Associated Papers
Penetrance of Parkinson's disease in GBA1 carriers depends on variant severity and polygenic background.
Hassanin E et al.
Npj Parkinson's Disease, 2025
Genetically stratified Parkinson's disease with freezing of gait is related to specific pattern of cognitive impairment and non-motor dominant endophenotype.
Pavelka L et al.
Frontiers in Aging Neuroscience, 2024
39463818 (PubMed )
Supplement: Table_1.DOCX
Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study.
Pachchek S et al.
Npj Parkinson's Disease, 2023
Safety, Pharmacokinetics, and Pharmacodynamics of Oral Venglustat in Patients with Parkinson's Disease and a GBA Mutation: Results from Part 1 of the Randomized, Double-Blinded, Placebo-Controlled MOVES-PD Trial.
Peterschmitt MJ et al.
Journal of Parkinson's Disease, 2022
34897099 (PubMed )
Supplement: jpd-12-jpd212714-s001.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
Identification of sequence variants associated with severe microtia-astresia by targeted sequencing.
Wang P et al.
Bmc Medical Genomics, 2019
Proinflammatory and proosteoclastogenic potential of peripheral blood mononuclear cells from Gaucher patients: Implication for bone pathology.
Mucci JM et al.
Blood Cells, Molecules & Diseases, 2015
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
Heterologous expression and characterization of a rare Gaucher disease mutation (c.481C > T) from a Canadian aboriginal population using archival tissue samples.
Sinclair G et al.
Molecular Genetics and Metabolism, 2001
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0
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