Associated Papers
Understanding Parkinson disease in Spain: Genetic and clinical insights.
Gómez-Garre P et al.
European Journal of Neurology, 2025
39498811 (PubMed )
Supplement: ENE-32-e16499-s006.xlsx › Hoja1
Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population.
Sako S et al.
Human Genome Variation, 2024
38866761 (PubMed )
Supplement: 41439_2024_282_MOESM2_ESM.xlsx › Supp_Table_2
Crystal structure of mammalian acid sphingomyelinase.
Gorelik A et al.
Nature Communications, 2016
27435900 (PubMed )
Supplement: ncomms12196-s1.pdf
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
Zampieri S et al.
Human Mutation, 2016
Select a paper to view details