, CHCHD2, PLA2G6, GCH1, ATP13A2, DNAJC6 and FBXO genes. GBA gene, a risk factor for PD, was also analyzed. In total, 130 ALS and 100 AD patients were investigated. PD-related genes were found to be altered in 26.2% of ALS, 20% of AD patients and 19.2% of HCs. Autosomal recessive genes were significantly more involved in ALS as compared to AD and HCs (p = 0.021). PARK2 variants were more frequent in ALS than in AD and HCs, although not significantly. However, the p.Arg402Cys variant was increased in ALS than in HCs (p = 0.02...","internal_url":"https://www.academia.edu/97130371/Frequency_of_Parkinson_s_Disease_Genes_and_Role_of_PARK2_in_Amyotrophic_Lateral_Sclerosis_An_NGS_Study","translated_internal_url":"","created_at":"2023-02-18T14:31:20.558-08:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37515190,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":98837018,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/98837018/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/98837018/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Frequency_of_Parkinson_s_Disease_Genes_a.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/98837018/pdf-libre.pdf?1676767123=\u0026response-content-disposition=attachment%3B+filename%3DFrequency_of_Parkinson_s_Disease_Genes_a.pdf\u0026Expires=1732820023\u0026Signature=OJEl9GrUc2f7ba5HvHo5QHgyH6~FzpOkfZg1JJA5VL1TB6o7PoCv9w7~s87t27W7o2xK26P1n9-0craJyG2vXDN80WyMkihi4H0l1NBsw6ANJKp3iNn6WVfAPFjm08~3WdiU-lRJi1xvXe9ddjjZfR2fL0gWIQf9HeX6rMyYpxNjIrpffZwIIIqgbHcLEzOmLDBAhPZCuyFI6cDeQe-5KBabwS1TNELmgEy41R8hn~zdi2Mc63yMjm1P4hrKF6Rlt0B2Ps6zcseFZ-yORPR1~1ghj2wSxYF94iR481oE0M7yE4pX~e8FomFVN4rBDjJtlYKts-Ul--aJg0gyTDRDTQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Frequency_of_Parkinson_s_Disease_Genes_and_Role_of_PARK2_in_Amyotrophic_Lateral_Sclerosis_An_NGS_Study","translated_slug":"","page_count":10,"language":"en","content_type":"Work","owner":{"id":37515190,"first_name":"Rocco","middle_initials":null,"last_name":"Liguori","page_name":"RoccoLiguori","domain_name":"independent","created_at":"2015-11-02T22:11:11.958-08:00","display_name":"Rocco Liguori","url":"https://independent.academia.edu/RoccoLiguori"},"attachments":[{"id":98837018,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/98837018/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/98837018/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Frequency_of_Parkinson_s_Disease_Genes_a.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/98837018/pdf-libre.pdf?1676767123=\u0026response-content-disposition=attachment%3B+filename%3DFrequency_of_Parkinson_s_Disease_Genes_a.pdf\u0026Expires=1732820023\u0026Signature=OJEl9GrUc2f7ba5HvHo5QHgyH6~FzpOkfZg1JJA5VL1TB6o7PoCv9w7~s87t27W7o2xK26P1n9-0craJyG2vXDN80WyMkihi4H0l1NBsw6ANJKp3iNn6WVfAPFjm08~3WdiU-lRJi1xvXe9ddjjZfR2fL0gWIQf9HeX6rMyYpxNjIrpffZwIIIqgbHcLEzOmLDBAhPZCuyFI6cDeQe-5KBabwS1TNELmgEy41R8hn~zdi2Mc63yMjm1P4hrKF6Rlt0B2Ps6zcseFZ-yORPR1~1ghj2wSxYF94iR481oE0M7yE4pX~e8FomFVN4rBDjJtlYKts-Ul--aJg0gyTDRDTQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"},{"id":98837017,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/98837017/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/98837017/download_file","bulk_download_file_name":"Frequency_of_Parkinson_s_Disease_Genes_a.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/98837017/pdf-libre.pdf?1676767122=\u0026response-content-disposition=attachment%3B+filename%3DFrequency_of_Parkinson_s_Disease_Genes_a.pdf\u0026Expires=1732820023\u0026Signature=UxsO5lww3HXtGgfaiv-Sf1B05vSHMuVz48iADHqM3G8j0QQneW1q5Afq2oXMjBTth8Tk7tatyYbuCwhkb-ajUmR50iafREUZALPRNRkOFSoxvJQEmB9Wl6SNo-k5Xm32cBq0wlkTgYRBA11cllMvds~TBEzizZl3sDftnMqH2IJYWrwYa2JzGcp6fewuG4YjeS0Yx8Wbb7EOgQ~pFaq8OzcGYlnHoO9IBYJqZqRJGxNDTbUjmI4F4V14zb1h~KhYmNo8q3n8-EfJghcXz5Iif9UgDbrrW94uGu2glIL3qIgnSuj534drYqO4MN7IHfdMyBskK4VYxOLGED12~lNJ6w__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":4670,"name":"Pathogenesis","url":"https://www.academia.edu/Documents/in/Pathogenesis"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":42973,"name":"Amyotrophic Lateral Sclerosis","url":"https://www.academia.edu/Documents/in/Amyotrophic_Lateral_Sclerosis"},{"id":99773,"name":"Disease","url":"https://www.academia.edu/Documents/in/Disease"},{"id":181936,"name":"Gene","url":"https://www.academia.edu/Documents/in/Gene"},{"id":233229,"name":"Genes","url":"https://www.academia.edu/Documents/in/Genes"},{"id":589153,"name":"Pink","url":"https://www.academia.edu/Documents/in/Pink"},{"id":920888,"name":"Parkin","url":"https://www.academia.edu/Documents/in/Parkin"},{"id":1134529,"name":"Parkinson´s Disease","url":"https://www.academia.edu/Documents/in/Parkinson_s_Disease"}],"urls":[{"id":29091715,"url":"https://www.mdpi.com/2073-4425/13/8/1306/pdf"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="97130370"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/97130370/Plasma_and_CSF_Neurofilament_Light_Chain_in_Amyotrophic_Lateral_Sclerosis_A_Cross_Sectional_and_Longitudinal_Study"><img alt="Research paper thumbnail of Plasma and CSF Neurofilament Light Chain in Amyotrophic Lateral Sclerosis: A Cross-Sectional and Longitudinal Study" class="work-thumbnail" src="https://attachments.academia-assets.com/98837064/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/97130370/Plasma_and_CSF_Neurofilament_Light_Chain_in_Amyotrophic_Lateral_Sclerosis_A_Cross_Sectional_and_Longitudinal_Study">Plasma and CSF Neurofilament Light Chain in Amyotrophic Lateral Sclerosis: A Cross-Sectional and Longitudinal Study</a></div><div class="wp-workCard_item"><span>Frontiers in Aging Neuroscience</span><span>, 2021</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Background: Neurofilament light chain (NfL) is a validated biofluid marker of neuroaxonal damage ...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Background: Neurofilament light chain (NfL) is a validated biofluid marker of neuroaxonal damage with great potential for monitoring patients with neurodegenerative diseases. We aimed to further validate the clinical utility of plasma (p) vs. CSF (c) NfL for distinguishing patients with Amyotrophic Lateral Sclerosis (ALS) from ALS mimics. We also assessed the association of biomarker values with clinical variables and survival and established the longitudinal changes of pNfL during the disease course.Methods: We studied 231 prospectively enrolled patients with suspected ALS who underwent a standardized protocol including neurological examination, electromyography, brain MRI, and lumbar puncture. Patients who received an alternative clinical diagnosis were considered ALS mimics. We classified the patients based on the disease progression rate (DPR) into fast (DPR &gt; 1), intermediate (DPR 0.5–1), and slow progressors (DPR &lt; 0.5). All patients were screened for the most frequent A...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="107f18a796d4f50252b4c1d497548d55" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":98837064,"asset_id":97130370,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/98837064/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="97130370"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="97130370"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 97130370; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=97130370]").text(description); $(".js-view-count[data-work-id=97130370]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 97130370; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='97130370']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 97130370, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "107f18a796d4f50252b4c1d497548d55" } } $('.js-work-strip[data-work-id=97130370]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":97130370,"title":"Plasma and CSF Neurofilament Light Chain in Amyotrophic Lateral Sclerosis: A Cross-Sectional and Longitudinal Study","translated_title":"","metadata":{"abstract":"Background: Neurofilament light chain (NfL) is a validated biofluid marker of neuroaxonal damage with great potential for monitoring patients with neurodegenerative diseases. We aimed to further validate the clinical utility of plasma (p) vs. CSF (c) NfL for distinguishing patients with Amyotrophic Lateral Sclerosis (ALS) from ALS mimics. We also assessed the association of biomarker values with clinical variables and survival and established the longitudinal changes of pNfL during the disease course.Methods: We studied 231 prospectively enrolled patients with suspected ALS who underwent a standardized protocol including neurological examination, electromyography, brain MRI, and lumbar puncture. Patients who received an alternative clinical diagnosis were considered ALS mimics. We classified the patients based on the disease progression rate (DPR) into fast (DPR \u0026gt; 1), intermediate (DPR 0.5–1), and slow progressors (DPR \u0026lt; 0.5). All patients were screened for the most frequent A...","publisher":"Frontiers Media SA","publication_date":{"day":null,"month":null,"year":2021,"errors":{}},"publication_name":"Frontiers in Aging Neuroscience"},"translated_abstract":"Background: Neurofilament light chain (NfL) is a validated biofluid marker of neuroaxonal damage with great potential for monitoring patients with neurodegenerative diseases. We aimed to further validate the clinical utility of plasma (p) vs. CSF (c) NfL for distinguishing patients with Amyotrophic Lateral Sclerosis (ALS) from ALS mimics. We also assessed the association of biomarker values with clinical variables and survival and established the longitudinal changes of pNfL during the disease course.Methods: We studied 231 prospectively enrolled patients with suspected ALS who underwent a standardized protocol including neurological examination, electromyography, brain MRI, and lumbar puncture. Patients who received an alternative clinical diagnosis were considered ALS mimics. We classified the patients based on the disease progression rate (DPR) into fast (DPR \u0026gt; 1), intermediate (DPR 0.5–1), and slow progressors (DPR \u0026lt; 0.5). 