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
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
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
Enzyme replacement therapy in infants and very young children with Gaucher disease using velaglucerase alfa: a single-center experience.
Goker-Alpan O et al.
Frontiers in Pediatrics, 2025
Phenotypic consequences of GBA1 pathological variant R463C (p.R502C).
Ryan E et al.
American Journal of Medical Genetics. Part A, 2024
GBA and APOE Impact Cognitive Decline in Parkinson's Disease: A 10-Year Population-Based Study.
Szwedo AA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
35106798 (PubMed )
Supplement: NIHMS1817702-supplement-Supplementary_material.docx
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
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
De La Vega FM et al.
Genome Medicine, 2021
34645491 (PubMed )
Supplement: 13073_2021_965_MOESM1_ESM.xlsx › Table_S1
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
Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease.
Donald A et al.
Orphanet Journal of Rare Diseases, 2020
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0
Select a paper to view details