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
39572736 (PubMed )
Supplement: 43587_2024_760_MOESM3_ESM.xlsx › Supplementary_Table_9
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
A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene.
Sipilä JOT et al.
Npj Parkinson's Disease, 2023
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
The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase.
Fog CK et al.
Ebiomedicine, 2018
30497978 (PubMed )
Supplement: mmc1.docx
Self-report data as a tool for subtype identification in genetically-defined Parkinson's Disease.
Winslow AR et al.
Scientific Reports, 2018
Gaucher disease paradigm: from ERAD to comorbidity.
Bendikov-Bar I et al.
Human Mutation, 2012
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients. Mutation in brief no. 251. Online.
Sarria AJ et al.
Human Mutation, 1999
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0
Clinical and preclinical insights into high-dose ambroxol therapy for Gaucher disease type 2 and 3: A comprehensive systematic review.
den Hollander B et al.
Molecular Genetics and Metabolism, 0
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