Interrogating Parkinson’s disease associated mutations at single cell resolution
Objective: To uncover potentially causative Parkinson’s disease (PD) somatic mutations in post-mortem substantia nigra pars compacta (SNpc) tissues from sporadic PD patients using single cell…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…GP2: training the next generation of Parkinson’s disease genetics researchers – wherever they are in the world
Objective: To establish a virtual ‘center of excellence’ with resources and expertise to serve the training needs of the Global Parkinson’s Genetics Program (GP2; www.gp2.org)…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…A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson’s disease
Objective: To report the identification of a novel variant in the gene encoding alpha-synuclein (SNCA), segregating with Parkinson’s Disease (PD) in two families of Turkish…Rare UQCRC1 variants in Chinese patients with Early Onset Parkinson’s Disease
Objective: To screen the variants of UQCRC1 in Chinese patients with early onset PD (EOPD). Background: Mitochondrial ubiquinol-cytochrome c reductase core protein 1 (UQCRC1) gene…Using a Dopamine Genetic Risk Score to Predict Impulse Control Behaviours for Parkinson’s Disease Patients
Objective: The current study aimed to utilise a dopamine genetic risk score and objective laboratory-based behavioural measures of impulse control to identify Parkinson’s patients most…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)…
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