Associated Papers
Comprehensive genetic screening of the South African Parkinson's disease study collection using the NeuroBooster array.
Step K et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 2025
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review.
Rossi M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases.
Yang J et al.
Npj Parkinson's Disease, 2025
Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.
Chew EG et al.
Nature Aging, 2025
Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.
Khani M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.
Westenberger A et al.
Brain : a Journal of Neurology, 2024
Clinical prediction of GBA carrier status in Parkinson's disease.
Greenberg J et al.
Clinical Parkinsonism & Related Disorders, 2024
GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.
Gabbert C et al.
Bmc Genomics, 2023
Classification of GBA1 Variants in Parkinson's Disease: The GBA1-PD Browser.
Parlar SC et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.
Vollstedt EJ et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?
Dinur T et al.
International Journal of Molecular Sciences, 2022
Glucosylceramide in cerebrospinal fluid of patients with GBA-associated and idiopathic Parkinson's disease enrolled in PPMI.
Huh YE et al.
Npj Parkinson's Disease, 2021
The Mutation Matters: CSF Profiles of GCase, Sphingolipids, α-Synuclein in PDGBA.
Lerche S et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Longitudinal Measurements of Glucocerebrosidase activity in Parkinson's patients.
Alcalay RN et al.
Annals of Clinical and Translational Neurology, 2020
Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.
Benitez BA et al.
Molecular Neurodegeneration, 2016
Mutations in the Parkinson's disease genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA), are not associated with essential tremor.
Clark LN et al.
Parkinsonism & Related Disorders, 2010