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…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…Two cases of parkinsonism with atypical genetics
Objective: To report and discuss two unrelated patients carrying heterozygous mutations in both Parkin (PARK2) and Glucocerebrosidase (GBA) gene, with atypical Parkinsonian features. Background: Parkin…Sonographic investigation of Pisa syndrome in Parkinson’s disease
Objective: We hypothesized that the trunk muscles might have an impact on Pisa syndrome, so we performed a sonographic investigation of the trunk muscles of…PINK1-dependent clearance of depolarized mitochondria is driven by the UPS and can occur independently of (macro)autophagy
Objective: To disect the role of macroautophagy in PINK1-/Parkin-dependent removal of depolarized mitochondria. Background: The ubiquitin ligase Parkin and mitochondrial kinase PINK1 function together in…Counteracting PINK1/parkin deficiency by activating alternative mitophagic pathway: a potential therapeutic intervention for Parkinson’s disease
Objective: To identify a new therapeutic target for developing neuroprotective treatment in Parkinson's disease (PD) by improving mitochondrial function through restoration of mitochondrial quality control…
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