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Seven physicians from 6 European EMG laboratories independently interpreted 81 EMG studies comprising 735 muscle tests and 726 tests on nerve segments. Pathophysiological conclusions were inferred from findings of these tests without considering clinical information. For most combinations of findings, both the inter-and intraobserver variations on the interpretation were low, suggesting that common criteria for pathophysiological interpretations were used and that these were used consistently. For some combinations of findings, however, there was disagreement on whether these indicated specific or unspecific pathophysiological changes. In particular disagreement on whether findings indicated demyelination may be of clinical significance. A large part of the intraobserver variation may be explained by a change towards more cautious interpretations during the study for most of the physicians. 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="97130366"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/97130366/Orthodromic_sensory_conduction_along_the_ring_finger_in_normal_subjects_and_in_patients_with_a_carpal_tunnel_syndrome"><img alt="Research paper thumbnail of Orthodromic sensory conduction along the ring finger in normal subjects and in patients with a carpal tunnel syndrome" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/97130366/Orthodromic_sensory_conduction_along_the_ring_finger_in_normal_subjects_and_in_patients_with_a_carpal_tunnel_syndrome">Orthodromic sensory conduction along the ring finger in normal subjects and in patients with a carpal tunnel syndrome</a></div><div class="wp-workCard_item"><span>Electroencephalography and Clinical Neurophysiology/Evoked Potentials Section</span><span>, 1991</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">The purpose of the present study was to examine the value of measuring sensory conduction along t...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">The purpose of the present study was to examine the value of measuring sensory conduction along the median and ulnar nerves of the fourth finger in the diagnosis of a carpal tunnel syndrome (CTS). In 23 controls, sensory conductions along median and ulnar nerves were identical. In 28 of 38 patients with CTS, stimulation of the ring finger revealed a reduced conduction velocity along sensory median nerve fibres in contrast to normal conduction along ulnar sensory nerve fibres. In 5 patients, a sensory action potential was absent over the median nerve and in another 5 sensory conduction was normal along both nerves. We conclude that testing of sensory conduction along the ring finger is useful in about 74% of patients with CTS, while in the remaining 26% other fingers must be examined to establish the diagnosis.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="97130366"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="97130366"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 97130366; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=97130366]").text(description); $(".js-view-count[data-work-id=97130366]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 97130366; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='97130366']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 97130366, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=97130366]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":97130366,"title":"Orthodromic sensory conduction along the ring finger in normal subjects and in patients with a carpal tunnel syndrome","translated_title":"","metadata":{"abstract":"The purpose of the present study was to examine the value of measuring sensory conduction along the median and ulnar nerves of the fourth finger in the diagnosis of a carpal tunnel syndrome (CTS). In 23 controls, sensory conductions along median and ulnar nerves were identical. In 28 of 38 patients with CTS, stimulation of the ring finger revealed a reduced conduction velocity along sensory median nerve fibres in contrast to normal conduction along ulnar sensory nerve fibres. In 5 patients, a sensory action potential was absent over the median nerve and in another 5 sensory conduction was normal along both nerves. We conclude that testing of sensory conduction along the ring finger is useful in about 74% of patients with CTS, while in the remaining 26% other fingers must be examined to establish the diagnosis.","publisher":"Elsevier BV","publication_date":{"day":null,"month":null,"year":1991,"errors":{}},"publication_name":"Electroencephalography and Clinical Neurophysiology/Evoked Potentials Section"},"translated_abstract":"The purpose of the present study was to examine the value of measuring sensory conduction along the median and ulnar nerves of the fourth finger in the diagnosis of a carpal tunnel syndrome (CTS). In 23 controls, sensory conductions along median and ulnar nerves were identical. In 28 of 38 patients with CTS, stimulation of the ring finger revealed a reduced conduction velocity along sensory median nerve fibres in contrast to normal conduction along ulnar sensory nerve fibres. In 5 patients, a sensory action potential was absent over the median nerve and in another 5 sensory conduction was normal along both nerves. We conclude that testing of sensory conduction along the ring finger is useful in about 74% of patients with CTS, while in the remaining 26% other fingers must be examined to establish the diagnosis.","internal_url":"https://www.academia.edu/97130366/Orthodromic_sensory_conduction_along_the_ring_finger_in_normal_subjects_and_in_patients_with_a_carpal_tunnel_syndrome","translated_internal_url":"","created_at":"2023-02-18T14:31:19.821-08:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37515190,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Orthodromic_sensory_conduction_along_the_ring_finger_in_normal_subjects_and_in_patients_with_a_carpal_tunnel_syndrome","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":37515190,"first_name":"Rocco","middle_initials":null,"last_name":"Liguori","page_name":"RoccoLiguori","domain_name":"independent","created_at":"2015-11-02T22:11:11.958-08:00","display_name":"Rocco Liguori","url":"https://independent.academia.edu/RoccoLiguori"},"attachments":[],"research_interests":[{"id":221,"name":"Psychology","url":"https://www.academia.edu/Documents/in/Psychology"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":54589,"name":"Anatomy","url":"https://www.academia.edu/Documents/in/Anatomy"},{"id":119665,"name":"Reaction Time","url":"https://www.academia.edu/Documents/in/Reaction_Time"},{"id":134095,"name":"Muscles","url":"https://www.academia.edu/Documents/in/Muscles"},{"id":170918,"name":"Electromyography","url":"https://www.academia.edu/Documents/in/Electromyography"},{"id":220450,"name":"Carpal Tunnel Syndrome","url":"https://www.academia.edu/Documents/in/Carpal_Tunnel_Syndrome"},{"id":263020,"name":"Clinical Neurophysiology","url":"https://www.academia.edu/Documents/in/Clinical_Neurophysiology"},{"id":289271,"name":"Aged","url":"https://www.academia.edu/Documents/in/Aged"},{"id":500368,"name":"Hand","url":"https://www.academia.edu/Documents/in/Hand"},{"id":585241,"name":"Conduction Velocity","url":"https://www.academia.edu/Documents/in/Conduction_Velocity"},{"id":1028516,"name":"Fingers","url":"https://www.academia.edu/Documents/in/Fingers"},{"id":1292776,"name":"Nerve Conduction Velocity","url":"https://www.academia.edu/Documents/in/Nerve_Conduction_Velocity"},{"id":1292780,"name":"Median Nerve","url":"https://www.academia.edu/Documents/in/Median_Nerve"},{"id":2079177,"name":"Forearm","url":"https://www.academia.edu/Documents/in/Forearm"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="97130365"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/97130365/Muscle_sympathetic_response_to_arousal_predicts_neurovascular_reactivity_during_mental_stress"><img alt="Research paper thumbnail of Muscle sympathetic response to arousal predicts neurovascular reactivity during mental stress" class="work-thumbnail" src="https://attachments.academia-assets.com/98837109/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/97130365/Muscle_sympathetic_response_to_arousal_predicts_neurovascular_reactivity_during_mental_stress">Muscle sympathetic response to arousal predicts neurovascular reactivity during mental stress</a></div><div class="wp-workCard_item"><span>The Journal of Physiology</span><span>, 2012</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="eeaac68cc0cc305e0b8071f7c61c4bca" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":98837109,"asset_id":97130365,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/98837109/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="97130365"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="97130365"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 97130365; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=97130365]").text(description); $(".js-view-count[data-work-id=97130365]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 97130365; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='97130365']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 97130365, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); 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Both phases induce blood pressure (BP) increases whereas effects on muscle sympathetic nerve activity (MSNA) vary: in approximately 50% of healthy subjects (responders) arousal induces a brief MSNA reduction, which is absent in the remaining 50% (non-responders). • We now report a link between the arousal response and neurovascular effects of MS in healthy males. • Our data show that during MS, responders to arousal exhibited a significant decrease of MSNA and a lesser BP increase compared to non-responders. The whole material displayed a positive correlation between MSNA responses induced by arousal and MS. In addition, arousal induced MSNA changes correlated positively with BP changes during MS. • We conclude that the MSNA response to arousal predicts MSNA and BP responses to MS.","publication_date":{"day":null,"month":null,"year":2012,"errors":{}},"publication_name":"The Journal of 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thumbnail of Hemifacial spasm in sleep" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/97130364/Hemifacial_spasm_in_sleep">Hemifacial spasm in sleep</a></div><div class="wp-workCard_item"><span>Neurology</span><span>, 1986</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">We conducted polygraphic studies during wakefulness and all-night sleep in 13 patients with crypt...