Associated Papers
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G et al.
Epilepsia Open, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and In Cell Enzyme Activity Assay.
Cuinat S et al.
Neurology. Genetics, 2025
Spinal muscular atrophy with progressive myoclonic epilepsy: A case report from China with new ASAH1 variants.
Yin X et al.
Heliyon, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 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
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
C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease.
Cozma C et al.
Scientific Reports, 2017
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.
Kernohan KD et al.
Human Mutation, 2017
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
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.
Dyment DA et al.
Clinical Genetics, 2014