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Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis
Document Type
Article
Author
Dohrn, M.F.; Beijer, D.; Chen, S.; Danzi, M.C.; Zuchner, S.; Synofzik, M.; Lone, M.A.; Hornemann, T.; Bayraktar, E.; Nazll Başak, A.; Oflazer, P.; Orbach, R.; Donkervoort, S.; Foley, A.R.; Bönnemann, C.G.; Rose, A.; Lyons, M.; Louie, R.J.; Gable, K.; Dunn, T.
Source
In: Journal of Neurology, Neurosurgery and Psychiatry. (Journal of Neurology, Neurosurgery and Psychiatry, 24 November 2023, 95(3):201-205)
Subject
Language
English
ISSN
1468330X
00223050

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