Integrated whole exome sequencing and chromosomal microarray in familial Parkinson’s disease
Objective: To determine whether whole exome sequencing (WES) plus chromosomal microarray analysis (CMA) yield a genetic etiology in a cohort of 110 individuals with familial…Increased Parkin expression in a PARK20 (SYNJ1 mutation) iPSCs-based model
Objective: To generate mechanistic insight into how the SYNJ1 p.Arg258Gln mutation leads to neurodegeneration in juvenile Parkinsonism. Background: In humans, the SYNJ1 homozygous p.Arg258Gln missense…Expanding the canvas of PARKIN mutations and clinical phenotypes in familial and early onset Parkinson’s disease patients
Objective: To identify PARKIN mutations in PD patients with familial history (FPD) and early onset PD patients with no family history (EOPD; ≤50 years) and…Early-onset Parkinson’s disease in seven patients with heterozygosity for parkin mutation
Objective: To present and discuss a series of 7 patients with early-onset Parkinson’s Disease and heterozygosity for PARK2 mutation. Background: Parkin mutation in homozygosity or…Clinical evaluation of genetic changes of polymerase chain reaction in patients with PD at early stage
Objective: To assess the clinical feature of genetic changes in PARK1 (α-synuclein) and PARK2 with the help of PCR in patients with Parkinson’s disease and…Novel population-specific mutationsin PINK1 and Parkin genes from India
Objective: To look for novel and population-specific genes for PD in 50 Indian families with Parkinson's disease Background: Till date, 138 mutations in PINK1 and…Molecular-genetic nature of Parkinson’s disease in the East European cohort
Objective: Genetic testing of the Parkin gene in patients with Parkinson's Disease (PD) in the East European cohort from Belarus. Background: The diagnosis of Juvenile…Diagnostic utility of a targeted resequencing technique of next generation sequencing in detecting copy number changes in PARK2
Objective: We investigate feasibility of Next Generation Sequencing (NGS) targeted sequencing technique using Ampliseq® technology by Ion PGM® to detect copy number variation mutation in…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…
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