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">We conducted polygraphic studies during wakefulness and all-night sleep in 13 patients with cryptogenic and 3 with postparalytic hemifacial spasm. The movements decreased progressively with deepening sleep stages, reaching lowest values in REM sleep. The reduction was inversely related to the severity of movements during wakefulness. There was no relation between hemifacial spasm and mimic activity on the unaffected side. Central inhibitory processes may account for the partial decline in intensity of the movements in sleep.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="97130364"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="97130364"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 97130364; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=97130364]").text(description); $(".js-view-count[data-work-id=97130364]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 97130364; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='97130364']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 97130364, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=97130364]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":97130364,"title":"Hemifacial spasm in sleep","translated_title":"","metadata":{"abstract":"We conducted polygraphic studies during wakefulness and all-night sleep in 13 patients with cryptogenic and 3 with postparalytic hemifacial spasm. The movements decreased progressively with deepening sleep stages, reaching lowest values in REM sleep. The reduction was inversely related to the severity of movements during wakefulness. There was no relation between hemifacial spasm and mimic activity on the unaffected side. Central inhibitory processes may account for the partial decline in intensity of the movements in sleep.","publisher":"Ovid Technologies (Wolters Kluwer Health)","publication_date":{"day":null,"month":null,"year":1986,"errors":{}},"publication_name":"Neurology"},"translated_abstract":"We conducted polygraphic studies during wakefulness and all-night sleep in 13 patients with cryptogenic and 3 with postparalytic hemifacial spasm. The movements decreased progressively with deepening sleep stages, reaching lowest values in REM sleep. The reduction was inversely related to the severity of movements during wakefulness. There was no relation between hemifacial spasm and mimic activity on the unaffected side. Central inhibitory processes may account for the partial decline in intensity of the movements in sleep.","internal_url":"https://www.academia.edu/97130364/Hemifacial_spasm_in_sleep","translated_internal_url":"","created_at":"2023-02-18T14:31:19.520-08:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37515190,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Hemifacial_spasm_in_sleep","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":37515190,"first_name":"Rocco","middle_initials":null,"last_name":"Liguori","page_name":"RoccoLiguori","domain_name":"independent","created_at":"2015-11-02T22:11:11.958-08:00","display_name":"Rocco Liguori","url":"https://independent.academia.edu/RoccoLiguori"},"attachments":[],"research_interests":[{"id":237,"name":"Cognitive Science","url":"https://www.academia.edu/Documents/in/Cognitive_Science"},{"id":623,"name":"Neurology","url":"https://www.academia.edu/Documents/in/Neurology"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":133324,"name":"Sleep","url":"https://www.academia.edu/Documents/in/Sleep"},{"id":170918,"name":"Electromyography","url":"https://www.academia.edu/Documents/in/Electromyography"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":289271,"name":"Aged","url":"https://www.academia.edu/Documents/in/Aged"},{"id":294768,"name":"Wakefulness","url":"https://www.academia.edu/Documents/in/Wakefulness"},{"id":592786,"name":"Rem Sleep","url":"https://www.academia.edu/Documents/in/Rem_Sleep"},{"id":1239755,"name":"Neurosciences","url":"https://www.academia.edu/Documents/in/Neurosciences"},{"id":1772810,"name":"Sleep Stages","url":"https://www.academia.edu/Documents/in/Sleep_Stages"},{"id":2467158,"name":"Hemifacial spasm","url":"https://www.academia.edu/Documents/in/Hemifacial_spasm"},{"id":2517850,"name":"spasm","url":"https://www.academia.edu/Documents/in/spasm"}],"urls":[{"id":29091709,"url":"http://journals.lww.com/00006114-198602000-00026"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="97130363"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/97130363/ESTEEM_European_Standardised_Telematic_Tool_to_Evaluate_EMG_Knowledge_Based_Systems_and_Methods_AIM_Project_A2010"><img alt="Research paper thumbnail of ESTEEM (European Standardised Telematic Tool to Evaluate EMG Knowledge-Based Systems and Methods): AIM Project A2010" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/97130363/ESTEEM_European_Standardised_Telematic_Tool_to_Evaluate_EMG_Knowledge_Based_Systems_and_Methods_AIM_Project_A2010">ESTEEM (European Standardised Telematic Tool to Evaluate EMG Knowledge-Based Systems and Methods): AIM Project A2010</a></div><div class="wp-workCard_item"><span>Computer Methods and Programs in Biomedicine</span><span>, 1994</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">ESTEEM is an AIM project which is primarily concerned with how to develop, integrate and clinical...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">ESTEEM is an AIM project which is primarily concerned with how to develop, integrate and clinically test knowledge-based systems for electromyography (EMG) in order to get them generally acceptable, useful and applicable into disseminated clinical routines. A medical workstation entitled the &amp;#39;EMG-Platform&amp;#39; on which different kinds of application modules including KBSs can be interfaced to a kernel is being developed. Accordingly, an EMG communication protocol is being developed. The ESTEEM consortium is composed of a technical specialist group and a group of clinical experts in EMG from seven European countries. The last group has, besides extensive data collection for building up a multicentre EMG database, agreed on a common EMG terminology and a subsequent general EMG data set specification which covers the informatic needs for describing an EMG examination of different &amp;#39;EMG schools&amp;#39;.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="97130363"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="97130363"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 97130363; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=97130363]").text(description); $(".js-view-count[data-work-id=97130363]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 97130363; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='97130363']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 97130363, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=97130363]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":97130363,"title":"ESTEEM (European Standardised Telematic Tool to Evaluate EMG Knowledge-Based Systems and Methods): AIM Project A2010","translated_title":"","metadata":{"abstract":"ESTEEM is an AIM project which is primarily concerned with how to develop, integrate and clinically test knowledge-based systems for electromyography (EMG) in order to get them generally acceptable, useful and applicable into disseminated clinical routines. 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Accordingly, an EMG communication protocol is being developed. The ESTEEM consortium is composed of a technical specialist group and a group of clinical experts in EMG from seven European countries. The last group has, besides extensive data collection for building up a multicentre EMG database, agreed on a common EMG terminology and a subsequent general EMG data set specification which covers the informatic needs for describing an EMG examination of different \u0026amp;#39;EMG schools\u0026amp;#39;.","internal_url":"https://www.academia.edu/97130363/ESTEEM_European_Standardised_Telematic_Tool_to_Evaluate_EMG_Knowledge_Based_Systems_and_Methods_AIM_Project_A2010","translated_internal_url":"","created_at":"2023-02-18T14:31:19.387-08:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37515190,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"ESTEEM_European_Standardised_Telematic_Tool_to_Evaluate_EMG_Knowledge_Based_Systems_and_Methods_AIM_Project_A2010","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":37515190,"first_name":"Rocco","middle_initials":null,"last_name":"Liguori","page_name":"RoccoLiguori","domain_name":"independent","created_at":"2015-11-02T22:11:11.958-08:00","display_name":"Rocco Liguori","url":"https://independent.academia.edu/RoccoLiguori"},"attachments":[],"research_interests":[{"id":422,"name":"Computer Science","url":"https://www.academia.edu/Documents/in/Computer_Science"},{"id":470,"name":"Expert Systems","url":"https://www.academia.edu/Documents/in/Expert_Systems"},{"id":1131,"name":"Biomedical Engineering","url":"https://www.academia.edu/Documents/in/Biomedical_Engineering"},{"id":5832,"name":"Terminology","url":"https://www.academia.edu/Documents/in/Terminology"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":42277,"name":"Knowledge