Associated Papers
Genetic and Clinical Features of 10 Families With Hereditary Sensory Neuropathies.
Xu K et al.
Journal of the Peripheral Nervous System : Jpns, 2025
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
Demyelination in hereditary sensory neuropathy type-1C.
Saba S et al.
Annals of Clinical and Translational Neurology, 2020
Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I.
Boso F et al.
Neurology. Genetics, 2019
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