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
Human genetic defects of sphingolipid synthesis.
Dubot P et al.
Journal of Inherited Metabolic Disease, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
40589786 (PubMed )
Supplement: Table_1.xlsx › Hoja_1
A de novo c.113 T > C: p.L38R mutation of SPTLC1: case report of a girl with sporadic juvenile amyotrophic lateral sclerosis.
Liu X et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022
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