Choreo-ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene.
Identifieur interne : 001632 ( PubMed/Curation ); précédent : 001631; suivant : 001633Choreo-ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene.
Auteurs : Kyoko Kanazawa ; Satoko Kumada ; Mitsuhiro Kato ; Hirotomo Saitsu ; Eiji Kurihara ; Naomichi MatsumotoSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Munc18 Proteins.
- diagnosis : Chorea.
- genetics : Chorea.
- methods : Electroencephalography, Magnetic Resonance Imaging.
- pathology : Brain.
- Child, Humans, Male, Mutation, Missense.
DOI: 10.1002/mds.23164
PubMed: 20721912
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pubmed:20721912Le 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>
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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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<author><name sortKey="Kanazawa, Kyoko" sort="Kanazawa, Kyoko" uniqKey="Kanazawa K" first="Kyoko" last="Kanazawa">Kyoko Kanazawa</name>
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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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<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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<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 : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2010" type="published">2010</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Brain (pathology)</term>
<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>Munc18 Proteins (genetics)</term>
<term>Mutation, Missense</term>
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<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>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chorea</term>
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<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Electroencephalography</term>
<term>Magnetic Resonance Imaging</term>
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<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term>
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<term>Humans</term>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
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<ArticleTitle>Choreo-ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene.</ArticleTitle>
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