Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
HPO |
|
|
|
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
CTD_human |
Mutations in the parkin gene are therefore not invariably associated with early onset parkinsonism.
|
10072423 |
1999 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the parkin gene are therefore not invariably associated with early onset parkinsonism.
|
10072423 |
1999 |
Parkinsonian Disorders
|
0.500 |
Therapeutic
|
group |
CTD_human |
Mutations in the parkin gene are therefore not invariably associated with early onset parkinsonism.
|
10072423 |
1999 |
Parkinsonian Disorders
|
0.500 |
Therapeutic
|
group |
CTD_human |
A gene for autosomal recessive parkinsonism, PARK2 (parkin), has recently been identified on chromosome 6q and shown to be mutated in Japanese and European families, mostly with early-onset parkinsonism.
|
10894217 |
2000 |
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
CTD_human |
A gene for autosomal recessive parkinsonism, PARK2 (parkin), has recently been identified on chromosome 6q and shown to be mutated in Japanese and European families, mostly with early-onset parkinsonism.
|
10894217 |
2000 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
A gene for autosomal recessive parkinsonism, PARK2 (parkin), has recently been identified on chromosome 6q and shown to be mutated in Japanese and European families, mostly with early-onset parkinsonism.
|
10894217 |
2000 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We have investigated the presence of mutations in the parkin gene in patients with early-onset parkinsonism.
|
10899410 |
2000 |
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
BEFREE |
Autosomal recessive early-onset parkinsonism with diurnal fluctuation (AR-EPDF, syn. autosomal recessive juvenile parkinsonism, PARK2) is one of the hereditary parkinsonian syndromes.
|
10984666 |
2000 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
In contrast, mutations in the parkin gene are associated with parkinsonism without Lewy body pathology.
|
10991669 |
2000 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Linkage and haplotype analysis using markers in 6q25.2-27 indicated that Parkinsonism in the pedigrees is linked to the parkin gene (maximum LOD-score of 3.85) but that they carry two different mutant haplotypes.
|
11163284 |
2001 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Several deleting or truncating mutations as well as missense mutations of the parkin gene were associated with early-onset parkinsonism.
|
11222788 |
2001 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations.
|
11222808 |
2001 |
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
CTD_human |
Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36.
|
11254447 |
2001 |
Parkinsonian Disorders
|
0.500 |
Therapeutic
|
group |
CTD_human |
Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36.
|
11254447 |
2001 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene.
|
11261512 |
2001 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism.
|
11487568 |
2001 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The authors report an Italian family with pseudo-dominant inheritance of parkinsonism attributable to parkin gene mutations.
|
11552035 |
2001 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
These data suggest that compound heterozygous parkin mutations and loss of parkin protein may lead to early-onset parkinsonism with Lewy body pathology, while a hemizygous mutation may confer increased susceptibility to typical Parkinson's disease.
|
11558785 |
2001 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Three parkin gene mutations in a sibship with autosomal recessive early onset parkinsonism.
|
11561042 |
2001 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
In conclusion, we described a new PARKIN truncating mutation associated with an early onset parkinsonism, and the presence of foot dystonia as the initial symptom.
|
11684352 |
2001 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Thus, parkinsonism in parkin gene carriers may be related to abnormal nigral protein accumulation in the presence of a suprathreshold enzyme dysfunction.
|
11911988 |
2002 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The parkin gene on chromosome 6q and loci on chromosome 1p35-36 and 1p36 are responsible for some cases of autosomal recessive early-onset parkinsonism, but they do not appear to influence susceptibility or variability of age at onset for idiopathic PD.
|
11920285 |
2002 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
LHGDN |
Effect of wild-type or mutant Parkin on oxidative damage, nitric oxide, antioxidant defenses, and the proteasome.
|
12034719 |
2002 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in Park2 gene account for 38% of the families with recessive parkinsonism in Spain.
|
12056932 |
2002 |