Patient-derived GBA1-PARK2 double-mutant cellular models to study the effect of GBA1 as a modifier of familial Parkinson’s disease
Objective: In this study, we propose to decipher the role of GBA1 as a modifier of familial Parkinson’s disease (PD) using double-mutant patient-derived cellular models…How common are the genomic rearrangements among possibly autosomal recessive PD cases in Turkey?
Objective: In this study, we aimed to investigate the frequency and phenotypical features in a subset of early-onset Parkinson’s disease (EO-PD) (age-at-onset ≤45 years) patients due…Parkin (PARK 2) Mutations in Patients with Early-Onset Parkinson’s Disease
Objective: Genetic testing Parkin (PARK 2) gene in patients with young-onset Parkinson's disease in Belarus. Background: The diagnosis of young-onset Parkinson's disease (PD) is the same…Effect of deep brain stimulation on visuospatial impairment in Parkinson’s disease
Objective: We evaluated postoperative change of visuospatial impairment in the patients with Parkinson’s disease (PD) underwent deep brain stimulation (DBS) to assess the impact of…Distinct pattern of striatal dopaminergic depletion in patients with parkin mutation
Objective: As a pilot study, this study was aimed to perform the detailed analysis of the striatal DAT density in patients with early-onset Parkinson's disease…Investigation of mosaicism for copy number variants in PD brain
Objective: To investigate the presence of genetic mosaicism due to somatically acquired copy number variants (CNVs) affecting PD genes in PD brain. Background: The cause…Effects of subthalamic deep brain stimulation in motor and nonmotor function in Parkinson’s disease patients with parkin mutation
Objective: The aim of our study was to evaluate prospectively the changes in motor, nonmotor symptoms (NMS) and quality of life produced by subthalamic deep…Exome sequencing in the Czech patients with early-onset Parkinson’s disease
Objective: To evaluate prevalence of disease causing mutations and other rare variants in patients with the Early-Onset Parkinson's disease (EOPD). Background: Currently, there are four…Genetic Identification of early-onset parkinsonism among Norwegian patients
Objective: To investigate the genetic etiology of early-onset (AAO > 45 Years) parkinsonism. Background: Parkinsonism is a neurological syndrome characterized by resting tremor, rigidity, bradykinesia…High throughput pooled-DNA sequencing of mendelian/susceptibility Parkinson’s disease genes in Spanish population
Objective: The primary outcome of our study was the identification of rare variants in 5 major Mendelian PD genes (SNCA, PARK2, PINK1, DJ1, LRRK2) and…
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