ParkinsonFranceV1, Main, Exploration, bibRecordById, pubmed:23640770

Isolated generalized dystonia in biallelic missense mutations of the ATM gene

Identifieur interne : 000E66 ( Main/Exploration ); précédent : 000E65; suivant : 000E67

Isolated generalized dystonia in biallelic missense mutations of the ATM gene

Auteurs : Wassilios G. Meissner [France] ; Marie Fernet [France] ; Jérôme Couturier [France] ; Janet Hall [France] ; Anthony Laugé [France] ; Patrick Henry [France] ; Dominique Stoppa-Lyonnet [France] ; François Tison [France]

Source :

Movement Disorders [ 0885-3185 ] ; 2013-11.

RBID : ISTEX:888F916303ABF7F1F8E4DB96EA6300752BA23C0E

English descriptors

KwdEn :
- Ataxia Telangiectasia Mutated Proteins (genetics), Dystonia (genetics), Family Health, Female, Humans, Male, Mutation, Missense (genetics).
MESH :
- chemical , genetics : Ataxia Telangiectasia Mutated Proteins.
- genetics : Dystonia, Mutation, Missense.
- Family Health, Female, Humans, Male.

Url:

https://api.istex.fr/document/888F916303ABF7F1F8E4DB96EA6300752BA23C0E/fulltext/pdf

DOI: 10.1002/mds.25487

Affiliations:

Le document en format XML

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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 Yonnet, Dominique" sort="Stoppa Yonnet, Dominique" uniqKey="Stoppa Yonnet 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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<wicri:regionArea>Université Paris Descartes, Paris, Sorbonne Paris Cité</wicri:regionArea>
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La maladie de Parkinson en France (serveur d'exploration)

Isolated generalized dystonia in biallelic missense mutations of the ATM gene

Isolated generalized dystonia in biallelic missense mutations of the ATM gene

Source :

English descriptors

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Le document en format XML

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	La maladie de Parkinson en France (serveur d'exploration)
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