Clinical And Genetic Analysis Of Patients With Parkinson’s Disease -LRRK2 Variants From A Referral Centre In India
Objective: Our study aims to describe the clinical features and genetic profile of patients of PD carrying LRRK2 variants and draw correlation with genetic variants.…Clinical and genetic characteristics of PLA2G6-parkinsonism in southwest of China and a review of heterogeneity of phenotype and genotype between Asian and Caucasian patients
Objective: Objective: To summarize clinical characteristics, imaging features and genetic data of PLA2G6 mutant patients in southwest of China, and to investigate the heterogeneity between Asian and…Genetic Analysis of Mendelian mutations in A Large Chinese Early-onset and Familial Parkinson’s Disease
Objective: This study aims to determine the mutation spectrum of Mendelian Parkinson’s disease (PD) genes and clinical features of mutation carriers within a cohort of early-onset…Studying monogenic Parkinson’s disease by building a global cohort of mutation carriers
Objective: ObjectiveTo build a multi-ancestry cohort of individuals with pathogenic variants in genes known to cause Parkinson’s disease (PD) to study monogenic PD at a…Determining and Leveraging Local Ancestry to Assess Individual-Level Risk: from the Global Parkinson’s Genetics Program
Objective: We develop a scalable pipeline leveraging existing tools to determine local ancestry for all individuals in the Global Parkinson’s Genetics Program (GP2), aiming to…RAB32 variant p.Ser71Arg in the ROstock PArkinson’s Disease Study (ROPAD)
Objective: To identify and characterize PD patients with RAB32 variant p.Ser71Arg in the ROstock PArkinson’s Disease Study (ROPAD; ClinicalTrials.gov NCT03866603). Background: A recent preprint provided…Expanding the Spectrum of Autosomal Recessive Genes Responsible for Parkinson’s Disease in the Chinese Population
Objective: We aimed to identify novel candidate autosomal recessive (AR) genes combining whole-exome sequencing (WES) and long-read sequencing data (LRS) in autosomal recessive Parkinson’s disease (AR-PD) families and sporadic early-onset…Readiness for genetic testing among Indian movement disorder patients:A tertiary centre experience
Objective: To assess knowledge & attitude of Indian patients with movement disorders and their caregivers to understand their readiness for genetic testing. Background: Genetic testing…Artificial intelligence: a potential predictor of GBA1-mutated genotype in Parkinson’s Disease patients?
Objective: To assess whether artificial intelligence could predict GBA1-mutated genotype in Parkinson’s Disease (GBA1-PD) patients according to the different impact of significant clinical features. Background:…Screening for newly PD-associated RAB32 p.S71R variant in Latin America
Objective: Our aim was to identify whether a novel putative pathogenic variant in RAB32, a gene recently associated with familial forms of Parkinson’s Disease (PD),…
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