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aria-current="page">All</a></li> <li id="menu-item-707" class="menu-item menu-item-type-taxonomy menu-item-object-publication_category menu-item-707"><a href="https://www.vwmconsortium.org/publication_category/clinical/">Clinical</a></li> <li id="menu-item-708" class="menu-item menu-item-type-taxonomy menu-item-object-publication_category menu-item-708"><a href="https://www.vwmconsortium.org/publication_category/laboratory-research/">Laboratory Research</a></li> <li id="menu-item-709" class="menu-item menu-item-type-taxonomy menu-item-object-publication_category menu-item-709"><a href="https://www.vwmconsortium.org/publication_category/reviews/">Reviews</a></li> <li id="menu-item-710" class="menu-item menu-item-type-taxonomy menu-item-object-publication_category menu-item-710"><a href="https://www.vwmconsortium.org/publication_category/therapy/">Therapy</a></li> </ul> </div> </div> </div> <div class="row justify-content-center"> <div class="col-12 col-md-10 col-lg-8 mb-m"> <a href="https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-023-03354-9" class="card card-archive card-publication" target="_blank"> <div class="card-publication__content bg--white"> <div class="card-archive__title card-publication__title">Core protocol development for phase 2/3 clinical trials in the leukodystrophy Vanishing White Matter: a consensus statement by the VWM consortium and patient advocates</div> <div class="card-publication__meta"> <div class="card-publication__date">August, 2023</div> <div class="card-publication__name">Daphne H. Schoenmakers, Prisca S. Leferink, Adeline Vanderver, Joshua L. Bonkowsky, Ingeborg Krägeloh-Mann, Geneviève Bernard, Enrico Bertini, Ali Fatemi, Brent L. Fogel, Nicole I. Wolf, Donna Skwirut, Allyson Buck, Brett Holberg, Elise F. Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Menno D. Stellingwerff, Johannes Berkhof & Marjo S. van der Knaap </div> </div> <div class="card-archive__text card-publication__text">BMC Neurol 23, 305 (2023). https://doi.org/10.1186/s12883-023-03354-9</div> </div> </a> <a href="https://ng.neurology.org/content/8/2/e657" class="card card-archive card-publication" target="_blank"> <div class="card-publication__content bg--white"> <div class="card-archive__title card-publication__title">Therapy Trial Design in Vanishing White Matter - An Expert Consortium Opinion</div> <div class="card-publication__meta"> <div class="card-publication__date">April, 2022</div> <div class="card-publication__name">Marjo S. van der Knaap, Joshua L. Bonkowsky, Adeline Vanderver, Raphael Schiffmann, Ingeborg Krägeloh-Mann, Enrico Bertini, Genevieve Bernard, Seyed Ali Fatemi, Nicole I. Wolf, Elise Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Peter van de Ven, Prisca S. Leferink</div> </div> <div class="card-archive__text card-publication__text">Neurol Genet Apr 2022, 8 (2) e657; DOI: 10.1212/NXG.0000000000000657</div> </div> </a> <a href="https://pubmed.ncbi.nlm.nih.gov/20301435/" class="card card-archive card-publication" target="_blank"> <div class="card-publication__content bg--white"> <div class="card-archive__title card-publication__title">Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter</div> <div class="card-publication__meta"> <div class="card-publication__date">February 2003</div> <div class="card-publication__name">van der Knaap MS, Fogli A, Boespflug-Tanguy O, Abbink TEM, Schiffmann R.</div> </div> <div class="card-archive__text card-publication__text">GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. PMID: 20301435 Bookshelf ID: NBK1258</div> </div> </a> <a href="https://pubmed.ncbi.nlm.nih.gov/33300869/" class="card card-archive card-publication" target="_blank"> <div class="card-publication__content bg--white"> <div class="card-archive__title card-publication__title">Vanishing white matter disease expression of truncated EIF2B5 activates induced stress response.