Associated Papers
Spinal muscular atrophy with progressive myoclonic epilepsy: A case report from China with new ASAH1 variants.
Yin X et al.
Heliyon, 2025
ASAH1 Variants Causing Spinal Muscular Atrophy Phenotype.
Wander A et al.
Indian Journal of Pediatrics, 2024
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
Elsea SH et al.
Human Mutation, 2020
Acid ceramidase deficiency: Farber disease and SMA-PME.
Yu FPS et al.
Orphanet Journal of Rare Diseases, 2018
ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.
Filosto M et al.
European Journal of Human Genetics : Ejhg, 2016
Eyelid myoclonic status epilepticus: A rare phenotype in spinal muscular atrophy with progressive myoclonic epilepsy associated with ASAH1 gene mutation.
Oguz Akarsu E et al.
Seizure, 2016
Spinal muscular atrophy associated with progressive myoclonus epilepsy.
Topaloglu H et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2016
Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy.
Gan JJ et al.
Neuromuscular Disorders : Nmd, 2015
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.
Dyment DA et al.
Clinical Genetics, 2015
Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.
Rubboli G et al.
Epilepsia, 2015
Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1.
Giráldez BG et al.
Neuromuscular Disorders : Nmd, 2015
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.
Dyment DA et al.
Clinical Genetics, 2014
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