Isolated generalized dystonia in biallelic missense mutations of the ATM gene.
Identifieur interne : 000671 ( PubMed/Corpus ); précédent : 000670; suivant : 000672Isolated generalized dystonia in biallelic missense mutations of the ATM gene.
Auteurs : Wassilios G. Meissner ; Marie Fernet ; Jérôme Couturier ; Janet Hall ; Anthony Laugé ; Patrick Henry ; Dominique Stoppa-Lyonnet ; François TisonSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Ataxia Telangiectasia Mutated Proteins.
- genetics : Dystonia, Mutation, Missense.
- Family Health, Female, Humans, Male.
DOI: 10.1002/mds.25487
PubMed: 23640770
Links to Exploration step
pubmed:23640770Le document en format XML
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<author><name sortKey="Meissner, Wassilios G" sort="Meissner, Wassilios G" uniqKey="Meissner W" first="Wassilios G" last="Meissner">Wassilios G. Meissner</name>
<affiliation><nlm:affiliation>Service de Neurologie, Centre Expert Parkinson et Centre Maladie Rare Atrophie Multisystématisée, Centre Hospitalier Universitaire de Bordeaux, Pessac, France; Institut des Maladies Neurodégénératives, Unité Mixte de Recherche (UMR) 5293, University de Bordeaux, Bordeaux, France; Le Centre National de la Recherche Scientifique, Institut des Maladies Neurodégénératives, UMR 5293, Bordeaux, France.</nlm:affiliation>
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<author><name sortKey="Fernet, Marie" sort="Fernet, Marie" uniqKey="Fernet M" first="Marie" last="Fernet">Marie Fernet</name>
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<author><name sortKey="Couturier, Jerome" sort="Couturier, Jerome" uniqKey="Couturier J" first="Jérôme" last="Couturier">Jérôme Couturier</name>
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<author><name sortKey="Hall, Janet" sort="Hall, Janet" uniqKey="Hall J" first="Janet" last="Hall">Janet Hall</name>
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<author><name sortKey="Lauge, Anthony" sort="Lauge, Anthony" uniqKey="Lauge A" first="Anthony" last="Laugé">Anthony Laugé</name>
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<author><name sortKey="Henry, Patrick" sort="Henry, Patrick" uniqKey="Henry P" first="Patrick" last="Henry">Patrick Henry</name>
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<author><name sortKey="Stoppa Lyonnet, Dominique" sort="Stoppa Lyonnet, Dominique" uniqKey="Stoppa Lyonnet D" first="Dominique" last="Stoppa-Lyonnet">Dominique Stoppa-Lyonnet</name>
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<author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name>
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<term>Humans</term>
<term>Male</term>
<term>Mutation, Missense (genetics)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ataxia Telangiectasia Mutated Proteins</term>
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<term>Mutation, Missense</term>
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<ArticleTitle>Isolated generalized dystonia in biallelic missense mutations of the ATM gene.</ArticleTitle>
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