|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
|
0.800 |
GeneticVariation
|
UNIPROT |
PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling.
|
24652937 |
2014 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Ubiquitin is phosphorylated by PINK1 to activate parkin.
|
24784582 |
2014 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.
|
23279440 |
2013 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.
|
22956510 |
2012 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation.
|
19229105 |
2009 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation.
|
18286320 |
2008 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan.
|
16257123 |
2006 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease.
|
16632486 |
2006 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
|
0.800 |
GeneticVariation
|
UNIPROT |
PINK1 mutations in sporadic early-onset Parkinson's disease.
|
16482571 |
2006 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
|
0.800 |
GeneticVariation
|
UNIPROT |
T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease.
|
17030667 |
2006 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa.
|
16401616 |
2006 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
|
0.800 |
GeneticVariation
|
UNIPROT |
PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.
|
15970950 |
2005 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.
|
16009891 |
2005 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of PINK1 in Asian patients with familial parkinsonism.
|
16207217 |
2005 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.
|
16207731 |
2005 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism.
|
15955953 |
2005 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
|
0.800 |
GeneticVariation
|
UNIPROT |
PINK1 mutations are associated with sporadic early-onset parkinsonism.
|
15349860 |
2004 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hereditary early-onset Parkinson's disease caused by mutations in PINK1.
|
15087508 |
2004 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
|
0.800 |
GeneticVariation
|
UNIPROT |
PINK1 (PARK6) associated Parkinson disease in Ireland.
|
15505171 |
2004 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel PINK1 mutations in early-onset parkinsonism.
|
15349870 |
2004 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.
|
15596610 |
2004 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|