(Q35898027)

11 August 2017

Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study (English)

1 reference

11 August 2017

1 reference

Stanley Fahn

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11 August 2017

Elan D Louis

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11 August 2017

Joseph H Friedman

1 reference

11 August 2017

Caroline M Tanner

1 reference

11 August 2017

Roy N Alcalay

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11 August 2017

Susan Bressman

1 reference

11 August 2017

Helen Mejia-Santana

1 reference

11 August 2017

Karen S Marder

1 reference

11 August 2017

Lucien J Cote

1 reference

11 August 2017

Lorraine N Clark

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11 August 2017

Ming X Tang

1 reference

11 August 2017

Cynthia L Comella

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11 August 2017

William K Scott

1 reference

11 August 2017

Llency Rosado

1 reference

11 August 2017

Amy Colcher

1 reference

11 August 2017

Andrew D Siderowf

1 reference

11 August 2017

Danna Jennings

1 reference

11 August 2017

Martha A Nance

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11 August 2017

Susan F Mickel

1 reference

11 August 2017

Howard F Andrews

1 reference

11 August 2017

Cheryl Waters

1 reference

11 August 2017

Barbara M Ross

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11 August 2017

Steven Frucht

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11 August 2017

Blair Ford

1 reference

11 August 2017

Michael Rezak

1 reference

11 August 2017

Kevin Novak

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11 August 2017

Ronald F Pfeiffer

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11 August 2017

Laura Marsh

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11 August 2017

Brad Hiner

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11 August 2017

Gregory D Neils

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11 August 2017

Miguel Verbitsky

1 reference

11 August 2017

Sergey Kisselev

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11 August 2017

Elise Caccappolo

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11 August 2017

Ruth Ottman

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11 August 2017

1 June 2010

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11 August 2017

Archives of Neurology

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11 August 2017

1 reference

11 August 2017

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11 August 2017

731-738

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

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

Parkinson's disease and residential exposure to maneb and paraquat from agricultural applications in the central valley of California

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

Impact of recent genetic findings in Parkinson's disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

Deciphering the role of heterozygous mutations in genes associated with parkinsonism

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

Distribution, type, and origin of Parkin mutations: review and case studies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

How much phenotypic variation can be attributed to parkin genotype?

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

Accuracy of family history data on Parkinson's disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

SIFT: Predicting amino acid changes that affect protein function

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

Complex relationship between Parkin mutations and Parkinson disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

The nigrostriatal dopaminergic system in familial early onset parkinsonism with parkin mutations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

Influence of education and occupation on the incidence of Alzheimer's disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

Genetic screening reveals high frequency of PARK2 mutations and reduced Parkin expression conferring risk for Parkinsonism in North West India

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

Striatal and cortical pre- and postsynaptic dopaminergic dysfunction in sporadic parkin-linked parkinsonism

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

Parkin mutations are frequent in patients with isolated early-onset parkinsonism

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

The APOE-epsilon4 allele and the risk of Alzheimer disease among African Americans, whites, and Hispanics

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

Clinical Features and Gene Analysis in Korean Patients With Early-Onset Parkinson Disease

14 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

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

14 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3329757

Role of parkin mutations in 111 community-based patients with early-onset parkinsonism

14 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset

1 reference

12 December 2020

Parkinson disease(s): is "Parkin disease" a distinct clinical entity?

1 reference

12 December 2020

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

1 reference

12 December 2020

[18 F]-dopa PET study in patients with juvenile-onset PD and parkin gene mutations

1 reference

12 December 2020

Familial aggregation of early- and late-onset Parkinson's disease

1 reference

12 December 2020

Lack of Familial Aggregation of Parkinson Disease and Alzheimer Disease

1 reference

12 December 2020

10.1001/ARCHNEUROL.2010.95

Identifiers

DOI

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

20558392

1 reference