Based System","url":"https://www.academia.edu/Documents/in/Knowledge_Based_System"},{"id":75826,"name":"Europe","url":"https://www.academia.edu/Documents/in/Europe"},{"id":145675,"name":"Standardisation","url":"https://www.academia.edu/Documents/in/Standardisation"},{"id":170918,"name":"Electromyography","url":"https://www.academia.edu/Documents/in/Electromyography"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="97130362"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/97130362/Sleep_stage_related_changes_in_sympathetic_sudomotor_and_vasomotor_skin_responses_in_man"><img alt="Research paper thumbnail of Sleep stage-related changes in sympathetic sudomotor and vasomotor skin responses in man" class="work-thumbnail" src="https://attachments.academia-assets.com/98837114/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/97130362/Sleep_stage_related_changes_in_sympathetic_sudomotor_and_vasomotor_skin_responses_in_man">Sleep stage-related changes in sympathetic sudomotor and vasomotor skin responses in man</a></div><div class="wp-workCard_item"><span>Clinical Neurophysiology</span><span>, 2000</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="c95ef0b927d2c45b0ae9d0b33797ee60" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":98837114,"asset_id":97130362,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/98837114/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="97130362"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="97130362"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 97130362; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=97130362]").text(description); $(".js-view-count[data-work-id=97130362]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 97130362; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='97130362']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 97130362, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); 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Methods: Five healthy subjects underwent a night of videopolysomnographic recording. Spontaneous SSR were recorded via surface electrodes placed on the dorsal and ventral aspect of the hand while SVR were evaluated by means of an infrared photoelectric transducer placed on the index ®nger. SSR and SVR were evoked via electrical stimuli applied to the left supraorbital nerve. Results: Spontaneous SSR frequency was highest during stage 4 of NREM sleep and lowest during REM phases. On the contrary, spontaneous SVR frequency reached its lowest value during stage 4 and its highest value during stage 2 of NREM sleep, remaining at levels above waking values during REM. SSR could be elicited by stimuli inducing arousal during light sleep but it was absent during deep NREM and REM sleep. SVR could be evoked throughout NREM and REM sleep. Conclusions: Spontaneous SSR and SVR act differently during physiological modi®cations of vigilance. Evoked SSR is strictly dependent upon the state of vigilance, whereas evoked SVR shows no modi®cations during the different stages of the wake±sleep cycle.","publication_date":{"day":null,"month":null,"year":2000,"errors":{}},"publication_name":"Clinical 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Liguori","url":"https://independent.academia.edu/RoccoLiguori"},"attachments":[{"id":98837114,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/98837114/thumbnails/1.jpg","file_name":"s1388-2457_2899_2900294-120230218-1-3k54cr.pdf","download_url":"https://www.academia.edu/attachments/98837114/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Sleep_stage_related_changes_in_sympathet.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/98837114/s1388-2457_2899_2900294-120230218-1-3k54cr-libre.pdf?1676765278=\u0026response-content-disposition=attachment%3B+filename%3DSleep_stage_related_changes_in_sympathet.pdf\u0026Expires=1732820023\u0026Signature=bMtHOkPHIbqJVJyxpt6tcOSE0aZDZkJuePwvc8WGtCzFte2L5YzGhfaG6q8LN9fYUrj7iNDo96MKLhSR2vcjYlDXflQXnOxCzZH~UbzOnQCXa1-ODwMT6L3BY0SLc8w~oG8gx-TC3NML8VZSVn98Ig4xx0SM7k2DElrgOPyVxr2Is2bl-dQS30kA6S2ghK6c0XcPOip35aOikpNU72DkI8FmClbMYDVRLvbi~aE2tqk2iFC9ds1G31m1DblJciPkGAMnYXN03GkAvwuj98i8N4W5Wnhih3QbsQnHrVhsmWw~nVOs2pVp-0PQVC485uVOXbZ0z69IbdnUcA6O-Vfmaw__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":48,"name":"Engineering","url":"https://www.academia.edu/Documents/in/Engineering"},{"id":221,"name":"Psychology","url":"https://www.academia.edu/Documents/in/Psychology"},{"id":10904,"name":"Electroencephalography","url":"https://www.academia.edu/Documents/in/Electroencephalography"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":61474,"name":"Brain","url":"https://www.academia.edu/Documents/in/Brain"},{"id":61516,"name":"Evoked Potentials","url":"https://www.academia.edu/Documents/in/Evoked_Potentials"},{"id":119665,"name":"Reaction Time","url":"https://www.academia.edu/Documents/in/Reaction_Time"},{"id":170918,"name":"Electromyography","url":"https://www.academia.edu/Documents/in/Electromyography"},{"id":263020,"name":"Clinical Neurophysiology","url":"https://www.academia.edu/Documents/in/Clinical_Neurophysiology"},{"id":335361,"name":"Infrared","url":"https://www.academia.edu/Documents/in/Infrared"},{"id":592786,"name":"Rem Sleep","url":"https://www.academia.edu/Documents/in/Rem_Sleep"},{"id":749302,"name":"Indexation","url":"https://www.academia.edu/Documents/in/Indexation"},{"id":1142759,"name":"Healthy Subjects","url":"https://www.academia.edu/Documents/in/Healthy_Subjects"},{"id":1772810,"name":"Sleep Stages","url":"https://www.academia.edu/Documents/in/Sleep_Stages"},{"id":2850567,"name":"slow wave sleep","url":"https://www.academia.edu/Documents/in/slow_wave_sleep"},{"id":2922956,"name":"Psychology and Cognitive Sciences","url":"https://www.academia.edu/Documents/in/Psychology_and_Cognitive_Sciences"},{"id":3763225,"name":"Medical and Health Sciences","url":"https://www.academia.edu/Documents/in/Medical_and_Health_Sciences"}],"urls":[{"id":29091708,"url":"https://api.elsevier.com/content/article/PII:S1388245799002941?httpAccept=text/xml"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="97130361"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/97130361/A_Defective_SERCA1_Protein_Is_Responsible_for_Congenital_Pseudomyotonia_in_Chianina_Cattle"><img alt="Research paper thumbnail of A Defective SERCA1 Protein Is Responsible for Congenital Pseudomyotonia in Chianina Cattle" class="work-thumbnail" src="https://attachments.academia-assets.com/98837049/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/97130361/A_Defective_SERCA1_Protein_Is_Responsible_for_Congenital_Pseudomyotonia_in_Chianina_Cattle">A Defective SERCA1 Protein Is Responsible for Congenital Pseudomyotonia in Chianina Cattle</a></div><div class="wp-workCard_item"><span>The American Journal of Pathology</span><span>, 2009</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="bff7d6f83bea0979025de11d8546fb28" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":98837049,"asset_id":97130361,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/98837049/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="97130361"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="97130361"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 97130361; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=97130361]").text(description); $(".js-view-count[data-work-id=97130361]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 97130361; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='97130361']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 97130361, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "bff7d6f83bea0979025de11d8546fb28" } } $('.js-work-strip[data-work-id=97130361]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":97130361,"title":"A Defective SERCA1 Protein Is Responsible for Congenital Pseudomyotonia in Chianina Cattle","translated_title":"","metadata":{"publisher":"Elsevier BV","grobid_abstract":"Recently, a muscular disorder defined as \"congenital pseudomyotonia\" was described in Chianina cattle, one of the most important Italian cattle breeds for quality meat and leather. The clinical phenotype of this disease is characterized by an exercise-induced muscle contracture that prevents animals from performing muscular activities. On the basis of clinical symptoms, Chianina pseudomyotonia appeared related to human Brody's disease, a rare inherited disorder of skeletal muscle function that results from a sarcoplasmic reticulum Ca 2؉-ATPase (SERCA1) deficiency caused by a defect in the ATP2A1 gene that encodes SERCA1. SERCA1 is involved in transporting calcium from the cytosol to the lumen of the sarcoplasmic reticulum. Recently, we identified the genetic defect underlying Chianina cattle pseudomyotonia. A missense mutation in exon 6 of the ATP2A1 gene, leading to an R164H substitution in the SERCA1 protein, was found. In this study, we provide biochemical evidence for a selective deficiency in SERCA1 protein levels in sarcoplasmic reticulum membranes from affected muscles, although mRNA levels are unaffected. The reduction of SERCA1 levels accounts for the reduced Ca 2؉-ATPase activity without any significant change in Ca 2؉-dependency. The loss of SERCA1 is not compensated for by the expression of the SERCA2 isoform. 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However, th...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Neurological symptoms are increasingly recognized in SARS-CoV-2 infected individuals. However, the neuropathogenesis remains unclear and it is not possible to define a specific damage pattern due to brain virus infection. In the present study, 33 cases of brain autopsies performed during the first (February–April 2020) and the second/third (November 2020–April 2021) pandemic waves are described. In all the cases, SARS-CoV-2 RNA was searched. Pathological findings are described and compared with those presently published.