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: Prevalence and Genotypic Findings in Italy.
Gragnaniello V et al.
International Journal of Neonatal Screening, 2024
From Lysosomal Storage Disorders to Parkinson's Disease - Challenges and Opportunities.
Mächtel R et al.
Journal of Molecular Biology, 2023
Unexpected phenotypic and molecular changes of combined glucocerebrosidase and acid sphingomyelinase deficiency.
Keatinge M et al.
Disease Models & Mechanisms, 2023
Is SGSH heterozygosity a risk factor for early-onset neurodegenerative disease?
Douglass ML et al.
Journal of Inherited Metabolic Disease, 2021
Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson's Disease.
Paciotti S et al.
Journal of Clinical Medicine, 2020
Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.
Ysselstein D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2019
[Polymorphisms in Sleep and Cognitive Function Related Genes are Associated with Vehicle Crash History in Shift Working Bus Drivers].
Dorokhov VB et al.
Zhurnal Vysshei Nervnoi Deiatelnosti Imeni I P Pavlova, 2017
Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases.
Dodge JC
Frontiers in Molecular Neuroscience, 2017
Systematic Genetic Analysis of the SMPD1 Gene in Chinese Patients with Parkinson's Disease.
Deng S et al.
Molecular Neurobiology, 2016
Crystal structure of mammalian acid sphingomyelinase.
Gorelik A et al.
Nature Communications, 2016
From rare to common and back again: 60years of lysosomal dysfunction.
Coutinho MF et al.
Molecular Genetics and Metabolism, 2016
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
Zampieri S et al.
Human Mutation, 2016
The emerging role of SMPD1 mutations in Parkinson's disease: Implications for future studies.
Gan-Or Z et al.
Parkinsonism & Related Disorders, 2015
The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews.
Dagan E et al.
Parkinsonism & Related Disorders, 2015
Genetic convergence of Parkinson's disease and lysosomal storage disorders.
Deng H et al.
Molecular Neurobiology, 2015
Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease.
Gan-Or Z et al.
Autophagy, 2015
Rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease.
Foo JN et al.
Neurobiology of Aging, 2013