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
Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum.
Najafi A et al.
Italian Journal of Pediatrics, 2023
The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile.
Lee MM et al.
Annals of Clinical and Translational Neurology, 2022
Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature.
Karimzadeh P et al.
Neuromuscular Disorders : Nmd, 2022
Application of Next-Generation Sequencing in Neurodegenerative Diseases: Opportunities and Challenges.
Shademan B et al.
Neuromolecular Medicine, 2021
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
A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1.
Ame van der Beek N et al.
European Journal of Human Genetics : Ejhg, 2019
Acid ceramidase deficiency: Farber disease and SMA-PME.
Yu FPS et al.
Orphanet Journal of Rare Diseases, 2018
Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1.
Yildiz EP et al.
Clinical Neurology and Neurosurgery, 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
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
Application of next-generation sequencing technologies in Neurology.
Jiang T et al.
Annals of Translational Medicine, 2014
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.
Zhou J et al.
American Journal of Human Genetics, 2012