×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin.
25939424 2015
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin.
16049031 2005
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2 ) mutations in early-onset Parkinson disease .
14872018 2004
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Exome sequencing in dementia with Lewy bodies.
26836416 2016
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
In this study, we demonstrate that deletions of exons 5, 6 and 7 of the parkin gene are present in two affected individuals of a Greek pedigree with early onset Parkinson's disease .
9856485 1998
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
PARK2 , an autosomal recessive gene, is the most common one referring to early-onset Parkinson disease (EOPD ).30702579 2019
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
Homozygous germline mutations of the PARK2 gene are responsible for the development of early-onset Parkinson's disease (PD ).
22302706 2012
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
Mutation of the gene PARK2 , which encodes an E3 ubiquitin ligase , is the most common cause of early-onset Parkinson's disease .
19946270 2010
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
Mutations in parkin (PARK2 ) and Pink1 (PARK6) are responsible for autosomal recessive forms of early onset Parkinson's disease (PD ).
28106473 2017
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
Association between early-onset Parkinson's disease and mutations in the parkin gene.
10824074 2000
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
PARK2 gene mutations in early onset Parkinson's disease patients of South India.22766139 2012
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease.
19801972 2009
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
PARK2 mutations and clinical features in a Chinese population with early-onset Parkinson's disease .18188499 2008
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
To analyze, using positron emission tomography and fluorodopa F 18, the severity and profile of striatal dopaminergic metabolism in YOPD patients with and without parkin gene mutations.
12756135 2003
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD.
27182553 2016
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
Detection of Parkin (PARK2 ) and DJ1 (PARK7) mutations in early-onset Parkinson disease : Parkin mutation frequency depends on ethnic origin of patients.
15108293 2004
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
Mutations in the parkin gene are the most common genetic cause of early-onset Parkinson disease (PD ).
20558392 2010
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
Parkin (PARK 2 ) mutations are rare in Czech patients with early-onset Parkinson's disease .
25238391 2014
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
We have sequenced the parkin gene of 38 patients with early-onset Parkinson's disease (<41 years).
11558785 2001
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
We found 2 sEOAD individuals harboring a known causative variant in PARK2 known to cause early-onset Parkinson's disease ; p.T240M (n = 1) and p.Q34fs delAG (n = 1).
27776828 2017
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
Early-onset Parkinson's disease (EOPD ) has been associated with recessive mutations in parkin (PARK2 ).21993715 2011
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
Mutational screening of the parkin gene among South Indians with early onset Parkinson's disease .
16227559 2005
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
Mutations in the PARK2 (PRKN ) gene are the most common cause of autosomal-recessive (AR) juvenile parkinsonism and young-onset Parkinson's disease (YOPD ).
30099245 2018
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
Mutations in the parkin gene (PRKN) are the most commonly identified genetic factors in early onset Parkinson disease (EOPD ), with biallelic mutations, resulting in a clinical phenotype.
29577677 2018
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
Biomarker
BEFREE
A number of publications have attributed a tumor suppressive (TS) function to PARKIN , a gene associated with recessive familial early onset Parkinson's disease (EOPD ).
22927236 2012