Associated Papers
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.
Lange LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
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
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
A Global Perspective of GBA1-Related Parkinson's Disease: A Narrative Review.
Koros C et al.
Genes, 2024
The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons.
Jones-Tabah J et al.
Molecular Neurodegeneration, 2024
Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.
Towns C et al.
Npj Parkinson's Disease, 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
Understanding monogenic Parkinson's disease at a global scale.
Junker J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Clinicogenetic Characterization of Patients with PD and Heterozygous GBA1 Variants in an Indian Cohort.
Kamath SD et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
Di Fonzo A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
GBA1 variants in Brazilian Gaucher disease patients.
Basgalupp SP et al.
Molecular Genetics and Metabolism Reports, 2023
The Landscape of Monogenic Parkinson's Disease in Populations of Non-European Ancestry: A Narrative Review.
Koros C et al.
Genes, 2023
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
GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.
Gabbert C et al.
Bmc Genomics, 2023
Genetic study of early-onset Parkinson's disease in the Malaysian population.
Tay YW et al.
Parkinsonism & Related Disorders, 2023
Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India.
Holla VV et al.
Journal of Movement Disorders, 2022
Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson's disease: mutational spectrum and clinical features.
Lim JL et al.
Journal of Neural Transmission (vienna, Austria : 1996), 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
In-depth phenotyping for clinical stratification of Gaucher disease.
D'Amore S et al.
Orphanet Journal of Rare Diseases, 2021
Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants.
Limgala RP et al.
Jimd Reports, 2021
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
Mutation screening and burden analysis of VPS13C in Chinese patients with early-onset Parkinson's disease.
Gu X et al.
Neurobiology of Aging, 2020
Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.
Dimitriou E et al.
Molecular Genetics and Metabolism Reports, 2020
Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients.
Rolfs A et al.
Plos One, 2013
Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence.
Felderhoff-Mueser U et al.
American Journal of Medical Genetics. Part A, 2004
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0
Detection of 12 new mutations in Gaucher disease Brazilian patients.
Rozenberg R et al.
Blood Cells, Molecules & Diseases, 0