MovDisordV3, PubMed, Corpus, bibRecord, 000247

Novel compound heterozygous mutations in PRKRA cause pure dystonia.

Identifieur interne : 000247 ( PubMed/Corpus ); précédent : 000246; suivant : 000248

Novel compound heterozygous mutations in PRKRA cause pure dystonia.

Auteurs : Patricia De Carvalho Aguiar ; Vanderci Borges ; Henrique Ballalai Ferraz ; Laurie Jean Ozelius

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2015.

RBID : pubmed:25737287

English descriptors

KwdEn :
- DNA Copy Number Variations (genetics), Dystonic Disorders (genetics), Exome (genetics), Family Health, Female, Humans, Male, RNA-Binding Proteins (genetics).
MESH :
- chemical , genetics : RNA-Binding Proteins.
- genetics : DNA Copy Number Variations, Dystonic Disorders, Exome.
- Family Health, Female, Humans, Male.

DOI: 10.1002/mds.26175
PubMed: 25737287

Links to Exploration step

pubmed:25737287

Le document en format XML

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<author><name sortKey="De Carvalho Aguiar, Patricia" sort="De Carvalho Aguiar, Patricia" uniqKey="De Carvalho Aguiar P" first="Patricia" last="De Carvalho Aguiar">Patricia De Carvalho Aguiar</name>
<affiliation><nlm:affiliation>Hospital Israelita Albert Einstein, Sao Paulo, SP, Brazil.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Borges, Vanderci" sort="Borges, Vanderci" uniqKey="Borges V" first="Vanderci" last="Borges">Vanderci Borges</name>
<affiliation><nlm:affiliation>Universidade Federal de Sao Paulo, Department of Neurology and Neurosurgery, Sao Paulo, SP, Brazil.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Ferraz, Henrique Ballalai" sort="Ferraz, Henrique Ballalai" uniqKey="Ferraz H" first="Henrique Ballalai" last="Ferraz">Henrique Ballalai Ferraz</name>
<affiliation><nlm:affiliation>Universidade Federal de Sao Paulo, Department of Neurology and Neurosurgery, Sao Paulo, SP, Brazil.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Ozelius, Laurie Jean" sort="Ozelius, Laurie Jean" uniqKey="Ozelius L" first="Laurie Jean" last="Ozelius">Laurie Jean Ozelius</name>
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<ArticleTitle>Novel compound heterozygous mutations in PRKRA cause pure dystonia.</ArticleTitle>
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<CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Lancet Neurol. 2008 Mar;7(3):207-15</RefSource>
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<CommentsCorrections RefType="Cites"><RefSource>Lancet Neurol. 2008 May;7(5):380-1</RefSource>
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<CommentsCorrections RefType="Cites"><RefSource>Mov Disord. 2010 Dec 15;25(16):2854-7</RefSource>
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<CommentsCorrections RefType="Cites"><RefSource>Mov Disord. 2013 Dec;28(14):1937-8</RefSource>
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<CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2014 Mar;46(3):310-5</RefSource>
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<CommentsCorrections RefType="Cites"><RefSource>Mov Disord. 2014 Oct;29(12):1504-10</RefSource>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Novel compound heterozygous mutations in PRKRA cause pure dystonia.

Novel compound heterozygous mutations in PRKRA cause pure dystonia.

Source :

English descriptors

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki