(Q34218728)

31 July 2017

title

How much phenotypic variation can be attributed to parkin genotype? (English)

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31 July 2017

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Yves Agid

French Parkinson's Disease Genetics Study Group

21

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object named as

French Parkinson's Disease Genetics Study Group

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Thomas Gasser

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Marie Vidailhet

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Valérie Fraix

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Olivier Rascol

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Giuseppe Meco

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Vincenzo Bonifati

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Alexandra Durr

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Emmanuel Broussolle

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Ebba Lohmann

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Merle Ruberg

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Alain Destée

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Anne-Marie Bonnet

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European Consortium on Genetic Susceptibility in Parkinson's Disease

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object named as

European Consortium on Genetic Susceptibility in Parkinson's Disease

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Magali Periquet

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Salmo Raskin

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Hélio Teive

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Nick W Wood

4

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Giuseppe De Michele

5

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Martin W I M Horstink

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Patrice Verpillat

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David Nicholl

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Francesca Gasparini

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publication date

1 August 2003

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31 July 2017

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volume

54

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31 July 2017

issue

2

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31 July 2017

page(s)

176-185

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Mutation in the alpha-synuclein gene identified in families with Parkinson's disease

31 July 2017

cites work

1 reference

Mutations in NR4A2 associated with familial Parkinson disease

21 January 2018

1 reference

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

21 January 2018

1 reference

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

21 January 2018

1 reference

A susceptibility locus for Parkinson's disease maps to chromosome 2p13.

21 January 2018

1 reference

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

21 January 2018

1 reference

A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1.

21 January 2018

1 reference

A susceptibility gene for late-onset idiopathic Parkinson's disease

21 January 2018

1 reference

AlaSOPro mutation in the gene encoding α-synuclein in Parkinson's disease

21 January 2018

1 reference

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

21 January 2018

1 reference

Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations

21 January 2018

1 reference

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

21 January 2018

1 reference

Steele-Richardson-Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein.

21 January 2018

1 reference

Lewy bodies and parkinsonism in families with parkin mutations

21 January 2018

1 reference

Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase

21 January 2018

1 reference

Parkin suppresses unfolded protein stress-induced cell death through its E3 ubiquitin-protein ligase activity

21 January 2018

1 reference

Parkin functions as an E2-dependent ubiquitin- protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1

21 January 2018

1 reference

Linkage stratification and mutation analysis at the Parkin locus identifies mutation positive Parkinson's disease families

21 January 2018

1 reference

Parkin mutations in a patient with hemiparkinsonism-hemiatrophy: a clinical-genetic and PET study

21 January 2018

1 reference

Homozygous deletion mutation of the parkin gene in patients with atypical parkinsonism

21 January 2018

1 reference

Chromosome 6-linked autosomal recessive early-onset Parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. The French Parkinson's Disease Genetics Study

21 January 2018

1 reference

Complex relationship between Parkin mutations and Parkinson disease

21 January 2018

1 reference

Three parkin gene mutations in a sibship with autosomal recessive early onset parkinsonism

21 January 2018

1 reference

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

21 January 2018

1 reference

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 January 2018

1 reference

Functional association of the parkin gene promoter with idiopathic Parkinson's disease

21 January 2018

1 reference

Paralysis agitans of early onset with marked diurnal fluctuation of symptoms

21 January 2018

1 reference

Early onset parkinsonism with diurnal fluctuation maps to a locus for juvenile parkinsonism

21 January 2018

1 reference

Autosomal recessive early-onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and molecular genetic identification

21 January 2018

1 reference

Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations

21 January 2018

1 reference

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

21 January 2018

1 reference

Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: mutation of Parkin gene

21 January 2018

1 reference

A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia.

21 January 2018

1 reference

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 January 2018

1 reference

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

21 January 2018

1 reference

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

21 January 2018

1 reference

A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor

21 January 2018

1 reference

A new mutation in the parkin gene in a patient with atypical autosomal recessive juvenile parkinsonism

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.10613

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31 July 2017

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