(Q33393439)

26 July 2017

title

Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism (English)

1 reference

26 July 2017

1 reference

parkinsonian syndrome

1 reference

Ronny Myhre

1

1 reference

26 July 2017

Stina Steinkjer

2

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26 July 2017

Alice Stormyr

3

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26 July 2017

Gina L Nilsen

4

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26 July 2017

Hiba Abu Zayyad

5

1 reference

26 July 2017

Khalid Horany

6

1 reference

26 July 2017

Mohamad K Nusier

7

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26 July 2017

Helge Klungland

8

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26 July 2017

publication date

16 December 2008

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26 July 2017

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26 July 2017

volume

8

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26 July 2017

page(s)

47

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PINK1 mutation heterozygosity and the risk of Parkinson's disease

26 July 2017

cites work

1 reference

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C-terminal truncation and Parkinson's disease-associated mutations down-regulate the protein serine/threonine kinase activity of PTEN-induced kinase-1.

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Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

21 June 2018

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Exclusion of PINK1 as candidate gene for the late-onset form of Parkinson's disease in two European populations

21 June 2018

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Mutational screening of the parkin gene among South Indians with early onset Parkinson's disease

21 June 2018

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Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism

21 June 2018

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G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients

21 June 2018

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PINK1 (PARK6) associated Parkinson disease in Ireland

21 June 2018

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21 June 2018

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21 June 2018

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PINK1 mutations are associated with sporadic early-onset parkinsonism

21 June 2018

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

21 June 2018

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How much phenotypic variation can be attributed to parkin genotype?

21 June 2018

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Characterization of FRA6E and its potential role in autosomal recessive juvenile parkinsonism and ovarian cancer.

21 June 2018

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PARK6 is a common cause of familial parkinsonism

21 June 2018

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Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

21 June 2018

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Complex relationship between Parkin mutations and Parkinson disease

21 June 2018

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Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36

21 June 2018

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

21 June 2018

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Progress in the clinical and molecular genetics of familial parkinsonism

21 June 2018

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

21 June 2018

1 reference

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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

21 June 2018

1 reference

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Point mutations (Thr240Arg and Gln311Stop) [correction of Thr240Arg and Ala311Stop] in the Parkin gene

21 June 2018

1 reference

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Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

21 June 2018

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Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27

21 June 2018

1 reference

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Familial juvenile parkinsonism: clinical and pathologic study in a family

21 June 2018

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Paralysis agitans of early onset with marked diurnal fluctuation of symptoms

21 June 2018

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Familial aggregation of Parkinson disease: a comparative study of early-onset and late-onset disease

21 June 2018

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Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q.

21 January 2018

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Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism

21 January 2018

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

21 January 2018

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Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism

21 January 2018

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New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism

21 January 2018

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Genetic association study of PINK1 coding polymorphisms in Parkinson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-8-47

Defining the ends of Parkin exon 4 deletions in two different families with Parkinson's disease

21 January 2018

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https://api.crossref.org/works/10.1186%2F1471-2377-8-47

Alterations in the common fragile site gene Parkin in ovarian and other cancers

21 January 2018

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Parkin mutations in familial and sporadic Parkinson's disease among Indians.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-8-47

Molecular pathogenesis of Parkinson's disease: identification of mutations in the Parkin gene in Indian patients.

21 January 2018

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https://api.crossref.org/works/10.1186%2F1471-2377-8-47

Familial Aggregation of Parkinson's Disease in Iceland

21 January 2018

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Familial aggregation of Parkinson's disease: A population-based case-control study in Europe

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-8-47

A novel transactivation domain in parkin

21 January 2018

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https://api.crossref.org/works/10.1186%2F1471-2377-8-47

PARK6-linked parkinsonism occurs in several European families

21 January 2018

2 references

https://api.crossref.org/works/10.1186%2F1471-2377-8-47

21 January 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635385

PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism

31 October 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-8-47

[A 62-year-old woman with early-onset Parkinson's disease associated with the PINKi gene deletion].

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635385

Mutation analysis of PINK1 gene in Chinese patients with autosomal recessive early-onset parkinsonism type 6

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635385

The parkin gene and its phenotype

31 October 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-8-47

Genetics of Parkinson's disease

21 January 2018

1 reference

12 December 2020

Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan

1 reference

12 December 2020

Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa

1 reference

12 December 2020

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

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12 December 2020

A common A340T variant in PINK1 gene associated with late-onset Parkinson's disease in Chinese

1 reference

12 December 2020

Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family

1 reference

12 December 2020

Parkin polymorphisms: risk for Parkinson’s disease in Indian population

1 reference

12 December 2020

Familial Parkinsonism with digenic parkin and PINK1 mutations.

1 reference

12 December 2020

Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease

1 reference

12 December 2020

Young onset Parkinson's disease

1 reference

12 December 2020

Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism.

1 reference

12 December 2020

1 reference

12 December 2020

Deletions in the Parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson's disease

1 reference

12 December 2020

1 reference

12 December 2020

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2377-8-47

1 reference

Dimensions Publication ID

26 July 2017

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2377-8-47

9 September 2019

1 reference

26 July 2017

1 reference