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="bf9b67d095c06c88bb4f4804f184f7ca" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":89833718,"asset_id":84996593,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/89833718/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="84996593"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="84996593"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 84996593; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=84996593]").text(description); $(".js-view-count[data-work-id=84996593]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 84996593; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='84996593']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 84996593, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "bf9b67d095c06c88bb4f4804f184f7ca" } } $('.js-work-strip[data-work-id=84996593]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":84996593,"title":"COVID-19 and the Brain: The Neuropathological Italian Experience on 33 Adult Autopsies","translated_title":"","metadata":{"abstract":"Neurological symptoms are increasingly recognized in SARS-CoV-2 infected individuals. However, the neuropathogenesis remains unclear and it is not possible to define a specific damage pattern due to brain virus infection. In the present study, 33 cases of brain autopsies performed during the first (February–April 2020) and the second/third (November 2020–April 2021) pandemic waves are described. In all the cases, SARS-CoV-2 RNA was searched. Pathological findings are described and compared with those presently published.","publisher":"MDPI AG","publication_name":"Biomolecules"},"translated_abstract":"Neurological symptoms are increasingly recognized in SARS-CoV-2 infected individuals. However, the neuropathogenesis remains unclear and it is not possible to define a specific damage pattern due to brain virus infection. In the present study, 33 cases of brain autopsies performed during the first (February–April 2020) and the second/third (November 2020–April 2021) pandemic waves are described. In all the cases, SARS-CoV-2 RNA was searched. Pathological findings are described and compared with those presently published.","internal_url":"https://www.academia.edu/84996593/COVID_19_and_the_Brain_The_Neuropathological_Italian_Experience_on_33_Adult_Autopsies","translated_internal_url":"","created_at":"2022-08-17T11:02:41.710-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37515190,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":89833718,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/89833718/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/89833718/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"COVID_19_and_the_Brain_The_Neuropatholog.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/89833718/pdf-libre.pdf?1660760448=\u0026response-content-disposition=attachment%3B+filename%3DCOVID_19_and_the_Brain_The_Neuropatholog.pdf\u0026Expires=1732820023\u0026Signature=GXX90pRGARBukSjLzY764RzuRcPYWwTRj1sPL7cXDWZ08pDoSYBDZwA-qZgO61bdyIJtVjDDauWkS7gpKFk~i4nNtHZ5Nayl3OxgIAPUBkZIOtVGk7eYCnlN4RaCcahr1OnjlJqGlZbszFL52ZX~0Y4e1Wna4h6wZ3lLLUyT~dzKZ6n4ZPIKVnJa-STzznEQw~mZ6rnUUczD7uieACgTZJ39L6Plp7wH1slC9e43pUUgqJWFYxRK-UNbRUhMoXhIKzbXsyFd6~QyunajoH83ixzFbhMrXOUsTSWd4WzH6duH7kM7cWD6TtPsgpkZaZIBJGSyLh8wAIS7QvV0vsJ~JQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"COVID_19_and_the_Brain_The_Neuropathological_Italian_Experience_on_33_Adult_Autopsies","translated_slug":"","page_count":11,"language":"en","content_type":"Work","owner":{"id":37515190,"first_name":"Rocco","middle_initials":null,"last_name":"Liguori","page_name":"RoccoLiguori","domain_name":"independent","created_at":"2015-11-02T22:11:11.958-08:00","display_name":"Rocco Liguori","url":"https://independent.academia.edu/RoccoLiguori"},"attachments":[{"id":89833718,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/89833718/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/89833718/download_file?st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"COVID_19_and_the_Brain_The_Neuropatholog.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/89833718/pdf-libre.pdf?1660760448=\u0026response-content-disposition=attachment%3B+filename%3DCOVID_19_and_the_Brain_The_Neuropatholog.pdf\u0026Expires=1732820023\u0026Signature=GXX90pRGARBukSjLzY764RzuRcPYWwTRj1sPL7cXDWZ08pDoSYBDZwA-qZgO61bdyIJtVjDDauWkS7gpKFk~i4nNtHZ5Nayl3OxgIAPUBkZIOtVGk7eYCnlN4RaCcahr1OnjlJqGlZbszFL52ZX~0Y4e1Wna4h6wZ3lLLUyT~dzKZ6n4ZPIKVnJa-STzznEQw~mZ6rnUUczD7uieACgTZJ39L6Plp7wH1slC9e43pUUgqJWFYxRK-UNbRUhMoXhIKzbXsyFd6~QyunajoH83ixzFbhMrXOUsTSWd4WzH6duH7kM7cWD6TtPsgpkZaZIBJGSyLh8wAIS7QvV0vsJ~JQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"},{"id":89833721,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/89833721/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/89833721/download_file","bulk_download_file_name":"COVID_19_and_the_Brain_The_Neuropatholog.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/89833721/pdf-libre.pdf?1660760445=\u0026response-content-disposition=attachment%3B+filename%3DCOVID_19_and_the_Brain_The_Neuropatholog.pdf\u0026Expires=1732820023\u0026Signature=BPTqRc1aOatgS9PmpuGg2GP03iQ0hkbMPp8fFBdKAA6SbkpSNGUG6K4K2tMnTxh~oFRX780BI5SsQLRpbngwf6WhRRmki8aGolr~rjjThjJ2bg2tRDmdvnHV26VgBDN18DF7FZ1~WtkV6C7wSaH6nGwJquIWgKvxxnbWv3u8zaK09x3uLyLWhjFFNeLHvmYjrBwdmr9-psMAfphbKr-DO2UvrI9cuVWR6QtCDzk7KiA8BU1r84C87lzgB9rG-8bo6Mq5WN9gLeBwb7dCYGCW6mYDo57by7gX4oNosLvzzpa6MFVUsCOiM1hm3saEVbhYE9XJfN8UN1IG29ufTPwd8A__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":314484,"name":"Autopsy","url":"https://www.academia.edu/Documents/in/Autopsy"},{"id":402990,"name":"Biomolecules","url":"https://www.academia.edu/Documents/in/Biomolecules"},{"id":1028827,"name":"Pandemic","url":"https://www.academia.edu/Documents/in/Pandemic"},{"id":1729106,"name":"Pathological","url":"https://www.academia.edu/Documents/in/Pathological"}],"urls":[{"id":23050665,"url":"https://www.mdpi.com/2218-273X/12/5/629/pdf"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="84996588"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/84996588/Epidemiological_Clinical_and_Genetic_Features_of_ALS_in_the_Last_Decade_A_Prospective_Population_Based_Study_in_the_Emilia_Romagna_Region_of_Italy"><img alt="Research paper thumbnail of Epidemiological, Clinical and Genetic Features of ALS in the Last Decade: A Prospective Population-Based Study in the Emilia Romagna Region of Italy" class="work-thumbnail" src="https://attachments.academia-assets.com/89833714/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/84996588/Epidemiological_Clinical_and_Genetic_Features_of_ALS_in_the_Last_Decade_A_Prospective_Population_Based_Study_in_the_Emilia_Romagna_Region_of_Italy">Epidemiological, Clinical and Genetic Features of ALS in the Last Decade: A Prospective Population-Based Study in the Emilia Romagna Region of Italy</a></div><div class="wp-workCard_item"><span>Biomedicines</span><span>, 2022</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Increased incidence rates of amyotrophic lateral sclerosis (ALS) have been recently reported acro...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Increased incidence rates of amyotrophic lateral sclerosis (ALS) have been recently reported across various Western countries, although geographic and temporal variations in terms of incidence, clinical features and genetics are not fully elucidated. This study aimed to describe demographic, clinical feature and genotype–phenotype correlations of ALS cases over the last decade in the Emilia Romagna Region (ERR). From 2009 to 2019, our prospective population-based registry of ALS in the ERR of Northern Italy recorded 1613 patients receiving a diagnosis of ALS. The age- and sex-adjusted incidence rate was 3.13/100,000 population (M/F ratio: 1.21). The mean age at onset was 67.01 years; women, bulbar and respiratory phenotypes were associated with an older age, while C9orf72-mutated patients were generally younger. After peaking at 70–75 years, incidence rates, among women only, showed a bimodal distribution with a second slight increase after reaching 90 years of age. Familial cases c...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="f21adb1b513162e00226d0964027e2d3" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":89833714,"asset_id":84996588,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/89833714/download_file?st=MTczMjgxNjQyNCw4LjIyMi4yMDguMTQ2&st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="84996588"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="84996588"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 84996588; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=84996588]").text(description); $(".js-view-count[data-work-id=84996588]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 84996588; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='84996588']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 84996588, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "f21adb1b513162e00226d0964027e2d3" } } $('.js-work-strip[data-work-id=84996588]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":84996588,"title":"Epidemiological, Clinical and Genetic Features of ALS in the Last Decade: A Prospective Population-Based Study in the Emilia Romagna Region of Italy","translated_title":"","metadata":{"abstract":"Increased incidence rates of amyotrophic lateral sclerosis (ALS) have been recently reported across various Western countries, although geographic and temporal variations in terms of incidence, clinical features and genetics are not fully elucidated. This study aimed to describe demographic, clinical feature and genotype–phenotype correlations of ALS cases over the last decade in the Emilia Romagna Region (ERR). From 2009 to 2019, our prospective population-based registry of ALS in the ERR of Northern Italy recorded 