×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.700
Biomarker
group
HPO
×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.700
CausalMutation
group
CLINVAR
×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.700
Biomarker
group
CTD_human
This region contains a novel locus for autosomal recessive early-onset parkinsonism , PARK6 .
11254447
2001
×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.700
Biomarker
group
BEFREE
Mutations associated with early-onset autosomal recessive parkinsonism have been identified in the Parkin gene, and recently a second gene, PARK6 , involved in early-onset recessive parkinsonism was localized on chromosome 1p35-36.
11462174
2001
×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.700
GeneticVariation
group
BEFREE
Phenotypic characterisation of autosomal recessive PARK6 -linked parkinsonism in three unrelated Italian families.
11748730
2001
×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.700
GeneticVariation
group
BEFREE
Two new AREP loci (PARK6 and PARK7) have been recently mapped on chromosome 1p and confirmed in independent datasets, suggesting that both might be frequent.
12548343
2002
×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.700
Biomarker
group
BEFREE
To date, no pathology or functional imaging studies are available on PARK6 -linked parkinsonism .
12447943
2002
×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.700
Biomarker
group
BEFREE
PARK6 is a common cause of familial parkinsonism .
12548371
2002
×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.700
GeneticVariation
group
LHGDN
Two new AREP loci (PARK6 and PARK7) have been recently mapped on chromosome 1p and confirmed in independent datasets, suggesting that both might be frequent.
12548343
2002
×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.700
GeneticVariation
group
LHGDN
PARK6 is a common cause of familial parkinsonism .
12548371
2002
×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.700
Biomarker
group
BEFREE
The results indicate worldwide distribution of PARK6 -linked parkinsonism .
15505170
2004
×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.700
GeneticVariation
group
LHGDN
All sites of mutations were novel, suggesting that PINK1 may be the second most common causative gene next to parkin in parkinsonism with the recessive mode of inheritance.
15349870
2004
×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.700
GeneticVariation
group
BEFREE
The identification of a higher number of patients (5%) than controls (1%) carrying a single heterozygous mutation, along with previous positron emission tomography studies demonstrating a preclinical nigrostriatal dysfunction in PARK6 carriers, supports the hypothesis that haploinsufficiency of PINK1, as well as of other EOP genes, may represent a susceptibility factor toward parkinsonism .
15349860
2004
×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.700
GeneticVariation
group
BEFREE
The gene responsible for PARK6 Parkinson's disease, PINK1 , does not influence common forms of parkinsonism .
15349859
2004
×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.700
Biomarker
group
CTD_human
These findings confirm that recessive mutations in PINK1 cause early-onset parkinsonism and expand the associated clinical phenotype.
15349871
2004
×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.700
GeneticVariation
group
BEFREE
These findings confirm that recessive mutations in PINK1 cause early-onset parkinsonism and expand the associated clinical phenotype.
15349871
2004
×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.700
Biomarker
group
BEFREE
All sites of mutations were novel, suggesting that PINK1 may be the second most common causative gene next to parkin in parkinsonism with the recessive mode of inheritance.
15349870
2004
×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.700
GeneticVariation
group
BEFREE
Recessively inherited mutations in parkin, DJ-1, and PINK1 have recently been linked to familial forms of parkinsonism .
15294138
2004
×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.700
Biomarker
group
BEFREE
PINK1 , Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism .
15970950
2005
×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.700
GeneticVariation
group
BEFREE
Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability.
15824318
2005
×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.700
GeneticVariation
group
BEFREE
Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.
16009891
2005
×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.700
Biomarker
group
BEFREE
Thus, early-onset PD with dementia may be considered PINK1 -linked parkinsonism .
15955953
2005
×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.700
GeneticVariation
group
LHGDN
Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.
16009891
2005
×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.700
GeneticVariation
group
BEFREE
Recently, a putative mitochondrial kinase, PINK1 , has been found mutated in an inherited form of parkinsonism .
16207731
2005
×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.700
GeneticVariation
group
BEFREE
In January 2004, mutations in PINK1 , coding for a mitochondrial kinase, were found to be causal for recessive parkinsonism .
16280683
2005