How much phenotypic variation can be attributed to parkin genotype? (Q34218728)

31 July 2017

title

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

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French Parkinson's Disease Genetics Study Group

31 July 2017

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object named as

French Parkinson's Disease Genetics Study Group

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31 July 2017

Thomas Gasser

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31 July 2017

Marie Vidailhet

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31 July 2017

Valérie Fraix

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31 July 2017

Olivier Rascol

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Giuseppe Meco

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31 July 2017

Vincenzo Bonifati

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Alexandra Durr

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31 July 2017

Emmanuel Broussolle

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31 July 2017

Ebba Lohmann

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Merle Ruberg

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31 July 2017

Alain Destée

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31 July 2017

Anne-Marie Bonnet

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European Consortium on Genetic Susceptibility in Parkinson's Disease

31 July 2017

object named as

European Consortium on Genetic Susceptibility in Parkinson's Disease

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31 July 2017

Magali Periquet

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31 July 2017

Salmo Raskin

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31 July 2017

Hélio Teive

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31 July 2017

Nick W Wood

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31 July 2017

Giuseppe De Michele

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31 July 2017

Martin W I M Horstink

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31 July 2017

Patrice Verpillat

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31 July 2017

David Nicholl

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31 July 2017

Francesca Gasparini

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31 July 2017

publication date

1 August 2003

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31 July 2017

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31 July 2017

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31 July 2017

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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

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Mutations in NR4A2 associated with familial Parkinson disease

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Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

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

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

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

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

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

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Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease

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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Lewy bodies and parkinsonism in families with parkin mutations

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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Complex relationship between Parkin mutations and Parkinson disease

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

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

21 January 2018

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Paralysis agitans of early onset with marked diurnal fluctuation of symptoms

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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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

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

21 January 2018

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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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