|
Young onset Parkinson disease
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin.
|
25939424 |
2015 |
|
Young onset Parkinson disease
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin.
|
16049031 |
2005 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease.
|
14872018 |
2004 |
|
Young onset Parkinson disease
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing in dementia with Lewy bodies.
|
26836416 |
2016 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
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 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
PARK2, an autosomal recessive gene, is the most common one referring to early-onset Parkinson disease (EOPD).
|
30702579 |
2019 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Homozygous germline mutations of the PARK2 gene are responsible for the development of early-onset Parkinson's disease (PD).
|
22302706 |
2012 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
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 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in parkin (PARK2) and Pink1 (PARK6) are responsible for autosomal recessive forms of early onset Parkinson's disease (PD).
|
28106473 |
2017 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Association between early-onset Parkinson's disease and mutations in the parkin gene.
|
10824074 |
2000 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
PARK2 gene mutations in early onset Parkinson's disease patients of South India.
|
22766139 |
2012 |
|
Young onset Parkinson disease
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease.
|
19801972 |
2009 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
PARK2 mutations and clinical features in a Chinese population with early-onset Parkinson's disease.
|
18188499 |
2008 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
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 |
|
Young onset Parkinson disease
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD.
|
27182553 |
2016 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
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 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the parkin gene are the most common genetic cause of early-onset Parkinson disease (PD).
|
20558392 |
2010 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Parkin (PARK 2) mutations are rare in Czech patients with early-onset Parkinson's disease.
|
25238391 |
2014 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We have sequenced the parkin gene of 38 patients with early-onset Parkinson's disease (<41 years).
|
11558785 |
2001 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
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 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Early-onset Parkinson's disease (EOPD) has been associated with recessive mutations in parkin (PARK2).
|
21993715 |
2011 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutational screening of the parkin gene among South Indians with early onset Parkinson's disease.
|
16227559 |
2005 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
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 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
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 |
|
Young onset Parkinson disease
|
0.200 |
Biomarker
|
disease |
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 |