MovDisordV3, Main, Exploration, bibRecord, 001E00

Choreo–ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene

Identifieur interne : 001E00 ( Main/Exploration ); précédent : 001D99; suivant : 001E01

Choreo–ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene

Auteurs : Kyoko Kanazawa [Japon] ; Satoko Kumada [Japon] ; Mitsuhiro Kato [Japon] ; Hirotomo Saitsu [Japon] ; Eiji Kurihara [Japon] ; Naomichi Matsumoto [Japon]

Source :

Movement Disorders [ 0885-3185 ] ; 2010-10-15.

RBID : ISTEX:E261B1A6D8C7B95289287D281A37575792379D1F

Descripteurs français

Pascal (Inist)
- Mutation faux sens, Pathologie du système nerveux, Protéine liaison.

English descriptors

KwdEn :
- Binding protein, Brain (pathology), Child, Chorea (diagnosis), Chorea (genetics), Electroencephalography (methods), Humans, Magnetic Resonance Imaging (methods), Male, Missense mutation, Munc18 Proteins (genetics), Mutation, Missense, Nervous system diseases.
MESH :
- chemical , genetics : Munc18 Proteins.
- diagnosis : Chorea.
- genetics : Chorea.
- methods : Electroencephalography, Magnetic Resonance Imaging.
- pathology : Brain.
- Child, Humans, Male, Mutation, Missense.

Url:

https://api.istex.fr/document/E261B1A6D8C7B95289287D281A37575792379D1F/fulltext/pdf

DOI: 10.1002/mds.23164

Affiliations:

Japon
Tokyo

Le document en format XML

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<author><name sortKey="Kanazawa, Kyoko" sort="Kanazawa, Kyoko" uniqKey="Kanazawa K" first="Kyoko" last="Kanazawa">Kyoko Kanazawa</name>
</author>
<author><name sortKey="Kumada, Satoko" sort="Kumada, Satoko" uniqKey="Kumada S" first="Satoko" last="Kumada">Satoko Kumada</name>
</author>
<author><name sortKey="Kato, Mitsuhiro" sort="Kato, Mitsuhiro" uniqKey="Kato M" first="Mitsuhiro" last="Kato">Mitsuhiro Kato</name>
</author>
<author><name sortKey="Saitsu, Hirotomo" sort="Saitsu, Hirotomo" uniqKey="Saitsu H" first="Hirotomo" last="Saitsu">Hirotomo Saitsu</name>
</author>
<author><name sortKey="Kurihara, Eiji" sort="Kurihara, Eiji" uniqKey="Kurihara E" first="Eiji" last="Kurihara">Eiji Kurihara</name>
</author>
<author><name sortKey="Matsumoto, Naomichi" sort="Matsumoto, Naomichi" uniqKey="Matsumoto N" first="Naomichi" last="Matsumoto">Naomichi Matsumoto</name>
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<wicri:regionArea>Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo</wicri:regionArea>
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<author><name sortKey="Kumada, Satoko" sort="Kumada, Satoko" uniqKey="Kumada S" first="Satoko" last="Kumada">Satoko Kumada</name>
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<wicri:regionArea>Department of Pediatrics, Yamagata University School of Medicine, Yamagata</wicri:regionArea>
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<author><name sortKey="Kato, Mitsuhiro" sort="Kato, Mitsuhiro" uniqKey="Kato M" first="Mitsuhiro" last="Kato">Mitsuhiro Kato</name>
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<author><name sortKey="Saitsu, Hirotomo" sort="Saitsu, Hirotomo" uniqKey="Saitsu H" first="Hirotomo" last="Saitsu">Hirotomo Saitsu</name>
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<wicri:regionArea>Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama</wicri:regionArea>
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<author><name sortKey="Kurihara, Eiji" sort="Kurihara, Eiji" uniqKey="Kurihara E" first="Eiji" last="Kurihara">Eiji Kurihara</name>
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<author><name sortKey="Matsumoto, Naomichi" sort="Matsumoto, Naomichi" uniqKey="Matsumoto N" first="Naomichi" last="Matsumoto">Naomichi Matsumoto</name>
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<series><title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
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<term>Child</term>
<term>Chorea (diagnosis)</term>
<term>Chorea (genetics)</term>
<term>Electroencephalography (methods)</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging (methods)</term>
<term>Male</term>
<term>Missense mutation</term>
<term>Munc18 Proteins (genetics)</term>
<term>Mutation, Missense</term>
<term>Nervous system diseases</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Munc18 Proteins</term>
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<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Chorea</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chorea</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Electroencephalography</term>
<term>Magnetic Resonance Imaging</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Child</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation, Missense</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Mutation faux sens</term>
<term>Pathologie du   système nerveux</term>
<term>Protéine liaison</term>
</keywords>
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<tree><country name="Japon"><noRegion><name sortKey="Kanazawa, Kyoko" sort="Kanazawa, Kyoko" uniqKey="Kanazawa K" first="Kyoko" last="Kanazawa">Kyoko Kanazawa</name>
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<name sortKey="Kato, Mitsuhiro" sort="Kato, Mitsuhiro" uniqKey="Kato M" first="Mitsuhiro" last="Kato">Mitsuhiro Kato</name>
<name sortKey="Kumada, Satoko" sort="Kumada, Satoko" uniqKey="Kumada S" first="Satoko" last="Kumada">Satoko Kumada</name>
<name sortKey="Kurihara, Eiji" sort="Kurihara, Eiji" uniqKey="Kurihara E" first="Eiji" last="Kurihara">Eiji Kurihara</name>
<name sortKey="Matsumoto, Naomichi" sort="Matsumoto, Naomichi" uniqKey="Matsumoto N" first="Naomichi" last="Matsumoto">Naomichi Matsumoto</name>
<name sortKey="Saitsu, Hirotomo" sort="Saitsu, Hirotomo" uniqKey="Saitsu H" first="Hirotomo" last="Saitsu">Hirotomo Saitsu</name>
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Movement Disorders (revue)

Choreo–ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene

Choreo–ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene

Source :

Descripteurs français

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.