</div> <div class="card-publication__meta"> <div class="card-publication__date">December 2020</div> <div class="card-publication__name">Keefe MD, Soderholm HE, Shih HY, Stevenson TJ, Glaittli KA, Bowles DM, Scholl E, Colby S, Merchant S, Hsu EW, Bonkowsky JL. </div> </div> <div class="card-archive__text card-publication__text">Elife. 2020 Dec 10;9:e56319. doi: 10.7554/eLife.56319. PMID: 33300869; PMCID: PMC7752137.</div> </div> </a> <a href="https://pubmed.ncbi.nlm.nih.gov/33432707/" class="card card-archive card-publication" target="_blank"> <div class="card-publication__content bg--white"> <div class="card-archive__title card-publication__title">Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations</div> <div class="card-publication__meta"> <div class="card-publication__date">March, 2021</div> <div class="card-publication__name">Slynko I, Nguyen S, Hamilton EMC, Wisse LE, de Esch IJP, de Graaf C, Bruning JB, Proud CG, Abbink TEM, van der Knaap MS</div> </div> <div class="card-archive__text card-publication__text">Mol Genet Genomic Med; 9(3):e1593. doi: 10.1002/mgg3.1593. Epub 2021 Jan 12.</div> </div> </a> <a href="https://pubmed.ncbi.nlm.nih.gov/30720246/" class="card card-archive card-publication" target="_blank"> <div class="card-publication__content bg--white"> <div class="card-archive__title card-publication__title">Modeling vanishing white matter disease with patient-derived induced pluripotent stem cells reveals astrocytic dysfunction</div> <div class="card-publication__meta"> <div class="card-publication__date">June, 2019</div> <div class="card-publication__name">Zhou L, Li P, Chen N, Dai LF, Gao K, Liu YN, Shen L, Wang JM, Jiang YW, Wu Y</div> </div> <div class="card-archive__text card-publication__text">CNS Neurosci Ther; 25(6):759-771. doi: 10.1111/cns.13107. Epub 2019 Feb 5. PMID: 30720246; PMCID: PMC6515702.</div> </div> </a> <a href="https://pubmed.ncbi.nlm.nih.gov/31433864/" class="card card-archive card-publication" target="_blank"> <div class="card-publication__content bg--white"> <div class="card-archive__title card-publication__title">Astrocyte Subtype Vulnerability in Stem Cell Models of Vanishing White Matter</div> <div class="card-publication__meta"> <div class="card-publication__date">November, 2019</div> <div class="card-publication__name">Leferink PS, Dooves S, Hillen AEJ, Watanabe K, Jacobs G, Gasparotto L, Cornelissen-Steijger P, van der Knaap MS, Heine VM</div> </div> <div class="card-archive__text card-publication__text">Ann Neurol; 86(5):780-792. doi: 10.1002/ana.25585. Epub 2019 Sep 10. PMID: 31433864; PMCID: PMC6856690.</div> </div> </a> <a href="https://pubmed.ncbi.nlm.nih.gov/29285798/" class="card card-archive card-publication" target="_blank"> <div class="card-publication__content bg--white"> <div class="card-archive__title card-publication__title">Affected astrocytes in the spinal cord of the leukodystrophy vanishing white matter</div> <div class="card-publication__meta"> <div class="card-publication__date">April, 2018</div> <div class="card-publication__name">Leferink PS, Breeuwsma N, Bugiani M, van der Knaap MS, Heine VM</div> </div> <div class="card-archive__text card-publication__text">Glia; 66(4):862-873. doi: 10.1002/glia.23289. Epub 2017 Dec 29. PMID: 29285798; PMCID: PMC5838785.</div> </div> </a> <a href="https://pubmed.ncbi.nlm.nih.gov/26974157/" class="card card-archive card-publication" target="_blank"> <div class="card-publication__content bg--white"> <div class="card-archive__title card-publication__title">Astrocytes are central in the pathomechanisms of vanishing white matter</div> <div class="card-publication__meta"> <div class="card-publication__date">April 1, 2016</div> <div class="card-publication__name">Dooves S, Bugiani M, Postma NL, Polder E, Land N, Horan ST, van Deijk AL, van de Kreeke A, Jacobs G, Vuong C, Klooster J, Kamermans M, Wortel J, Loos M, Wisse LE, Scheper GC, Abbink TE, Heine VM, van der Knaap MS</div> </div> <div class="card-archive__text card-publication__text">J Clin Invest; 126(4):1512-24. doi: 10.1172/JCI83908. Epub 2016 Mar 14. PMID: 26974157; PMCID: PMC4811153.