Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-022-06011-0.pdf
Reference53 articles.
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2. Scali O, Di Perri C, Federico A (2006) The spectrum of mutations for the diagnosis of vanishing white matter disease. Neurol Sci 27:271–277
3. Bugiani M, Vuong C, Breur M, van der Knaap MS (2018) Vanishing white matter: a leukodystrophy due to astrocytic dysfunction. Brain Pathol 28:408–421
4. Keefe MD, Soderholm HE, Shih HY, Stevenson TJ, Glaittli KA, Bowles DM, Scholl E, Colby S, Merchant S, Hsu EW, Bonkowsky JL (2020) Vanishing white matter disease expression of truncated EIF2B5 activates induced stress response. Elife 10(9):e56319
5. Leferink PS, Breeuwsma N, Bugiani M, van der Knaap MS, Heine VM (2018) Affected astrocytes in the spinal cord of the leukodystrophy vanishing white matter. Glia 66:862–873
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1. Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients;Journal of Neurology;2023-05-12
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