Recurrent de novo SPTLC2 variant causes childhoodonset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.
- Resource Type
- Article
- Authors
- Syeda, Safoora B.; Lone, Museer A.; Mohassel, Payam; Donkervoort, Sandra; Munot, Pinki; França Jr., Marcondes C.; 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
- Source
- Journal of Neurology, Neurosurgery & Psychiatry; Feb2024, Vol. 95 Issue 2, p103-113, 11p
- Subject
- AMYOTROPHIC lateral sclerosis
SPASTICITY
FAMILIAL spastic paraplegia
LIQUID chromatography-mass spectrometry
- Language
- ISSN
- 00223050