Associated Papers
Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan.
Lin HH et al.
Molecular Genetics & Genomic Medicine, 2026
Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.
Chew EG et al.
Nature Aging, 2025
Whole exome sequencing identifies genetic markers of enterovirus susceptibility in East Asians.
Sung CC et al.
Frontiers in Microbiology, 2024
Somatic Mutation of PRKAR1A in Four Cases of Sporadic Cardiac Myxoma.
Sun Y et al.
Archives of Iranian Medicine, 2023
SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.
Wang R et al.
Hereditas, 2023
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.
Straniero L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Rare Variants Analysis of Lysosomal Related Genes in Early-Onset and Familial Parkinson's Disease in a Chinese Cohort.
Chen YP et al.
Journal of Parkinson's Disease, 2021
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
Exome sequencing improves genetic diagnosis of fetal increased nuchal translucency.
Yang X et al.
Prenatal Diagnosis, 2020
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation.
Lu X et al.
Frontiers in Pharmacology, 2019
[Analysis of SMPD1 gene mutations in Chinese patients with Parkinson's disease].
Song N et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
SMPD1 variants in Chinese Han patients with sporadic Parkinson's disease.
Mao CY et al.
Parkinsonism & Related Disorders, 2017
[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
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
Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children.
Silver AJ et al.
Genetic Testing and Molecular Biomarkers, 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
Rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease.
Foo JN et al.
Neurobiology of Aging, 2013
Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.
Zhang H et al.
Orphanet Journal of Rare Diseases, 2013
[Rapid genetic prenatal diagnosis for achondroplasia].
Zhu HY et al.
Zhonghua Fu Chan Ke Za Zhi, 2008