Choreo–ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene
Identifieur interne : 001E00 ( Main/Curation ); précédent : 001D99; suivant : 001E01Choreo–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.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Munc18 Proteins.
- diagnosis : Chorea.
- genetics : Chorea.
- methods : Electroencephalography, Magnetic Resonance Imaging.
- pathology : Brain.
- Child, Humans, Male, Mutation, Missense.
Url:
DOI: 10.1002/mds.23164
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Links to Exploration step
ISTEX:E261B1A6D8C7B95289287D281A37575792379D1FLe document en format XML
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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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<wicri:regionArea>Department of Pediatrics, Yamagata University School of Medicine, Yamagata</wicri:regionArea>
<wicri:noRegion>Yamagata</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Saitsu, Hirotomo" sort="Saitsu, Hirotomo" uniqKey="Saitsu H" first="Hirotomo" last="Saitsu">Hirotomo Saitsu</name>
<affiliation wicri:level="1"><country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama</wicri:regionArea>
<wicri:noRegion>Yokohama</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kurihara, Eiji" sort="Kurihara, Eiji" uniqKey="Kurihara E" first="Eiji" last="Kurihara">Eiji Kurihara</name>
<affiliation wicri:level="3"><country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Matsumoto, Naomichi" sort="Matsumoto, Naomichi" uniqKey="Matsumoto N" first="Naomichi" last="Matsumoto">Naomichi Matsumoto</name>
<affiliation wicri:level="1"><country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama</wicri:regionArea>
<wicri:noRegion>Yokohama</wicri:noRegion>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<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>
<date type="published" when="2010-10-15">2010-10-15</date>
<biblScope unit="vol">25</biblScope>
<biblScope unit="issue">13</biblScope>
<biblScope unit="page" from="2265">2265</biblScope>
<biblScope unit="page" to="2267">2267</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">E261B1A6D8C7B95289287D281A37575792379D1F</idno>
<idno type="DOI">10.1002/mds.23164</idno>
<idno type="ArticleID">MDS23164</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<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>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Munc18 Proteins</term>
</keywords>
<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>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
</TEI>
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