</div> </div> </a> <a href="https://pubmed.ncbi.nlm.nih.gov/20838246/" class="card card-archive card-publication" target="_blank"> <div class="card-publication__content bg--white"> <div class="card-archive__title card-publication__title">Leukoencephalopathy with vanishing white matter: a review</div> <div class="card-publication__meta"> <div class="card-publication__date">October, 2010</div> <div class="card-publication__name">Bugiani M, Boor I, Powers JM, Scheper GC, van der Knaap MS</div> </div> <div class="card-archive__text card-publication__text">J Neuropathol Exp Neurol; 69(10):987-96. doi: 10.1097/NEN.0b013e3181f2eafa. PMID: 20838246.</div> </div> </a> </div> </div> <div class="row justify-content-center"> <div class="col-12 col-md-10 col-lg-8 mb-m"> <nav class='pagination'><span aria-current="page" class="page-numbers current">1</span> <a class="page-numbers" href="https://www.vwmconsortium.org/publications/page/2/">2</a> <a class="next page-numbers" href="https://www.vwmconsortium.org/publications/page/2/">»</a></nav> </div> </div> </div> </div> </main> <footer class="footer p-l"> <div class="container"> <div class="row"> <div class="col-12 col-sm-6 footer__logo__text"> <div class="footer__logo__img"></div> <p>The Vanishing White Matter consortium consists of 9 (pediatric) neurologists from 8 academic medical centers worldwide, all involved in leukodystrophy patient care and research. The consortium started in 2019 to work on the overarching mission: enabling and accelerating therapeutics for Vanishing White Matter, accessible and affordable for all patients. To help us achieve our mission we interact with various partners, including patient / family / caregiver foundations, (medical) specialists, academic institutes, and biotech and pharma companies.</p> </div> <div class="col-12 col-sm-6 footer__registry"> <div class="footer__registry__content"> <h3 class="footer__registry__titel">VWM patient registry</h3> <div class="footer__registry__text"> <p>The Amsterdam Leukodystrophy Center has developed an online global registry for patients with Vanishing White Matter (VWM). The purpose of the registry is to gain as much insight as possible into the course of the disease, both in terms of clinical features and MRI. This database will play an important role in developing treatment strategies and making decisions about therapeutic trials. Information is needed about as many patients as possible.</p> </div> <a href="https://www.vwmconsortium.org/register-as-vanishing-white-matter-patient/" class="footer__registry__button btn btn--green">Register</a> </div> </div> </div> <div class="row footer__bar justify-content-between"> <div class="col-12 footer__bar-col"> <div class="footer__copyright"> <div class="footer__bar-links">© 2025 <p>Amsterdam UMC • <a href="https://www.amsterdamumc.org/research/disclaimer.htm" target="_blank" rel="noopener">Disclaimer</a> • <a href="https://www.amsterdamumc.org/research/general-privacy-statement.htm" target="_blank" rel="noopener">Privacy Policy</a></p> </div> </div> <a href="https://www.stoerebinken.nl/" class="footer__made-by" target="_blank">Website: Stoere Binken</a> </div> </div> </div> </footer> <script type="text/javascript" src="https://unpkg.com/aos@next/dist/aos.js?ver=6.7.2" id="aos-js"></script> <script type="text/javascript" src="https://www.vwmconsortium.org/wp-includes/js/imagesloaded.min.js?ver=5.0.0" id="imagesloaded-js"></script> <script type="text/javascript" src="https://www.vwmconsortium.org/wp-includes/js/masonry.min.js?ver=4.2.2" id="masonry-js"></script> </body> </html>