Zoeken
Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter
February 2003
van der Knaap MS, Fogli A, Boespflug-Tanguy O, Abbink TEM, Schiffmann R.
GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. PMID: 20301435 Bookshelf ID: NBK1258
Vanishing white matter disease expression of truncated EIF2B5 activates induced stress response.
December 2020
Keefe MD, Soderholm HE, Shih HY, Stevenson TJ, Glaittli KA, Bowles DM, Scholl E, Colby S, Merchant S, Hsu EW, Bonkowsky JL.
Elife. 2020 Dec 10;9:e56319. doi: 10.7554/eLife.56319. PMID: 33300869; PMCID: PMC7752137.
Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations
March, 2021
Slynko I, Nguyen S, Hamilton EMC, Wisse LE, de Esch IJP, de Graaf C, Bruning JB, Proud CG, Abbink TEM, van der Knaap MS
Mol Genet Genomic Med; 9(3):e1593. doi: 10.1002/mgg3.1593. Epub 2021 Jan 12.
Modeling vanishing white matter disease with patient-derived induced pluripotent stem cells reveals astrocytic dysfunction
June, 2019
Zhou L, Li P, Chen N, Dai LF, Gao K, Liu YN, Shen L, Wang JM, Jiang YW, Wu Y
CNS Neurosci Ther; 25(6):759-771. doi: 10.1111/cns.13107. Epub 2019 Feb 5. PMID: 30720246; PMCID: PMC6515702.
Astrocyte Subtype Vulnerability in Stem Cell Models of Vanishing White Matter
November, 2019
Leferink PS, Dooves S, Hillen AEJ, Watanabe K, Jacobs G, Gasparotto L, Cornelissen-Steijger P, van der Knaap MS, Heine VM
Ann Neurol; 86(5):780-792. doi: 10.1002/ana.25585. Epub 2019 Sep 10. PMID: 31433864; PMCID: PMC6856690.
Affected astrocytes in the spinal cord of the leukodystrophy vanishing white matter
April, 2018
Leferink PS, Breeuwsma N, Bugiani M, van der Knaap MS, Heine VM
Glia; 66(4):862-873. doi: 10.1002/glia.23289. Epub 2017 Dec 29. PMID: 29285798; PMCID: PMC5838785.
Astrocytes are central in the pathomechanisms of vanishing white matter
April 1, 2016
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
J Clin Invest; 126(4):1512-24. doi: 10.1172/JCI83908. Epub 2016 Mar 14. PMID: 26974157; PMCID: PMC4811153.
Leukoencephalopathy with vanishing white matter: a review
October, 2010
Bugiani M, Boor I, Powers JM, Scheper GC, van der Knaap MS
J Neuropathol Exp Neurol; 69(10):987-96. doi: 10.1097/NEN.0b013e3181f2eafa. PMID: 20838246.
Natural History of Vanishing White Matter
August 2018
Hamilton EMC, van der Lei HDW, Vermeulen G, Gerver JAM, Lourenço CM, Naidu S, Mierzewska H, Gemke RJBJ, de Vet HCW, Uitdehaag BMJ, Lissenberg-Witte BI; VWM Research Group, van der Knaap MS
Ann Neurol; 84(2):274-288. doi: 10.1002/ana.25287. Epub 2018 Sep 6. PMID: 30014503; PMCID: PMC6175238.
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.