Associated Papers
Characterization of novel and recurrent SPTLC2 variants in childhood-onset amyotrophic lateral sclerosis: Insights into sphingolipid dysregulation.
Fu X et al.
Journal of Neuromuscular Diseases, 2025
SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis.
Naruse H et al.
Annals of Clinical and Translational Neurology, 2024
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.
Syeda SB et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2024
Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders.
Mohassel P et al.
Journal of Neuromuscular Diseases, 2024
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