학술논문
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis
Document Type
Article
Author
Syeda, S.B.; Mohassel, P.; Donkervoort, S.; Foley, A.R.; Bönnemann, C.G.; Lone, M.A.; Hornemann, T.; Munot, P.; Muntoni, F.; França, M.C.; Galarza-Brito, J.E.; Eckenweiler, M.; Kirschner, J.; Asamoah, A.; Lakhotia, A.; Jackson, K.E.; Gable, K.; Gupta, S.D.; Majumdar, A.; Schumann, A.; Shieh, P.B.; Chao, K.R.; Winder, T.L.; Catapano, F.; Feng, L.; Dunn, T.M.
Source
In: Journal of Neurology, Neurosurgery and Psychiatry . (Journal of Neurology, Neurosurgery and Psychiatry, 24 November 2023, 95(2):103-113)
Subject
Language
English
ISSN
1468330X
00223050
00223050