1613 patients receiving a diagnosis of ALS. The age- and sex-adjusted incidence rate was 3.13/100,000 population (M/F ratio: 1.21). The mean age at onset was 67.01 years; women, bulbar and respiratory phenotypes were associated with an older age, while C9orf72-mutated patients were generally younger. After peaking at 70–75 years, incidence rates, among women only, showed a bimodal distribution with a second slight increase after reaching 90 years of age. Familial cases c...","publisher":"MDPI AG","publication_date":{"day":null,"month":null,"year":2022,"errors":{}},"publication_name":"Biomedicines"},"translated_abstract":"Increased incidence rates of amyotrophic lateral sclerosis (ALS) have been recently reported across various Western countries, although geographic and temporal variations in terms of incidence, clinical features and genetics are not fully elucidated. This study aimed to describe demographic, clinical feature and genotype–phenotype correlations of ALS cases over the last decade in the Emilia Romagna Region (ERR). From 2009 to 2019, our prospective population-based registry of ALS in the ERR of Northern Italy recorded 1613 patients receiving a diagnosis of ALS. The age- and sex-adjusted incidence rate was 3.13/100,000 population (M/F ratio: 1.21). The mean age at onset was 67.01 years; women, bulbar and respiratory phenotypes were associated with an older age, while C9orf72-mutated patients were generally younger. After peaking at 70–75 years, incidence rates, among women only, showed a bimodal distribution with a second slight increase after reaching 90 years of age. Familial cases c...","internal_url":"https://www.academia.edu/84996588/Epidemiological_Clinical_and_Genetic_Features_of_ALS_in_the_Last_Decade_A_Prospective_Population_Based_Study_in_the_Emilia_Romagna_Region_of_Italy","translated_internal_url":"","created_at":"2022-08-17T11:02:39.187-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37515190,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":89833714,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/89833714/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/89833714/download_file?st=MTczMjgxNjQyNCw4LjIyMi4yMDguMTQ2&st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Epidemiological_Clinical_and_Genetic_Fea.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/89833714/pdf-libre.pdf?1660760444=\u0026response-content-disposition=attachment%3B+filename%3DEpidemiological_Clinical_and_Genetic_Fea.pdf\u0026Expires=1732820023\u0026Signature=bLRhfP7Q~X5yJIJytVdTfbKzWfi5Hv3DyUpVcRHTzbnpox-wurJB5VzL7MFa8C3ezumrGhwxQcCf--KUoB41~u61ThjPK3-Y8Csg~jrmyOhXclMxf5TF1ZUEEp7mtItEBPEVyPHCqezV2DgtFNW8IFThM50XlJ6ykW0ncRonppjJfAvT9j~iQwb2hyNT20jej-QnRnNCrr7nLNG2LI2jRTCsmVwnC1fJiwybrgHOsJvJ~-3-7H98iHvYSvinUyheesKae-Iv1C~Ukw3c8kfvHiTh5xbZAEJOXr1M~QR46uUBSOS0rJJkyvkabTlVrfTYzKLH3mCvuCWDwWuHpEeZrg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Epidemiological_Clinical_and_Genetic_Features_of_ALS_in_the_Last_Decade_A_Prospective_Population_Based_Study_in_the_Emilia_Romagna_Region_of_Italy","translated_slug":"","page_count":13,"language":"en","content_type":"Work","owner":{"id":37515190,"first_name":"Rocco","middle_initials":null,"last_name":"Liguori","page_name":"RoccoLiguori","domain_name":"independent","created_at":"2015-11-02T22:11:11.958-08:00","display_name":"Rocco Liguori","url":"https://independent.academia.edu/RoccoLiguori"},"attachments":[{"id":89833714,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/89833714/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/89833714/download_file?st=MTczMjgxNjQyNCw4LjIyMi4yMDguMTQ2&st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Epidemiological_Clinical_and_Genetic_Fea.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/89833714/pdf-libre.pdf?1660760444=\u0026response-content-disposition=attachment%3B+filename%3DEpidemiological_Clinical_and_Genetic_Fea.pdf\u0026Expires=1732820023\u0026Signature=bLRhfP7Q~X5yJIJytVdTfbKzWfi5Hv3DyUpVcRHTzbnpox-wurJB5VzL7MFa8C3ezumrGhwxQcCf--KUoB41~u61ThjPK3-Y8Csg~jrmyOhXclMxf5TF1ZUEEp7mtItEBPEVyPHCqezV2DgtFNW8IFThM50XlJ6ykW0ncRonppjJfAvT9j~iQwb2hyNT20jej-QnRnNCrr7nLNG2LI2jRTCsmVwnC1fJiwybrgHOsJvJ~-3-7H98iHvYSvinUyheesKae-Iv1C~Ukw3c8kfvHiTh5xbZAEJOXr1M~QR46uUBSOS0rJJkyvkabTlVrfTYzKLH3mCvuCWDwWuHpEeZrg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":1085,"name":"Epidemiology","url":"https://www.academia.edu/Documents/in/Epidemiology"},{"id":5500,"name":"Incidence Geometry","url":"https://www.academia.edu/Documents/in/Incidence_Geometry"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":42973,"name":"Amyotrophic Lateral Sclerosis","url":"https://www.academia.edu/Documents/in/Amyotrophic_Lateral_Sclerosis"},{"id":64336,"name":"Population","url":"https://www.academia.edu/Documents/in/Population"},{"id":3687363,"name":"biomedicines","url":"https://www.academia.edu/Documents/in/biomedicines"}],"urls":[{"id":23050661,"url":"https://www.mdpi.com/2227-9059/10/4/819/pdf"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="84996583"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/84996583/A_Rapid_and_Simple_UHPLC_MS_MS_Method_for_Quantification_of_Plasma_Globotriaosylsphingosine_lyso_Gb3_"><img alt="Research paper thumbnail of A Rapid and Simple UHPLC-MS/MS Method for Quantification of Plasma Globotriaosylsphingosine (lyso-Gb3)" class="work-thumbnail" src="https://attachments.academia-assets.com/89833711/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/84996583/A_Rapid_and_Simple_UHPLC_MS_MS_Method_for_Quantification_of_Plasma_Globotriaosylsphingosine_lyso_Gb3_">A Rapid and Simple UHPLC-MS/MS Method for Quantification of Plasma Globotriaosylsphingosine (lyso-Gb3)</a></div><div class="wp-workCard_item"><span>Molecules</span><span>, 2021</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A gene...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A gene (GLA) mutations, resulting in loss of activity of the lysosomal hydrolase, α-galactosidase A (α-Gal A). As a result, the main glycosphingolipid substrates, globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), accumulate in plasma, urine, and tissues. Here, we propose a simple, fast, and sensitive method for plasma quantification of lyso-Gb3, the most promising secondary screening target for FD. Assisted protein precipitation with methanol using Phree cartridges was performed as sample pre-treatment and plasma concentrations were measured using UHPLC-MS/MS operating in MRM positive electrospray ionization. Method validation provided excellent results for the whole calibration range (0.25–100 ng/mL). Intra-assay and inter-assay accuracy and precision (CV%) were calculated as &lt;10%. The method was successfully applied to 55 plasma samples obtained from 34 patients with FD...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="2c3e7c68a7156239ee508ed0c4c3ed0e" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":89833711,"asset_id":84996583,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/89833711/download_file?st=MTczMjgxNjQyNCw4LjIyMi4yMDguMTQ2&st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="84996583"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="84996583"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 84996583; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=84996583]").text(description); $(".js-view-count[data-work-id=84996583]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 84996583; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='84996583']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 84996583, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "2c3e7c68a7156239ee508ed0c4c3ed0e" } } $('.js-work-strip[data-work-id=84996583]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":84996583,"title":"A Rapid and Simple UHPLC-MS/MS Method for Quantification of Plasma Globotriaosylsphingosine (lyso-Gb3)","translated_title":"","metadata":{"abstract":"Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A gene (GLA) mutations, resulting in loss of activity of the lysosomal hydrolase, α-galactosidase A (α-Gal A). As a result, the main glycosphingolipid substrates, globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), accumulate in plasma, urine, and tissues. Here, we propose a simple, fast, and sensitive method for plasma quantification of lyso-Gb3, the most promising secondary screening target for FD. Assisted protein precipitation with methanol using Phree cartridges was performed as sample pre-treatment and plasma concentrations were measured using UHPLC-MS/MS operating in MRM positive electrospray ionization. Method validation provided excellent results for the whole calibration range (0.25–100 ng/mL). Intra-assay and inter-assay accuracy and precision (CV%) were calculated as \u0026lt;10%. The method was successfully applied to 55 plasma samples obtained from 34 patients with FD...","publisher":"MDPI AG","publication_date":{"day":null,"month":null,"year":2021,"errors":{}},"publication_name":"Molecules"},"translated_abstract":"Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A gene (GLA) mutations, resulting in loss of activity of the lysosomal hydrolase, α-galactosidase A (α-Gal A). As a result, the main glycosphingolipid substrates, globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), accumulate in plasma, urine, and tissues. Here, we propose a simple, fast, and sensitive method for plasma quantification of lyso-Gb3, the most promising secondary screening target for FD. Assisted protein precipitation with methanol using Phree cartridges was performed as sample pre-treatment and plasma concentrations were measured using UHPLC-MS/MS operating in MRM positive electrospray ionization. Method validation provided excellent results for the whole calibration range (0.25–100 ng/mL). Intra-assay and inter-assay accuracy and precision (CV%) were calculated as \u0026lt;10%. The method was successfully applied to 55 plasma samples obtained from 34 patients with FD...","internal_url":"https://www.academia.edu/84996583/A_Rapid_and_Simple_UHPLC_MS_MS_Method_for_Quantification_of_Plasma_Globotriaosylsphingosine_lyso_Gb3_","translated_internal_url":"","created_at":"2022-08-17T11:02:36.681-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37515190,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":89833711,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/89833711/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/89833711/download_file?st=MTczMjgxNjQyNCw4LjIyMi4yMDguMTQ2&st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"A_Rapid_and_Simple_UHPLC_MS_MS_Method_fo.