Condition: Young onset Parkinson disease


rs34424986 in PRKN gene and Young onset Parkinson disease PMID 25815004 2015 Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts.

PMID 23531835 2013 Analysis of Leucine-rich repeat kinase 2 (LRRK2) and Parkinson protein 2 (parkin, PARK2) genes mutations in Slovak Parkinson disease patients.

PMID 19636047 2009 Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations.

PMID 19801972 2009 Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease.

PMID 16049031 2005 Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin.

PMID 26836416 2016 Exome sequencing in dementia with Lewy bodies.

PMID 22555654 2012 Lewy body pathology and typical Parkinson disease in a patient with a heterozygous (R275W) mutation in the Parkin gene (PARK2).

PMID 10072423 1999 A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.

PMID 14519684 2003 RING finger 1 mutations in Parkin produce altered localization of the protein.

PMID 26855076 2016 Neurocognitive & neuropsychiatric phenotypes of PARK2-associated early-onset Parkinson's disease in two siblings.

PMID 27182553 2016 Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD.

PMID 27294386 2016 Genetic Mutation Analysis of Parkinson's Disease Patients Using Multigene Next-Generation Sequencing Panels.

PMID 25591737 2015 Parkin maintains mitochondrial levels of the protective Parkinson's disease-related enzyme 17-β hydroxysteroid dehydrogenase type 10.

PMID 25907632 2015 The KM-parkin-DB: A Sub-set MutationView Database Specialized for PARK2 (PARKIN) Variants.

PMID 15390068 2004 Distribution, type, and origin of Parkin mutations: review and case studies.

PMID 25939424 2015 Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin.

PMID 12891670 2003 How much phenotypic variation can be attributed to parkin genotype?

PMID 19162522 2009 Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers.