Associated Papers
The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.
Lange LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40672482 (PubMed )
Supplement: media-1.pdf
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST2
Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease.
Spargo TP et al.
Cell Reports, 2025
40056900 (PubMed )
Supplement: NIHMS2069108-supplement-5.xlsx › GBA1_variants
A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases.
Yang J et al.
Npj Parkinson's Disease, 2025
40097465 (PubMed )
Supplement: 41531_2025_901_MOESM1_ESM.xlsx › Supplementary_Table_4
A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF.
Vernet Machado Bressan Wilke M et al.
International Journal of Molecular Sciences, 2024
GBA1 variants in Brazilian Gaucher disease patients.
Basgalupp SP et al.
Molecular Genetics and Metabolism Reports, 2023
Mutational spectrum and clinical features of GBA1 variants in a Chinese cohort with Parkinson's disease.
Zhou Y et al.
Npj Parkinson's Disease, 2023
In-depth phenotyping for clinical stratification of Gaucher disease.
D'Amore S et al.
Orphanet Journal of Rare Diseases, 2021
34649574 (PubMed )
Supplement: 13023_2021_2034_MOESM1_ESM.pdf
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
34867278 (PubMed )
Supplement: Data_Sheet_1.PDF
Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1.
Wilke MVMB et al.
Orphanet Journal of Rare Diseases, 2019
Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION.
Leija-Salazar M et al.
Molecular Genetics & Genomic Medicine, 2019
Identification of novel splice site mutation IVS9 + 1(G > A) and novel complex allele G355R/R359X in Type 1 Gaucher patients heterozygous for mutation N370S.
Hoitsema K et al.
Meta Gene, 2016
Novel pathogenic mutations in the glucocerebrosidase locus.
Duran R et al.
Molecular Genetics and Metabolism, 2012
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