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/89833711/pdf-libre.pdf?1660760441=\u0026response-content-disposition=attachment%3B+filename%3DA_Rapid_and_Simple_UHPLC_MS_MS_Method_fo.pdf\u0026Expires=1732820023\u0026Signature=dHQTUKKFLtwIbrwu3OyMxLjMxYLeihIo8uXGN47xgxbsbQoqDEOebe9sSlV12dpGvdZfASUhCYaIKRNYkPs2o3tyH0Z-7EHaHzDIg-WkSem-NBnYsMVLixSRlsZqK4dx0Fd2mMMK3YLDHn07koRe0EL0PMLIwdDtXssF0ufQdpT9ExYYxrT9cw1KNMuRa7ByMGCUjQs~uCBs2E~K0hJG4qYHR073QfKMvOU~juUmU4vh0QMgGBfX2Eae1UsE41cvlEds8TDRoK1e7~UTAKDzXOWV4ZKcMPZS6ewiBuNTmjVtSTYdVis-iqlISc-ItcqRs2~q9NBG702jHuhXoyMJCQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"A_Rapid_and_Simple_UHPLC_MS_MS_Method_for_Quantification_of_Plasma_Globotriaosylsphingosine_lyso_Gb3_","translated_slug":"","page_count":10,"language":"en","content_type":"Work","owner":{"id":37515190,"first_name":"Rocco","middle_initials":null,"last_name":"Liguori","page_name":"RoccoLiguori","domain_name":"independent","created_at":"2015-11-02T22:11:11.958-08:00","display_name":"Rocco Liguori","url":"https://independent.academia.edu/RoccoLiguori"},"attachments":[{"id":89833711,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/89833711/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/89833711/download_file?st=MTczMjgxNjQyNCw4LjIyMi4yMDguMTQ2&st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"A_Rapid_and_Simple_UHPLC_MS_MS_Method_fo.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/89833711/pdf-libre.pdf?1660760441=\u0026response-content-disposition=attachment%3B+filename%3DA_Rapid_and_Simple_UHPLC_MS_MS_Method_fo.pdf\u0026Expires=1732820023\u0026Signature=dHQTUKKFLtwIbrwu3OyMxLjMxYLeihIo8uXGN47xgxbsbQoqDEOebe9sSlV12dpGvdZfASUhCYaIKRNYkPs2o3tyH0Z-7EHaHzDIg-WkSem-NBnYsMVLixSRlsZqK4dx0Fd2mMMK3YLDHn07koRe0EL0PMLIwdDtXssF0ufQdpT9ExYYxrT9cw1KNMuRa7ByMGCUjQs~uCBs2E~K0hJG4qYHR073QfKMvOU~juUmU4vh0QMgGBfX2Eae1UsE41cvlEds8TDRoK1e7~UTAKDzXOWV4ZKcMPZS6ewiBuNTmjVtSTYdVis-iqlISc-ItcqRs2~q9NBG702jHuhXoyMJCQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":523,"name":"Chemistry","url":"https://www.academia.edu/Documents/in/Chemistry"},{"id":531,"name":"Organic Chemistry","url":"https://www.academia.edu/Documents/in/Organic_Chemistry"},{"id":4656,"name":"Chromatography","url":"https://www.academia.edu/Documents/in/Chromatography"},{"id":328449,"name":"Molecules","url":"https://www.academia.edu/Documents/in/Molecules"}],"urls":[{"id":23050657,"url":"https://www.mdpi.com/1420-3049/26/23/7358/pdf"}]}, dispatcherData: dispatcherData }); 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="84996576"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/84996576/CSF_Heavy_Neurofilament_May_Discriminate_and_Predict_Motor_Neuron_Diseases_with_Upper_Motor_Neuron_Involvement"><img alt="Research paper thumbnail of CSF Heavy Neurofilament May Discriminate and Predict Motor Neuron Diseases with Upper Motor Neuron Involvement" class="work-thumbnail" src="https://attachments.academia-assets.com/89833706/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/84996576/CSF_Heavy_Neurofilament_May_Discriminate_and_Predict_Motor_Neuron_Diseases_with_Upper_Motor_Neuron_Involvement">CSF Heavy Neurofilament May Discriminate and Predict Motor Neuron Diseases with Upper Motor Neuron Involvement</a></div><div class="wp-workCard_item"><span>Biomedicines</span><span>, 2021</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Objective: To assess whether phosphorylated neurofilament heavy chain (pNfH) can discriminate dif...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Objective: To assess whether phosphorylated neurofilament heavy chain (pNfH) can discriminate different upper motor neuron (UMN) syndromes, namely, ALS, UMN-predominant ALS, primary lateral sclerosis (PLS) and hereditary spastic paraparesis (hSP) and to test the prognostic value of pNfH in UMN diseases. Methods: CSF and serum pNfH were measured in 143 patients presenting with signs of UMN and later diagnosed with classic/bulbar ALS, UMNp-ALS, hSP, and PLS. Between-group comparisons were drawn by ANOVA and receiver operating characteristic (ROC) analysis was performed. The prognostic value of pNfH was tested by the Cox regression model. Results: ALS and UMNp-ALS patients had higher CSF pNfH compared to PLS and hSP (p &lt; 0.001). ROC analysis showed that CSF pNfH could differentiate ALS, UMNp-ALS included, from PLS and hSP (AUC = 0.75 and 0.95, respectively), while serum did not perform as well. In multivariable survival analysis among the totality of UMN patients and classic/bulbar ...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="e78ae600e8a73fe33d4c62a0230a87ea" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":89833706,"asset_id":84996576,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/89833706/download_file?st=MTczMjgxNjQyNCw4LjIyMi4yMDguMTQ2&st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="84996576"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="84996576"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 84996576; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=84996576]").text(description); $(".js-view-count[data-work-id=84996576]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 84996576; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='84996576']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 84996576, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "e78ae600e8a73fe33d4c62a0230a87ea" } } $('.js-work-strip[data-work-id=84996576]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":84996576,"title":"CSF Heavy Neurofilament May Discriminate and Predict Motor Neuron Diseases with Upper Motor Neuron Involvement","translated_title":"","metadata":{"abstract":"Objective: To assess whether phosphorylated neurofilament heavy chain (pNfH) can discriminate different upper motor neuron (UMN) syndromes, namely, ALS, UMN-predominant ALS, primary lateral sclerosis (PLS) and hereditary spastic paraparesis (hSP) and to test the prognostic value of pNfH in UMN diseases. Methods: CSF and serum pNfH were measured in 143 patients presenting with signs of UMN and later diagnosed with classic/bulbar ALS, UMNp-ALS, hSP, and PLS. Between-group comparisons were drawn by ANOVA and receiver operating characteristic (ROC) analysis was performed. The prognostic value of pNfH was tested by the Cox regression model. Results: ALS and UMNp-ALS patients had higher CSF pNfH compared to PLS and hSP (p \u0026lt; 0.001). ROC analysis showed that CSF pNfH could differentiate ALS, UMNp-ALS included, from PLS and hSP (AUC = 0.75 and 0.95, respectively), while serum did not perform as well. In multivariable survival analysis among the totality of UMN patients and classic/bulbar ...","publisher":"MDPI AG","publication_date":{"day":null,"month":null,"year":2021,"errors":{}},"publication_name":"Biomedicines"},"translated_abstract":"Objective: To assess whether phosphorylated neurofilament heavy chain (pNfH) can discriminate different upper motor neuron (UMN) syndromes, namely, ALS, UMN-predominant ALS, primary lateral sclerosis (PLS) and hereditary spastic paraparesis (hSP) and to test the prognostic value of pNfH in UMN diseases. Methods: CSF and serum pNfH were measured in 143 patients presenting with signs of UMN and later diagnosed with classic/bulbar ALS, UMNp-ALS, hSP, and PLS. Between-group comparisons were drawn by ANOVA and receiver operating characteristic (ROC) analysis was performed. The prognostic value of pNfH was tested by the Cox regression model. Results: ALS and UMNp-ALS patients had higher CSF pNfH compared to PLS and hSP (p \u0026lt; 0.001). ROC analysis showed that CSF pNfH could differentiate ALS, UMNp-ALS included, from PLS and hSP (AUC = 0.75 and 0.95, respectively), while serum did not perform as well. 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="84996572"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/84996572/Presynaptic_Paraneoplastic_Disorders_of_the_Neuromuscular_Junction_An_Update"><img alt="Research paper thumbnail of Presynaptic Paraneoplastic Disorders of the Neuromuscular Junction: An Update" class="work-thumbnail" src="https://attachments.academia-assets.com/89833703/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/84996572/Presynaptic_Paraneoplastic_Disorders_of_the_Neuromuscular_Junction_An_Update">Presynaptic Paraneoplastic Disorders of the Neuromuscular Junction: An Update</a></div><div class="wp-workCard_item"><span>Brain Sciences</span><span>, 2021</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">The neuromuscular junction (NMJ) is the target of a variety of immune-mediated disorders, usually...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">The neuromuscular junction (NMJ) is the target of a variety of immune-mediated disorders, usually classified as presynaptic and postsynaptic, according to the site of the antigenic target and consequently of the neuromuscular transmission alteration. Although less common than the classical autoimmune postsynaptic myasthenia gravis, presynaptic disorders are important to recognize due to the frequent association with cancer. Lambert Eaton myasthenic syndrome is due to a presynaptic failure to release acetylcholine, caused by antibodies to the presynaptic voltage-gated calcium channels. Acquired neuromyotonia is a condition characterized by nerve hyperexcitability often due to the presence of antibodies against proteins associated with voltage-gated potassium channels. This review will focus on the recent developments in the autoimmune presynaptic disorders of the NMJ.