Associated Papers
Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.
Chew EG et al.
Nature Aging, 2025
Newborn screening for acid sphingomyelinase deficiency in Illinois: A single center's experience.
Hickey RE et al.
Journal of Inherited Metabolic Disease, 2024
SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.
Wang R et al.
Hereditas, 2023
36907956 (PubMed )
Supplement: 41065_2023_272_MOESM3_ESM.xlsx › Sheet1
A genetic analysis of a Spanish population with early onset Parkinson's disease.
Cristina TP et al.
Plos One, 2020
Crystal structure of mammalian acid sphingomyelinase.
Gorelik A et al.
Nature Communications, 2016
27435900 (PubMed )
Supplement: ncomms12196-s1.pdf
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