학술논문
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.
Document Type
Article
Author
Dohrn, Maike F.; Beijer, Danique; Lone, Museer A.; Bayraktar, Elif; Oflazer, Piraye; Orbach, Rotem; Donkervoort, Sandra; Foley, A. Reghan; Rose, Aubrey; Lyons, Michael; Louie, Raymond J.; Gable, Kenneth; Dunn, Teresa; Sitong Chen; Danzi, Matt C.; Synofzik, Matthis; Bönnemann, Carsten G.; Başak, A. Nazlı; Hornemann, Thorsten; Zuchner, Stephan
Source
Journal of Neurology, Neurosurgery & Psychiatry; Mar2024, Vol. 95 Issue 3, p201-205, 5p
Subject
Language
ISSN
00223050
Abstract
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