Associated Papers
Early-onset Parkinson's disease in a patient with a rare homozygous pathogenic GBA1 variant and no Gaucher disease symptoms.
Cotrin JC et al.
Neurogenetics, 2025
Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
Cook L et al.
Brain : a Journal of Neurology, 2024
39074992 (PubMed )
Supplement: awae142_supplementary_data.zip › brain-2023-02602-File009.pdf
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study.
Rizig M et al.
The Lancet. Neurology, 2023
Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.
Curado F et al.
Diagnostics (basel, Switzerland), 2023
37685353 (PubMed )
Supplement: diagnostics-13-02812-s001.zip › diagnostics-2530284-supplementary.pdf
Genome-wide Association Identifies Novel Etiological Insights Associated with Parkinson's Disease in African and African Admixed Populations.
Rizig M et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Levodopa-induced dyskinesia in early-onset Parkinson's disease (EOPD) associates with glucocerebrosidase mutation: A next-generation sequencing study in EOPD patients in Thailand.
Thanprasertsuk S et al.
Plos One, 2023
Scalable detection of technically challenging variants through modified next-generation sequencing.
Rojahn S et al.
Molecular Genetics & Genomic Medicine, 2022
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
Screening of the glucocerebrosidase (GBA) gene in South Africans of African ancestry with Parkinson's disease.
Mahungu AC et al.
Neurobiology of Aging, 2020
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
Select a paper to view details