MovDisordV3, Main, Exploration, bibRecord, 002265

Identification of a novel THAP1 mutation at R29 amino‐acid residue in sporadic patients with early‐onset dystonia

Identifieur interne : 002265 ( Main/Exploration ); précédent : 002264; suivant : 002266

Identification of a novel THAP1 mutation at R29 amino‐acid residue in sporadic patients with early‐onset dystonia

Auteurs : Coro Paisán-Ruiz [Royaume-Uni] ; Javier Ruiz-Martinez [Espagne] ; Marta Ruibal [Espagne] ; Kin Y. Mok [Royaume-Uni] ; Begona Indakoetxea [Espagne] ; Ana Gorostidi [Espagne] ; José F. Martí Mass [Espagne]

Source :

Movement Disorders [ 0885-3185 ] ; 2009-12-15.

RBID : ISTEX:DADCD3DEEE2B032DD585E670D72E91358EB2E452

English descriptors

KwdEn :
- Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Apoptosis Regulatory Proteins (genetics), Arginine (genetics), Child, DNA-Binding Proteins (genetics), Dystonia (genetics), Exons (genetics), Female, Humans, Male, Middle Aged, Mutation (genetics), Nuclear Proteins (genetics), Young Adult.
MESH :
- chemical , genetics : Apoptosis Regulatory Proteins, Arginine, DNA-Binding Proteins, Nuclear Proteins.
- genetics : Dystonia, Exons, Mutation.
- Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Child, Female, Humans, Male, Middle Aged, Young Adult.

Url:

https://api.istex.fr/document/DADCD3DEEE2B032DD585E670D72E91358EB2E452/fulltext/pdf

DOI: 10.1002/mds.22849

Affiliations:

Le document en format XML

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<author><name sortKey="Paisan Uiz, Coro" sort="Paisan Uiz, Coro" uniqKey="Paisan Uiz C" first="Coro" last="Paisán-Ruiz">Coro Paisán-Ruiz</name>
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<author><name sortKey="Ruiz Artinez, Javier" sort="Ruiz Artinez, Javier" uniqKey="Ruiz Artinez J" first="Javier" last="Ruiz-Martinez">Javier Ruiz-Martinez</name>
</author>
<author><name sortKey="Ruibal, Marta" sort="Ruibal, Marta" uniqKey="Ruibal M" first="Marta" last="Ruibal">Marta Ruibal</name>
</author>
<author><name sortKey="Mok, Kin Y" sort="Mok, Kin Y" uniqKey="Mok K" first="Kin Y." last="Mok">Kin Y. Mok</name>
</author>
<author><name sortKey="Indakoetxea, Begona" sort="Indakoetxea, Begona" uniqKey="Indakoetxea B" first="Begona" last="Indakoetxea">Begona Indakoetxea</name>
</author>
<author><name sortKey="Gorostidi, Ana" sort="Gorostidi, Ana" uniqKey="Gorostidi A" first="Ana" last="Gorostidi">Ana Gorostidi</name>
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<author><name sortKey="Mass, Jose F Marti" sort="Mass, Jose F Marti" uniqKey="Mass J" first="José F. Martí" last="Mass">José F. Martí Mass</name>
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<author><name sortKey="Ruibal, Marta" sort="Ruibal, Marta" uniqKey="Ruibal M" first="Marta" last="Ruibal">Marta Ruibal</name>
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<author><name sortKey="Mok, Kin Y" sort="Mok, Kin Y" uniqKey="Mok K" first="Kin Y." last="Mok">Kin Y. Mok</name>
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<author><name sortKey="Indakoetxea, Begona" sort="Indakoetxea, Begona" uniqKey="Indakoetxea B" first="Begona" last="Indakoetxea">Begona Indakoetxea</name>
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<series><title level="j">Movement Disorders</title>
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<idno type="ISSN">0885-3185</idno>
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<term>Aged, 80 and over</term>
<term>Apoptosis Regulatory Proteins (genetics)</term>
<term>Arginine (genetics)</term>
<term>Child</term>
<term>DNA-Binding Proteins (genetics)</term>
<term>Dystonia (genetics)</term>
<term>Exons (genetics)</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation (genetics)</term>
<term>Nuclear Proteins (genetics)</term>
<term>Young Adult</term>
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<term>Arginine</term>
<term>DNA-Binding Proteins</term>
<term>Nuclear Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term>
<term>Exons</term>
<term>Mutation</term>
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<term>Adult</term>
<term>Age of Onset</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Child</term>
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<name sortKey="Mok, Kin Y" sort="Mok, Kin Y" uniqKey="Mok K" first="Kin Y." last="Mok">Kin Y. Mok</name>
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<country name="Espagne"><noRegion><name sortKey="Ruiz Artinez, Javier" sort="Ruiz Artinez, Javier" uniqKey="Ruiz Artinez J" first="Javier" last="Ruiz-Martinez">Javier Ruiz-Martinez</name>
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<name sortKey="Gorostidi, Ana" sort="Gorostidi, Ana" uniqKey="Gorostidi A" first="Ana" last="Gorostidi">Ana Gorostidi</name>
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Movement Disorders (revue)

Identification of a novel THAP1 mutation at R29 amino‐acid residue in sporadic patients with early‐onset dystonia

Identification of a novel THAP1 mutation at R29 amino‐acid residue in sporadic patients with early‐onset dystonia

Source :

English descriptors

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.