Associated Papers
Rare diseases load through the study of a regional population.
Michel É et al.
Plos Genetics, 2025
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
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
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
The Link between Gaucher Disease and Parkinson's Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism.
Indellicato R et al.
International Journal of Molecular Sciences, 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
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.
Kernohan KD et al.
Human Mutation, 2017
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