Homozygous PRKN exon 3 deletion in an early-onset Parkinson’s disease family from the Kadazan-Dusun ethnic group indigenous to Sabah, Malaysia
Objective: To determine the causal gene for early-onset Parkinson’s disease (PD) in a Malaysian family of Kadazan-Dusun ethnicity. Background: Among Asian populations, relatively little is…Mutations in GBA and LRRK2 are not associated with increased inflammatory markers
Objective: To assess central and peripheral cytokines among Parkinson's disease (PD) patients with mutations in the LRRK2 and GBA genes as well as among non-manifesting…Parkinson’s Families Project: analysis of a large cohort of patients with early onset and familial Parkinson’s disease
Objective: We aim to identify new gene variants associated with familial and early-onset Parkinson's disease (PD), through genetic comparison of affected and unaffected family members.…Genotype-phenotype relations for GBA as a Parkinson’s disease risk factor gene: MDSGene Systematic Review
Objective: To provide a comprehensive and systematic review of genotype-phenotype associations of GBA variants for Parkinson’s disease (PD). Background: Biallelic pathogenic variants in the glucocerebrosidase gene (GBA) cause Gaucher disease (GD).…LIPAD (LRRK2/Luebeck) International Parkinson’s Disease Study: Protocol and feasibility study
Objective: To systematically assess clinical signs and symptoms including non-motor features, comorbidities, medication and environmental factors in 1,000 participants internationally: 300 with LRRK2 (Leucine-rich repeat…Axial Impairment Following Deep Brain Stimulation in Parkinson’s Disease: a Surgicogenomic Approach
Objective: We aimed to identify genetic variants associated with clinical heterogeneity in deep brain stimulation outcome of Parkinson’s Disease patients with an overall objective of…The MJFF Global Genetic Parkinson’s Disease Research Resource
Objective: To establish a comprehensive research and clinical trial-ready resource of centers working with individuals with monogenic Parkinson’s Disease (PD). Background: As gene-targeted therapies are…Analysis of the HLA locus in isolated REM sleep behavior disorder and Lewy body dementia
Objective: To examine genetic association of HLA alleles and amino acid for isolated REM sleep behavior disorder (iRBD) and Lewy body dementia (LBD). We compare…Lysosomal storage disorder genes variants in Parkinson’s disease: a large cohort study in Chinese mainland population
Objective: In this study, we investigated the association between rare variants in lysosomal storage disorders (LSDs) genes and Parkinson’s disease in large Chinese mainland cohorts.…Comprehensive analysis of PRKN in a large Parkinson’s Disease cohort identifies causative mutations and validates population scale screening by microarray
Objective: To screen for PRKN mutations at the population scale. Background: PRKN mutations are the most common recessive cause of Parkinson’s disease (PD) and are…
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