Zoeken
Effect of Propofol and Sevoflurane on Vanishing White Matter Models
June 2025
Oudejans E, Witkamp D, Schonewille P, Adelman MR, Hu-A-Ng GV, Hoogterp L, van Rooijen-van Leeuwen G, van der Laan R, Kerindongo RP, Witvliet JJ, Weber NC, Preckel B, Abbink TEM, van der Knaap MS.
Effect of Propofol and Sevoflurane on Vanishing White Matter Models. Pediatr Neurol. 2025 Jun;167:66-76. doi: 10.1016/j.pediatrneurol.2025.03.009. Epub 2025 Mar 24. PMID: 40215832.
Patient management card VWM
November, 2025
van Voorst RJ, Schoenmakers DH, Bonkowsky JL, Vanderver A, Krägeloh-Mann I, Bernard G, Bertini E, Fatemi A, Sgobbi PV, Wolf NI, Groeschel S, Tonduti D, Sevin C, Orthmann-Murphy JL, Schöls L, Salsano E, Brais B, Jaffe N, Ter Horst KW, Hannema SE, Hayes KG, Meyburg J, van Heerde M, Sbrocchi AM, van Spaendonk R, Thiffault I, Hofsteenge GH, Sudmeier-Broek C, Timmer C, Skwirut D, Buck A, Hollberg B, Chapleau R, Dekker H, Campbell SG, Abbink TEM, Leferink PS, van der Knaap MS.
Patient management card VWM. Neurology. 2025 Dec 9;105(11):e214320. doi: 10.1212/WNL.0000000000214320. Epub 2025 Nov 13. PMID: 41232062; PMCID: PMC12615013.
Consensus-based expert recommendations for diagnosis and clinical management of VWM
November, 2025
van Voorst RJ, Schoenmakers DH, Bonkowsky JL, Vanderver A, Krägeloh-Mann I, Bernard G, Bertini E, Fatemi A, Sgobbi PV, Wolf NI, Groeschel S, Tonduti D, Sevin C, Orthmann-Murphy JL, Schöls L, Salsano E, Brais B, Jaffe N, Ter Horst KW, Hannema SE, Hayes KG, Meyburg J, van Heerde M, Sbrocchi AM, van Spaendonk R, Thiffault I, Hofsteenge GH, Sudmeier-Broek C, Timmer C, Skwirut D, Buck A, Hollberg B, Chapleau R, Dekker H, Campbell SG, Abbink TEM, Leferink PS, van der Knaap MS.
Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter. Neurology. 2025 Dec 9;105(11):e214320. doi: 10.1212/WNL.0000000000214320. Epub 2025 Nov 13. PMID: 41232062; PMCID: PMC12615013.
The impact of vanishing white matter on unaffected family members
August, 2025
Romy J. van Voorst, Daphne H. Schoenmakers, Irene van Beelen, Francesco Gavazzi, Alexandra Chapleau, Adeline Vanderver, Geneviève Bernard, Ingeborg Krägeloh-Mann & Marjo S. van der Knaap
Orphanet J Rare Dis 20, 456 (2025). https://doi.org/10.1186/s13023-025-03987-8
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
August, 2023
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
BMC Neurol 23, 305 (2023). https://doi.org/10.1186/s12883-023-03354-9
Therapy Trial Design in Vanishing White Matter - An Expert Consortium Opinion
April, 2022
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
Neurol Genet Apr 2022, 8 (2) e657; DOI: 10.1212/NXG.0000000000000657
Cell Replacement Therapy Improves Pathological Hallmarks in a Mouse Model of Leukodystrophy Vanishing White Matter
March 5, 2019
Dooves S, Leferink PS, Krabbenborg S, Breeuwsma N, Bots S, Hillen AEJ, Jacobs G, van der Knaap MS, Heine VM.
Stem Cell Reports; 12(3):441-450. doi: 10.1016/j.stemcr.2019.01.018. Epub 2019 Feb 21. PMID: 30799272; PMCID: PMC6411482.
Bergmann glia translocation: a new disease marker for vanishing white matter identifies therapeutic effects of Guanabenz treatment
June 2018
Dooves S, Bugiani M, Wisse LE, Abbink TEM, van der Knaap MS, Heine VM.
Neuropathol Appl Neurobiol; 44(4):391-403. doi: 10.1111/nan.12411. Epub 2017 Aug 1. PMID: 28953319.
eIF2B activator prevents neurological defects caused by a chronic integrated stress response
January 9, 2019
Wong YL, LeBon L, Basso AM, Kohlhaas KL, Nikkel AL, Robb HM, Donnelly-Roberts DL, Prakash J, Swensen AM, Rubinstein ND, Krishnan S, McAllister FE, Haste NV, O'Brien JJ, Roy M, Ireland A, Frost JM, Shi L, Riedmaier S, Martin K, Dart MJ, Sidrauski C.
8:e42940. doi: 10.7554/eLife.42940. PMID: 30624206; PMCID: PMC6326728.
The small molecule ISRIB rescues the stability and activity of Vanishing White Matter Disease eIF2B mutant complexes
February 28, 2018
Wong YL, LeBon L, Edalji R, Lim HB, Sun C, Sidrauski C.
7:e32733. doi: 10.7554/eLife.32733. PMID: 29489452; PMCID: PMC5829914.