Sacsin-related ataxia with neither retinal hypermyelination nor spasticity.
Identifieur interne : 002719 ( PubMed/Corpus ); précédent : 002718; suivant : 002720Sacsin-related ataxia with neither retinal hypermyelination nor spasticity.
Auteurs : Kenju Hara ; Junsuke Shimbo ; Hiroaki Nozaki ; Koki Kikugawa ; Osamu Onodera ; Masatoyo NishizawaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2007.
English descriptors
- KwdEn :
- MESH :
- chemical : Heat-Shock Proteins.
- complications : Ataxia.
- etiology : Muscle Spasticity.
- genetics : Ataxia.
- methods : Magnetic Resonance Imaging.
- pathology : Ataxia, Nerve Fibers, Myelinated, Retina.
- Humans, Male, Middle Aged.
DOI: 10.1002/mds.21557
PubMed: 17516465
Links to Exploration step
pubmed:17516465Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Sacsin-related ataxia with neither retinal hypermyelination nor spasticity.</title>
<author><name sortKey="Hara, Kenju" sort="Hara, Kenju" uniqKey="Hara K" first="Kenju" last="Hara">Kenju Hara</name>
</author>
<author><name sortKey="Shimbo, Junsuke" sort="Shimbo, Junsuke" uniqKey="Shimbo J" first="Junsuke" last="Shimbo">Junsuke Shimbo</name>
</author>
<author><name sortKey="Nozaki, Hiroaki" sort="Nozaki, Hiroaki" uniqKey="Nozaki H" first="Hiroaki" last="Nozaki">Hiroaki Nozaki</name>
</author>
<author><name sortKey="Kikugawa, Koki" sort="Kikugawa, Koki" uniqKey="Kikugawa K" first="Koki" last="Kikugawa">Koki Kikugawa</name>
</author>
<author><name sortKey="Onodera, Osamu" sort="Onodera, Osamu" uniqKey="Onodera O" first="Osamu" last="Onodera">Osamu Onodera</name>
</author>
<author><name sortKey="Nishizawa, Masatoyo" sort="Nishizawa, Masatoyo" uniqKey="Nishizawa M" first="Masatoyo" last="Nishizawa">Masatoyo Nishizawa</name>
</author>
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<date when="2007">2007</date>
<idno type="doi">10.1002/mds.21557</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Sacsin-related ataxia with neither retinal hypermyelination nor spasticity.</title>
<author><name sortKey="Hara, Kenju" sort="Hara, Kenju" uniqKey="Hara K" first="Kenju" last="Hara">Kenju Hara</name>
</author>
<author><name sortKey="Shimbo, Junsuke" sort="Shimbo, Junsuke" uniqKey="Shimbo J" first="Junsuke" last="Shimbo">Junsuke Shimbo</name>
</author>
<author><name sortKey="Nozaki, Hiroaki" sort="Nozaki, Hiroaki" uniqKey="Nozaki H" first="Hiroaki" last="Nozaki">Hiroaki Nozaki</name>
</author>
<author><name sortKey="Kikugawa, Koki" sort="Kikugawa, Koki" uniqKey="Kikugawa K" first="Koki" last="Kikugawa">Koki Kikugawa</name>
</author>
<author><name sortKey="Onodera, Osamu" sort="Onodera, Osamu" uniqKey="Onodera O" first="Osamu" last="Onodera">Osamu Onodera</name>
</author>
<author><name sortKey="Nishizawa, Masatoyo" sort="Nishizawa, Masatoyo" uniqKey="Nishizawa M" first="Masatoyo" last="Nishizawa">Masatoyo Nishizawa</name>
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</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2007" type="published">2007</date>
</imprint>
</series>
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</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Ataxia (complications)</term>
<term>Ataxia (genetics)</term>
<term>Ataxia (pathology)</term>
<term>Heat-Shock Proteins</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging (methods)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Muscle Spasticity (etiology)</term>
<term>Nerve Fibers, Myelinated (pathology)</term>
<term>Retina (pathology)</term>
</keywords>
<keywords scheme="MESH" type="chemical" xml:lang="en"><term>Heat-Shock Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Ataxia</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Muscle Spasticity</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ataxia</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Magnetic Resonance Imaging</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Ataxia</term>
<term>Nerve Fibers, Myelinated</term>
<term>Retina</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
</keywords>
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<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17516465</PMID>
<DateCreated><Year>2007</Year>
<Month>07</Month>
<Day>30</Day>
</DateCreated>
<DateCompleted><Year>2008</Year>
<Month>04</Month>
<Day>16</Day>
</DateCompleted>
<Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>22</Volume>
<Issue>9</Issue>
<PubDate><Year>2007</Year>
<Month>Jul</Month>
<Day>15</Day>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Sacsin-related ataxia with neither retinal hypermyelination nor spasticity.</ArticleTitle>
<Pagination><MedlinePgn>1362-3</MedlinePgn>
</Pagination>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Hara</LastName>
<ForeName>Kenju</ForeName>
<Initials>K</Initials>
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<Author ValidYN="Y"><LastName>Shimbo</LastName>
<ForeName>Junsuke</ForeName>
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<Author ValidYN="Y"><LastName>Kikugawa</LastName>
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<Author ValidYN="Y"><LastName>Onodera</LastName>
<ForeName>Osamu</ForeName>
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<Author ValidYN="Y"><LastName>Nishizawa</LastName>
<ForeName>Masatoyo</ForeName>
<Initials>M</Initials>
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<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType>
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<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D006360">Heat-Shock Proteins</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C404403">SACS protein, human</NameOfSubstance>
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<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001259">Ataxia</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006360">Heat-Shock Proteins</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008279">Magnetic Resonance Imaging</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009128">Muscle Spasticity</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000209">etiology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009413">Nerve Fibers, Myelinated</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000473">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D012160">Retina</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000473">pathology</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year>
<Month>5</Month>
<Day>23</Day>
<Hour>9</Hour>
<Minute>0</Minute>
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<PubMedPubDate PubStatus="medline"><Year>2008</Year>
<Month>4</Month>
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<PubMedPubDate PubStatus="entrez"><Year>2007</Year>
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<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="doi">10.1002/mds.21557</ArticleId>
<ArticleId IdType="pubmed">17516465</ArticleId>
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