Condition: Parkinson Disease 6, Autosomal Recessive Early-Onset


rs138302371 in PINK1 gene and Parkinson Disease 6, Autosomal Recessive Early-Onset PMID 23279440 2013 EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.

PMID 15505171 2004 PINK1 (PARK6) associated Parkinson disease in Ireland.

PMID 15349870 2004 Novel PINK1 mutations in early-onset parkinsonism.

PMID 24652937 2014 PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling.

PMID 15087508 2004 Hereditary early-onset Parkinson's disease caused by mutations in PINK1.

PMID 24784582 2014 Ubiquitin is phosphorylated by PINK1 to activate parkin.

PMID 19229105 2009 Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation.

PMID 15349860 2004 PINK1 mutations are associated with sporadic early-onset parkinsonism.

PMID 22956510 2012 Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.

PMID 16207731 2005 Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.

PMID 16482571 2006 PINK1 mutations in sporadic early-onset Parkinson's disease.

PMID 15955953 2005 Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism.

PMID 15970950 2005 PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.

PMID 17030667 2006 T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease.

PMID 15596610 2004 Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.

PMID 16632486 2006 Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease.

PMID 16401616 2006 Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa.

PMID 18286320 2008 Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation.

PMID 16009891 2005 Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.

PMID 16207217 2005 Analysis of PINK1 in Asian patients with familial parkinsonism.

PMID 16257123 2006 Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan.

PMID 20558144 2010 Assessing the prevalence of PINK1 genetic variants in South African patients diagnosed with early- and late-onset Parkinson's disease.

PMID 21996382 2012 Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population.

rs28940284 in PINK1-AS;PINK1 gene and Parkinson Disease 6, Autosomal Recessive Early-Onset PMID 17030667 2006 T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease.

PMID 16207731 2005 Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.

PMID 19229105 2009 Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation.

PMID 15955953 2005 Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism.

PMID 23279440 2013 EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.

PMID 18286320 2008 Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation.

PMID 16632486 2006 Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease.

PMID 15349860 2004 PINK1 mutations are associated with sporadic early-onset parkinsonism.

PMID 15349870 2004 Novel PINK1 mutations in early-onset parkinsonism.

PMID 15505171 2004 PINK1 (PARK6) associated Parkinson disease in Ireland.

PMID 15970950 2005 PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.

PMID 16482571 2006 PINK1 mutations in sporadic early-onset Parkinson's disease.

PMID 15087508 2004 Hereditary early-onset Parkinson's disease caused by mutations in PINK1.

PMID 16207217 2005 Analysis of PINK1 in Asian patients with familial parkinsonism.

PMID 15596610 2004 Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.

PMID 24652937 2014 PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling.

PMID 16009891 2005 Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.

PMID 22956510 2012 Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.

PMID 16401616 2006 Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa.

PMID 24784582 2014 Ubiquitin is phosphorylated by PINK1 to activate parkin.

PMID 16257123 2006 Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan.

PMID 18359116 2008 L347P PINK1 mutant that fails to bind to Hsp90/Cdc37 chaperones is rapidly degraded in a proteasome-dependent manner.

PMID 17055324 2007 Novel features in a patient homozygous for the L347P mutation in the PINK1 gene.

PMID 17579517 2007 PINK1 protects against oxidative stress by phosphorylating mitochondrial chaperone TRAP1.

PMID 23303188 2013 Characterization of PINK1 (PTEN-induced putative kinase 1) mutations associated with Parkinson disease in mammalian cells and Drosophila.

PMID 15824318 2005 Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability.

rs775809722 in PINK1;MIR6084 gene and Parkinson Disease 6, Autosomal Recessive Early-Onset PMID 15596610 2004 Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.

PMID 16482571 2006 PINK1 mutations in sporadic early-onset Parkinson's disease.

PMID 15955953 2005 Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism.

PMID 16257123 2006 Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan.

PMID 22956510 2012 Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.

PMID 16401616 2006 Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa.

PMID 16009891 2005 Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.

PMID 15349860 2004 PINK1 mutations are associated with sporadic early-onset parkinsonism.

PMID 16207731 2005 Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.

PMID 15087508 2004 Hereditary early-onset Parkinson's disease caused by mutations in PINK1.

PMID 17030667 2006 T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease.

PMID 18286320 2008 Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation.

PMID 19229105 2009 Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation.

PMID 16632486 2006 Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease.

PMID 24784582 2014 Ubiquitin is phosphorylated by PINK1 to activate parkin.

PMID 15970950 2005 PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.

PMID 15505171 2004 PINK1 (PARK6) associated Parkinson disease in Ireland.

PMID 15349870 2004 Novel PINK1 mutations in early-onset parkinsonism.

PMID 16207217 2005 Analysis of PINK1 in Asian patients with familial parkinsonism.

PMID 24652937 2014 PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling.

rs34208370 in PINK1;PINK1-AS gene and Parkinson Disease 6, Autosomal Recessive Early-Onset PMID 15349870 2004 Novel PINK1 mutations in early-onset parkinsonism.

PMID 18785233 2008 Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism.

PMID 17960343 2007 PINK1 mutation in Taiwanese early-onset parkinsonism : clinical, genetic, and dopamine transporter studies.

PMID 18286320 2008 Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation.

PMID 19229105 2009 Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation.

PMID 17030667 2006 T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease.

PMID 15955953 2005 Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism.

PMID 15349860 2004 PINK1 mutations are associated with sporadic early-onset parkinsonism.

PMID 24652937 2014 PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling.

PMID 24784582 2014 Ubiquitin is phosphorylated by PINK1 to activate parkin.

PMID 22956510 2012 Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.

PMID 16632486 2006 Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease.

PMID 16482571 2006 PINK1 mutations in sporadic early-onset Parkinson's disease.

PMID 16207217 2005 Analysis of PINK1 in Asian patients with familial parkinsonism.

PMID 16207731 2005 Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.

PMID 16009891 2005 Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.

PMID 15087508 2004 Hereditary early-onset Parkinson's disease caused by mutations in PINK1.

PMID 16257123 2006 Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan.

PMID 15970950 2005 PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.

PMID 15505171 2004 PINK1 (PARK6) associated Parkinson disease in Ireland.

PMID 16401616 2006 Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa.

PMID 15596610 2004 Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.

PMID 23279440 2013 EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.