A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2 (Q30497782)

4 October 2017

A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2 (English)

1 reference

4 October 2017

1

1 reference

PubMed publication ID

22 June 2017

5

1 reference

PubMed publication ID

22 June 2017

6

S A Factor

1 reference

4 October 2017

19

H Payami

1 reference

4 October 2017

C F Stevens

2

1 reference

4 October 2017

T H Hamza

3

1 reference

4 October 2017

J S Montimurro

4

1 reference

4 October 2017

A Samii

7

1 reference

4 October 2017

A Griffith

8

1 reference

4 October 2017

J W Roberts

9

1 reference

4 October 2017

E S Molho

10

1 reference

4 October 2017

D S Higgins

11

1 reference

4 October 2017

S Gancher

12

1 reference

4 October 2017

L Moses

13

1 reference

4 October 2017

S Zareparsi

14

1 reference

4 October 2017

P Poorkaj

15

1 reference

4 October 2017

T Bird

16

1 reference

4 October 2017

J Nutt

17

1 reference

4 October 2017

G D Schellenberg

18

1 reference

4 October 2017

language of work or name

English

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publication date

1 September 2010

1 reference

4 October 2017

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4 October 2017

75

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4 October 2017

13

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4 October 2017

1189-1194

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Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies

4 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013490

Detecting purely epistatic multi-locus interactions by an omnibus permutation test on ensembles of two-locus analyses

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013490

Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013490

Visualizing disease associations: graphic analysis of frequency distributions as a function of age using moving average plots (MAP) with application to Alzheimer's and Parkinson's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013490

Parkin promotes intracellular Abeta1-42 clearance

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013490

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013490

Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013490

Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013490

Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013490

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013490

Susceptibility to leprosy is associated with PARK2 and PACRG.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013490

Parkin, a gene implicated in autosomal recessive juvenile parkinsonism, is a candidate tumor suppressor gene on chromosome 6q25-q27

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013490

The genomic structure and promoter region of the human parkin gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013490

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013490

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013490

The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013490

Genetic association between α-synuclein and idiopathic parkinson's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013490

Combined effects of smoking, coffee, and NSAIDs on Parkinson's disease risk

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013490

Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013490

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013490

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013490

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013490

parkin mutation analysis in clinic patients with early-onset Parkinson [corrected] disease.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013490

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013490

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013490

Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification

26 November 2018

1 reference

12 December 2020

Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil

1 reference

12 December 2020

Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Parkin gene variations in late-onset Parkinson's disease: comparison between Norwegian and German cohorts

1 reference

12 December 2020

10.1212/WNL.0B013E3181F4D832

Identifiers

DOI

1 reference

release_5ccrui5xtzcftet2ofdb6sg7bm

4 October 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/5ccrui5xtzcftet2ofdb6sg7bm

24 November 2022

mapped directly with Wikidata item

1 reference

4 October 2017

PubMed publication ID

20876472

1 reference