Associated Papers
Spinal muscular atrophy with progressive myoclonic epilepsy: A case report from China with new ASAH1 variants.
Yin X et al.
Heliyon, 2025
Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing.
Theuriet J et al.
European Journal of Human Genetics : Ejhg, 2024
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.
Fernández-Eulate G et al.
Neurology. Genetics, 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
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
C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease.
Cozma C et al.
Scientific Reports, 2017
Lysosomal storage diseases.
Ferreira CR et al.
Translational Science of Rare Diseases, 2017
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