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…The Parkinson’s Families Project: A family-based study of early onset and familial Parkinson’s disease
Objective: The aim of this study is to identify new genetic variants that cause or predispose to Parkinson’s disease (PD). Our secondary aim is to…Retinal and choroidal changes in autosomal recessive PD are similar to idiopathic PD
Objective: Our aim is to evaluate the structural changes in retina and choroid by Optical Coherence Tomography (OCT) in idiopathic Parkinson's disease (PD) and common…
- « Previous Page
- 1
- …
- 3
- 4
- 5
- 6
- 7
- …
- 9
- Next Page »