Parkinson’s-disease risk variants are differentially associated with discrete phenotypic characteristics of Parkinson’s-disease at baseline.
Objective: Evaluate whether genetic risk variants for Parkinson’s disease discovered in case-control GWAS uniformly or differentially contribute to the clinical phenotype of PD. Background: Genetic…Providing Genetic Testing and Genetic Counseling to the Parkinson’s Disease Community: the PD GENEration Pilot Study Experience
Objective: A pilot study was conducted to assess the feasibility of offering widespread genetic testing and counseling to patients with Parkinson’s disease (PD) in the…The Commercial Genetic Testing Landscape for Parkinson’s Disease
Objective: To evaluate commercial genetic testing offered for Parkinson’s disease (PD) Background: The etiology of PD is complex and, typically, multifactorial. At least 6 genes…Genotypic and phenotypic spectrum of PINK-1 associated parkinsonism in 44 mutation carriers from 11 Tunisian families
Objective: To characterize the family history and clinical features of mutations of the PINK-1 gene in a cohort of Tunisian patients with Parkinson disease (P.D)…Parkin Mutation and Deep Brain Stimulation
Objective: To investigate the clinical features of Parkin mutated patients who undergone subthalamic brain stimulation (DBS group) and pharmalogically treated only (Non-DBS group). Background: The…SRY as a potential therapeutic target for men with Parkinson’s Disease
Objective: Develop a potential disease-modifying gene therapy for men with Parkinson’s Disease Background: A hallmark symptom of PD is the loss of midbrain dopamine (DA)…Novel PLA2G6 Mutation Presenting as Early-Onset Parkinson’s Disease
Objective: To report a case of a novel mutation in the PLA2G6 gene resulting in early-onset Parkinson’s Disease. Background: The phospholipase A2 group VI (PLA2G6)…α-Synuclein in sympathetic nerve fibers distinguishes PRKN from LRRK2 and other genetic forms of Parkinson’s Disease
Objective: This cross-sectional observational study compared magnitudes of intra-neuronal deposition of α-synuclein in common and rare genetic forms of Parkinson’s disease. Background: Cytoplasmic inclusions of…Building a Global Parkinson’s Genetics Program (GP2): Clinical Cohorts Integration Working Group
Objective: To recruit Parkinson's Disease (PD) cohorts across the world for the global Parkinson's Genetics Program (GP2, http://gp2.org/), harmonise clinical data across cohorts for joint…Utility of the long-read single-molecule nanopore sequencing for detection of repeat number and epigenetic modifications relevant for X-linked dystonia-parkinsonism
Objective: To investigate the utility of long-read single-molecule nanopore sequencing for simultaneous detection of repeat number and methylation of the SINE-VNTR-Alu (SVA) retrotransposon in the…
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