Natural History of Vanishing White Matter

Autor: Hamilton, E. M. C., van der Lei, H. D. W., Vermeulen, G., Gerver, J. A. M., Lourenco, C. M., Naidu, S., Mierzewska, H., Gemke, R. J. B. J., de Vet, H. C. W., Uitdehaag, B. M. J., Lissenberg-Witte, B. I., Research Group, V. W. M., van der Knaap, M. S., Ferlini, A.

Publikováno v: Annals of Neurology, 84(2), 274-288. John Wiley and Sons Inc.
Annals of Neurology, Vol. 84, No 2 (2018) pp. 274-288
Hamilton, E M C, van der Lei, H D W, Vermeulen, G, Gerver, J A M, Lourenço, C M, Naidu, S, Mierzewska, H, Gemke, R J B J, de Vet, H C W, Uitdehaag, B M J, Lissenberg-Witte, B I, Research Group, V W M & van der Knaap, M S 2018, ' Natural History of Vanishing White Matter ', Annals of Neurology, vol. 84, no. 2, pp. 274-288 . https://doi.org/10.1002/ana.25287
Hamilton, E M C, van der Lei, H D W, Vermeulen, G, Gerver, J A M, Lourenço, C M, Naidu, S, Mierzewska, H, Gemke, R J B J, de Vet, H C W, Uitdehaag, B M J, Lissenberg-Witte, B I, van der Knaap, M S, VWM Research Group & Østergaard, J R 2018, ' Natural History of Vanishing White Matter ', Annals of Neurology, vol. 84, no. 2, pp. 274-288 . https://doi.org/10.1002/ana.25287
Annals of Neurology

OBJECTIVE: To comprehensively describe the natural history of vanishing white matter (VWM), aiming at improving counseling of patients/families and providing natural history data for future therapeutic trials.METHODS: We performed a longitudinal mult

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https://doi.org/10.1002/ana.25287

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Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases

Autor: Mierzewska, H., Knaap, M. S., Scheper, G. C., Elzbieta Jurkiewicz, Schmidt-Sidor, B., Szymańska, K.

Publikováno v: Mierzewska, H, van der Knaap, M S, Scheper, G C, Jurkiewicz, E, Schmidt-Sidor, B & Szymańska, K 2006, ' Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases ', Folia Neuropathologica, vol. 44, no. 2, pp. 144-148 .
Scopus-Elsevier
Folia Neuropathologica, 44(2), 144-148. Termedia Publishing House Ltd.

Leukoencephalopathy with vanishing white matter (VWM), also called childhood ataxia with central nervous system hypomyelination (CACH), is an autosomal recessive disease caused by mutations in any of the five genes encoding subunits of the eukaryotic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::73c1431c98448327bb9f12704b9a705a
https://research.vumc.nl/en/publications/6cbd66e0-ad4e-4879-8f43-8cfe76bd2944