Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis
Maike F Dohrn, Danique Beijer, Museer A Lone, Elif Bayraktar, Piraye Oflazer, Rotem Orbach, Sandra Donkervoort, A Reghan Foley, Aubrey Rose, Michael Lyons, Raymond J Louie, Kenneth Gable, Teresa Dunn, Sitong Chen, Matt C Danzi, Matthis Synofzik, Carsten G Bönnemann, A Nazlı Başak, Thorsten Hornemann, Stephan Zuchner
Journal of Neurology, Neurosurgery & Psychiatry Mar 2024, 95 (3) 201-205; DOI: 10.1136/jnnp-2023-332130