Exome sequencing in dementia with Lewy bodies
Objective: To perform a comprehensive analysis of genes previously implicated in dementia with Lewy bodies (DLB) by exome sequencing of a pathologically confirmed DLB cohort.…A pilot study of whole exome sequencing in progressive supranuclear palsy
Objective: To identify genetic variants associated with Progressive Supranuclear Palsy (PSP) using whole exome sequencing. Background: PSP is a rare tauopathy but is the second…Lysosomal alterations in peripheral blood mononuclear cells of Parkinson’s disease patients
Objective: To identify potential systemic alterations in CMA and macroautophagy markers, and GBA levels/activity in Peripheral Blood Mononuclear Cells (PBMCs) isolated from PD patients with…Clinical presentations of 2 Parkin / lysosomal storage disorder heterozygotes with Parkinson’s disease
Objective: (1) To identify the genetic basis of young-onset or familial Parkinson's disease in South Africa; (2) to clinically characterize the phenotypes observed. Background: Mutations…A web resource on levodopa-induced dyskinesia (LID) genetics
Objective: Establish a web resource summarizing literature-based genetic information on levodopa-induced dyskinesia in an easily accessible and consistent way. Background: Levodopa induced dyskinesia (LID) is…Genetic variation near the SNCA gene associates with Parkinson’s disease motor phenotype and progression
Objective: To examine the extent to which single nucleotide polymorphisms (SNPs) are associated with motor phenotype and progression in Parkinson's disease (PD). Background: Tremor-dominant (TD)…Bristle hair may point to hereditary spastic paraplegia type SPG35/ FAHN
Objective: Finding new phenotypic features or biomarkers in hereditary spastic paraplegia type SPG35 / Fatty Acid Hydroxylase-associated Neurodegeneration (FAHN) to help clinicians to identify this…Gene delivery of AAV2-neurturin for patients with Parkinson’s disease: A meta-analysis
Objective: The objectives of this meta-analysis are: 1) to investigate the efficacy of AAV2-neurturin gene delivery for patients with Parkinson's disease; 2) to compare AAV2-neurturin…Vascular degeneration in Parkinson’s disease
Objective: To determine the role vascular degeneration in human Parkinson's disease (PD). Background: We have previously reported endothelial degeneration in the PD. Current study examined…Presynaptic dopamine depletion predicts late complications and time of progression to advanced disease in patients with early Parkinson’s disease
Objective: To investigate whether the degree of reduced dopamine transporter binding in the striatum is a risk factor for late complications and time of progression…
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