PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin.
|
25939424 |
2015 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
CausalMutation
|
CLINVAR |
The principal PINK1 and Parkin cellular events triggered in response to dissipation of mitochondrial membrane potential occur in primary neurons.
|
23751051 |
2013 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation.
|
23818421 |
2013 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.
|
23279440 |
2013 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population.
|
21996382 |
2012 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
CausalMutation
|
CLINVAR |
The PINK1/Parkin-mediated mitophagy is compromised by PD-associated mutations.
|
20798600 |
2010 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
CausalMutation
|
CLINVAR |
PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy.
|
20404107 |
2010 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
CausalMutation
|
CLINVAR |
p62/SQSTM1 cooperates with Parkin for perinuclear clustering of depolarized mitochondria.
|
20604804 |
2010 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
GeneticVariation
|
CLINVAR |
p62/SQSTM1 cooperates with Parkin for perinuclear clustering of depolarized mitochondria.
|
20604804 |
2010 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia.
|
18486522 |
2009 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
CausalMutation
|
CLINVAR |
Diverse effects of pathogenic mutations of Parkin that catalyze multiple monoubiquitylation in vitro.
|
16339143 |
2006 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin.
|
16049031 |
2005 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
CausalMutation
|
CLINVAR |
Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin.
|
16049031 |
2005 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Striatal and cortical pre- and postsynaptic dopaminergic dysfunction in sporadic parkin-linked parkinsonism.
|
15090472 |
2004 |