Associated Papers
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Lack of motor defects and ALS-like neuropathology in heterozygous Sptlc1 Exon 2 deletion mice.
Pant DC et al.
Biorxiv : the Preprint Server for Biology, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 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
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.
Dohrn MF et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Méreaux JL et al.
Ebiomedicine, 2024
Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders.
Mohassel P et al.
Journal of Neuromuscular Diseases, 2024
Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis.
Li C et al.
Human Genomics, 2023
Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations.
Wang P et al.
Chinese Medical Journal, 2023
Deciphering lipid dysregulation in ALS: from mechanisms to translational medicine.
Agrawal I et al.
Translational Neurodegeneration, 2022
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
SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins.
Lone MA et al.
The Journal of Clinical Investigation, 2022
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Johnson JO et al.
Jama Neurology, 2021
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
Mohassel P et al.
Nature Medicine, 2021
Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1.
Ajjarapu A et al.
Case Reports in Neurology, 0
Unraveling the multifaceted insights into amyotrophic lateral sclerosis: Genetic underpinnings, pathogenesis, and therapeutic horizons.
Sharma R et al.
Mutation Research. Reviews in Mutation Research, 0