Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control (Q36617539)

15 August 2017

Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control (English)

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15 August 2017

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6

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15 August 2017

4

C Paisan-Ruiz

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author name string

J Brooks

1

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15 August 2017

J Ding

2

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15 August 2017

J Simon-Sanchez

3

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15 August 2017

A B Singleton

5

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15 August 2017

language of work or name

English

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publication date

6 April 2009

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Journal of Medical Genetics

15 August 2017

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15 August 2017

46

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15 August 2017

6

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15 August 2017

375-381

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Loss of PINK1 causes mitochondrial functional defects and increased sensitivity to oxidative stress

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

PINK1 is necessary for long term survival and mitochondrial function in human dopaminergic neurons

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

Mutation analysis of the PINK1 gene in 391 patients with Parkinson disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

Susceptibility genes in movement disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

Disabled-1 is a large common fragile site gene, inactivated in multiple cancers

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

PLINK: a tool set for whole-genome association and population-based linkage analyses

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

Deciphering the role of heterozygous mutations in genes associated with parkinsonism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

Novel parkin mutations detected in patients with early-onset Parkinson's disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

PINK1 mutations are associated with sporadic early-onset parkinsonism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

Association between early-onset Parkinson's disease and mutations in the parkin gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

Morphometric fingerprint of asymptomatic Parkin and PINK1 mutation carriers in the basal ganglia.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

Drosophila overexpressing parkin R275W mutant exhibits dopaminergic neuron degeneration and mitochondrial abnormalities.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

Case-control study of the parkin gene in early-onset Parkinson disease

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

Parkin variants in North American Parkinson's disease: cases and controls.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: evidence for enzymatic parkin function in humans

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

Subclinical sensory abnormalities in unaffected PINK1 heterozygotes

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

Heterozygousparkinpoint mutations are as common in control subjects as in Parkinson's patients

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

Parkin mutations and susceptibility alleles in late-onset Parkinson's disease

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767009

Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease

4 December 2018

1 reference

12 December 2020

Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia

1 reference

12 December 2020

Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease?

1 reference

12 December 2020

Association of codon 167 Ser/Asn heterozygosity in the parkin gene with sporadic Parkinson's disease

1 reference

12 December 2020

The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism

1 reference

12 December 2020

Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations

1 reference

12 December 2020

A heterozygous effect for PINK1 mutations in Parkinson's disease?

1 reference

12 December 2020

Genomewide SNP assay reveals mutations underlying Parkinson disease

1 reference

12 December 2020

Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2008.063917

1 reference

15 August 2017

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15 August 2017

PubMed publication ID

19351622

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