Associated Papers
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
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
Structural basis for the activation of acid ceramidase.
Gebai A et al.
Nature Communications, 2018
Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.
Kim SY et al.
American Journal of Medical Genetics. Part A, 2016
Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation.
Bashyam MD et al.
Clinical Genetics, 2014
A novel mutation in an atypical presentation of the rare infantile Farber disease.
Al Jasmi F
Brain & Development, 2012
Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.
Chedrawi AK et al.
Brain & Development, 2012
Population genetic analysis of the N-acylsphingosine amidohydrolase gene associated with mental activity in humans.
Kim HL et al.
Genetics, 2008
Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease.
Muramatsu T et al.
Journal of Inherited Metabolic Disease, 2002
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