|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PINK1 and PARKIN cause early-onset Parkinson's disease (PD), thought to be due to mitochondrial toxicity.
|
27336715 |
2016 |
|
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 |
Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts.
|
25815004 |
2015 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PARK2 result in autosomal recessive young onset Parkinson's disease (YOPD).
|
25817512 |
2015 |
|
Young onset Parkinson disease
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Parkin maintains mitochondrial levels of the protective Parkinson's disease-related enzyme 17-β hydroxysteroid dehydrogenase type 10.
|
25591737 |
2015 |
|
Young onset Parkinson disease
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
The KM-parkin-DB: A Sub-set MutationView Database Specialized for PARK2 (PARKIN) Variants.
|
25907632 |
2015 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the PARK2 and PINK1 genes, encoding the cytosolic E3 ubiquitin-protein ligase Parkin and the mitochondrial serine/threonine kinase PINK1, respectively, cause autosomal recessive early-onset Parkinson's disease (PD).
|
25591737 |
2015 |
|
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 |
Mutations in PARK2, PINK1, and DJ-1 have been associated with autosomal recessive early-onset Parkinson's disease.
|
24677602 |
2014 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive early-onset Parkinson's disease is most often caused by mutations in the genes encoding the cytosolic E3 ubiquitin ligase Parkin and the mitochondrial serine/threonine kinase PINK1.
|
24878071 |
2014 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Parkinson protein 2, E3 ubiquitin protein ligase (PARK2) gene mutations are the most frequent causes of autosomal recessive early onset Parkinson's disease and juvenile Parkinson disease.
|
25136611 |
2014 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Until now, there have been no reports of PARK2 mutations in a Uyghur family with EOPD.
|
24831986 |
2014 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
PARK2, PINK1 and PARK7 (DJ-1), have been identified as responsible for the autosomal recessive form of early-onset Parkinson disease (EO-PD).
|
23986421 |
2013 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we screened mutations in coding regions of PARK2 and PINK1 genes in 136 unrelated Brazilian patients with early-onset Parkinson's disease through automatic sequencing.
|
24167364 |
2013 |
|
Young onset Parkinson disease
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Analysis of Leucine-rich repeat kinase 2 (LRRK2) and Parkinson protein 2 (parkin, PARK2) genes mutations in Slovak Parkinson disease patients.
|
23531835 |
2013 |
|
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 |
PARK2 gene mutations in early onset Parkinson's disease patients of South India.
|
22766139 |
2012 |
|
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 |
|
Young onset Parkinson disease
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Lewy body pathology and typical Parkinson disease in a patient with a heterozygous (R275W) mutation in the Parkin gene (PARK2).
|
22555654 |
2012 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease.
|
21534944 |
2012 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We screened 136 EOPD probands from a high-ascertainment regional and community-based prevalence study for pathogenic mutations in PARK2 (parkin), PINK1, PARK7 (DJ-1), and exon 41 of LRRK2.
|
22956510 |
2012 |
|
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 |
The 202A deletion of the parkin gene causes early-onset Parkinson's disease with marked levodopa/STN-DBS-resistant axial features.
|
21506149 |
2011 |
|
Young onset Parkinson disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
We conclude that CMCT is usually normal in idiopathic EOPD: we suggest that in presence of a prolonged CMCT the diagnosis of PARK2 should be considered.
|
20797900 |
2011 |
|
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the parkin gene are the most common genetic risk factor for EOPD and may offer information about the neuropsychological pattern of performance in both symptomatic and asymptomatic mutation carriers.
|
21092386 |
2011 |