Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis
复发性新生SPTLC2变异通过鞘脂合成过多导致儿童期发病的肌萎缩侧索硬化症(ALS)。
期刊:Journal of Neurology Neurosurgery and Psychiatry
影响因子:7.5
doi:10.1136/jnnp-2023-332132
Syeda, Safoora B; Lone, Museer A; Mohassel, Payam; Donkervoort, Sandra; Munot, Pinki; França, Marcondes C Jr; Galarza-Brito, Juan Eli; Eckenweiler, Matthias; Asamoah, Alexander; Gable, Kenneth; Majumdar, Anirban; Schumann, Anke; Gupta, Sita D; Lakhotia, Arpita; Shieh, Perry B; Foley, A Reghan; Jackson, Kelly E; Chao, Katherine R; Winder, Thomas L; Catapano, Francesco; Feng, Lucy; Kirschner, Janbernd; Muntoni, Francesco; Dunn, Teresa M; Hornemann, Thorsten; Bönnemann, Carsten G