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="519fad8b1ff8bdb14abbb4dfef51bae2" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":89833703,"asset_id":84996572,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/89833703/download_file?st=MTczMjgxNjQyNCw4LjIyMi4yMDguMTQ2&st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="84996572"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="84996572"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 84996572; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=84996572]").text(description); $(".js-view-count[data-work-id=84996572]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 84996572; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='84996572']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 84996572, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "519fad8b1ff8bdb14abbb4dfef51bae2" } } $('.js-work-strip[data-work-id=84996572]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":84996572,"title":"Presynaptic Paraneoplastic Disorders of the Neuromuscular Junction: An Update","translated_title":"","metadata":{"abstract":"The neuromuscular junction (NMJ) is the target of a variety of immune-mediated disorders, usually classified as presynaptic and postsynaptic, according to the site of the antigenic target and consequently of the neuromuscular transmission alteration. 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Acquired neuromyotonia is a condition characterized by nerve hyperexcitability often due to the presence of antibodies against proteins associated with voltage-gated potassium channels. 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="84996567"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/84996567/In_Vivo_Diagnosis_of_Synucleinopathies"><img alt="Research paper thumbnail of In Vivo Diagnosis of Synucleinopathies" class="work-thumbnail" src="https://attachments.academia-assets.com/89833754/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/84996567/In_Vivo_Diagnosis_of_Synucleinopathies">In Vivo Diagnosis of Synucleinopathies</a></div><div class="wp-workCard_item"><span>Neurology</span><span>, 2021</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">ObjectiveTo determine whether (1) immunofluorescence is a reproducible technique in detecting mis...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">ObjectiveTo determine whether (1) immunofluorescence is a reproducible technique in detecting misfolded α-synuclein in skin nerves and subsequently whether (2) immunofluorescence and real-time quaking-induced conversion (RT-QuIC) (both in skin and CSF) show a comparable in vivo diagnostic accuracy in distinguishing synucleinopathies from non-synucleinopathies in a large cohort of patients.MethodsWe prospectively recruited 90 patients fulfilling clinical and instrumental diagnostic criteria for all synucleinopathies variants and non-synucleinopathies (mainly including Alzheimer disease, tauopathies, and vascular parkinsonism or dementia). Twenty-four patients with mainly peripheral neuropathies were used as controls. Patients underwent skin biopsy for immunofluorescence and RT-QuIC; CSF was examined in patients who underwent lumbar puncture for diagnostic purposes. Immunofluorescence and RT-QuIC analysis were made blinded to the clinical diagnosis.ResultsImmunofluorescence showed rep...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="60ec847599a136804ebe6fa4d6427a70" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":89833754,"asset_id":84996567,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/89833754/download_file?st=MTczMjgxNjQyNCw4LjIyMi4yMDguMTQ2&st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="84996567"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="84996567"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 84996567; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=84996567]").text(description); $(".js-view-count[data-work-id=84996567]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 84996567; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='84996567']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 84996567, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "60ec847599a136804ebe6fa4d6427a70" } } $('.js-work-strip[data-work-id=84996567]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":84996567,"title":"In Vivo Diagnosis of Synucleinopathies","translated_title":"","metadata":{"abstract":"ObjectiveTo determine whether (1) immunofluorescence is a reproducible technique in detecting misfolded α-synuclein in skin nerves and subsequently whether (2) immunofluorescence and real-time quaking-induced conversion (RT-QuIC) (both in skin and CSF) show a comparable in vivo diagnostic accuracy in distinguishing synucleinopathies from non-synucleinopathies in a large cohort of patients.MethodsWe prospectively recruited 90 patients fulfilling clinical and instrumental diagnostic criteria for all synucleinopathies variants and non-synucleinopathies (mainly including Alzheimer disease, tauopathies, and vascular parkinsonism or dementia). Twenty-four patients with mainly peripheral neuropathies were used as controls. Patients underwent skin biopsy for immunofluorescence and RT-QuIC; CSF was examined in patients who underwent lumbar puncture for diagnostic purposes. Immunofluorescence and RT-QuIC analysis were made blinded to the clinical diagnosis.ResultsImmunofluorescence showed rep...","publisher":"Ovid Technologies (Wolters Kluwer Health)","publication_date":{"day":null,"month":null,"year":2021,"errors":{}},"publication_name":"Neurology"},"translated_abstract":"ObjectiveTo determine whether (1) immunofluorescence is a reproducible technique in detecting misfolded α-synuclein in skin nerves and subsequently whether (2) immunofluorescence and real-time quaking-induced conversion (RT-QuIC) (both in skin and CSF) show a comparable in vivo diagnostic accuracy in distinguishing synucleinopathies from non-synucleinopathies in a large cohort of patients.MethodsWe prospectively recruited 90 patients fulfilling clinical and instrumental diagnostic criteria for all synucleinopathies variants and non-synucleinopathies (mainly including Alzheimer disease, tauopathies, and vascular parkinsonism or dementia). Twenty-four patients with mainly peripheral neuropathies were used as controls. Patients underwent skin biopsy for immunofluorescence and RT-QuIC; CSF was examined in patients who underwent lumbar puncture for diagnostic purposes. Immunofluorescence and RT-QuIC analysis were made blinded to the clinical diagnosis.ResultsImmunofluorescence showed rep...","internal_url":"https://www.academia.edu/84996567/In_Vivo_Diagnosis_of_Synucleinopathies","translated_internal_url":"","created_at":"2022-08-17T11:02:27.209-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37515190,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":89833754,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/89833754/thumbnails/1.jpg","file_name":"e2513.full.pdf","download_url":"https://www.academia.edu/attachments/89833754/download_file?st=MTczMjgxNjQyNCw4LjIyMi4yMDguMTQ2&st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"In_Vivo_Diagnosis_of_Synucleinopathies.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/89833754/e2513.full-libre.pdf?1660760440=\u0026response-content-disposition=attachment%3B+filename%3DIn_Vivo_Diagnosis_of_Synucleinopathies.pdf\u0026Expires=1732820023\u0026Signature=NvsyvwJ03sncQNSzejOi~FZzz~7CITs7IVmr94R6~ZNetXxKYNk5zDL-ISuRn4s7QcYGi7k7E71m0Uh7TkIj9at4C6L3Zx3zAa5bBaPcIG~8xR-ammJzT2rSsZLsM33ZN--49sPa8Pt8Sd2zvUY8GbUXH4mkQORjgvQjjXLkZ9~s06-07NllUKXvzEVJxniKwc-ezfJVzC19d~zYQvi3B7cPPJMRxWlxOHGFJTcBAA7SNfTkKckBjazkwndehIythpSWNa5-lJmVeWTBE80IxTL4kAHBAy~6j4alnXoK1tquSprfdD8u3oMbgZxYT1OmdKSaG9AGF0sbi6OaUvf6CQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"In_Vivo_Diagnosis_of_Synucleinopathies","translated_slug":"","page_count":13,"language":"en","content_type":"Work","owner":{"id":37515190,"first_name":"Rocco","middle_initials":null,"last_name":"Liguori","page_name":"RoccoLiguori","domain_name":"independent","created_at":"2015-11-02T22:11:11.958-08:00","display_name":"Rocco Liguori","url":"https://independent.academia.edu/RoccoLiguori"},"attachments":[{"id":89833754,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/89833754/thumbnails/1.jpg","file_name":"e2513.full.pdf","download_url":"https://www.academia.edu/attachments/89833754/download_file?st=MTczMjgxNjQyNCw4LjIyMi4yMDguMTQ2&st=MTczMjgxNjQyMyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"In_Vivo_Diagnosis_of_Synucleinopathies.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/89833754/e2513.full-libre.pdf?1660760440=\u0026response-content-disposition=attachment%3B+filename%3DIn_Vivo_Diagnosis_of_Synucleinopathies.pdf\u0026Expires=1732820023\u0026Signature=NvsyvwJ03sncQNSzejOi~FZzz~7CITs7IVmr94R6~ZNetXxKYNk5zDL-ISuRn4s7QcYGi7k7E71m0Uh7TkIj9at4C6L3Zx3zAa5bBaPcIG~8xR-ammJzT2rSsZLsM33ZN--49sPa8Pt8Sd2zvUY8GbUXH4mkQORjgvQjjXLkZ9~s06-07NllUKXvzEVJxniKwc-ezfJVzC19d~zYQvi3B7cPPJMRxWlxOHGFJTcBAA7SNfTkKckBjazkwndehIythpSWNa5-lJmVeWTBE80IxTL4kAHBAy~6j4alnXoK1tquSprfdD8u3oMbgZxYT1OmdKSaG9AGF0sbi6OaUvf6CQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":237,"name":"Cognitive Science","url":"https://www.academia.edu/Documents/in/Cognitive_Science"},{"id":623,"name":"Neurology","url":"https://www.academia.edu/Documents/in/Neurology"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":1239755,"name":"Neurosciences","url":"https://www.academia.edu/Documents/in/Neurosciences"}],"urls":[{"id":23050644,"url":"https://syndication.highwire.org/content/doi/10.1212/WNL.0000000000011935"}]}, dispatcherData: dispatcherData }); 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