Tremor-ataxia with central hypomyelination (TACH): dystonia as a new clinical feature.
Identifieur interne : 000B72 ( PubMed/Checkpoint ); précédent : 000B71; suivant : 000B73Tremor-ataxia with central hypomyelination (TACH): dystonia as a new clinical feature.
Auteurs : Bradley Osterman ; Michel Sylvain ; Sylvain Chouinard ; Geneviève BernardSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- Ataxia (diagnosis), Ataxia (genetics), Ataxia (pathology), Child, Dystonia (diagnosis), Dystonia (genetics), Dystonia (pathology), Genetic Predisposition to Disease, Humans, Magnetic Resonance Imaging, Male, Mutation (genetics), Nerve Fibers, Myelinated (pathology), Tremor (diagnosis), Tremor (genetics), Tremor (pathology).
- MESH :
DOI: 10.1002/mds.25270
PubMed: 23208740
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
pubmed:23208740Le document en format XML
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<author><name sortKey="Osterman, Bradley" sort="Osterman, Bradley" uniqKey="Osterman B" first="Bradley" last="Osterman">Bradley Osterman</name>
</author>
<author><name sortKey="Sylvain, Michel" sort="Sylvain, Michel" uniqKey="Sylvain M" first="Michel" last="Sylvain">Michel Sylvain</name>
</author>
<author><name sortKey="Chouinard, Sylvain" sort="Chouinard, Sylvain" uniqKey="Chouinard S" first="Sylvain" last="Chouinard">Sylvain Chouinard</name>
</author>
<author><name sortKey="Bernard, Genevieve" sort="Bernard, Genevieve" uniqKey="Bernard G" first="Geneviève" last="Bernard">Geneviève Bernard</name>
</author>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Tremor-ataxia with central hypomyelination (TACH): dystonia as a new clinical feature.</title>
<author><name sortKey="Osterman, Bradley" sort="Osterman, Bradley" uniqKey="Osterman B" first="Bradley" last="Osterman">Bradley Osterman</name>
</author>
<author><name sortKey="Sylvain, Michel" sort="Sylvain, Michel" uniqKey="Sylvain M" first="Michel" last="Sylvain">Michel Sylvain</name>
</author>
<author><name sortKey="Chouinard, Sylvain" sort="Chouinard, Sylvain" uniqKey="Chouinard S" first="Sylvain" last="Chouinard">Sylvain Chouinard</name>
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<author><name sortKey="Bernard, Genevieve" sort="Bernard, Genevieve" uniqKey="Bernard G" first="Geneviève" last="Bernard">Geneviève Bernard</name>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2012" type="published">2012</date>
</imprint>
</series>
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</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Ataxia (diagnosis)</term>
<term>Ataxia (genetics)</term>
<term>Ataxia (pathology)</term>
<term>Child</term>
<term>Dystonia (diagnosis)</term>
<term>Dystonia (genetics)</term>
<term>Dystonia (pathology)</term>
<term>Genetic Predisposition to Disease</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Mutation (genetics)</term>
<term>Nerve Fibers, Myelinated (pathology)</term>
<term>Tremor (diagnosis)</term>
<term>Tremor (genetics)</term>
<term>Tremor (pathology)</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Ataxia</term>
<term>Dystonia</term>
<term>Tremor</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ataxia</term>
<term>Dystonia</term>
<term>Mutation</term>
<term>Tremor</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Ataxia</term>
<term>Dystonia</term>
<term>Nerve Fibers, Myelinated</term>
<term>Tremor</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Child</term>
<term>Genetic Predisposition to Disease</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
</keywords>
</textClass>
</profileDesc>
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<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">23208740</PMID>
<DateCreated><Year>2013</Year>
<Month>01</Month>
<Day>03</Day>
</DateCreated>
<DateCompleted><Year>2013</Year>
<Month>08</Month>
<Day>07</Day>
</DateCompleted>
<DateRevised><Year>2015</Year>
<Month>06</Month>
<Day>24</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>27</Volume>
<Issue>14</Issue>
<PubDate><Year>2012</Year>
<Month>Dec</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Tremor-ataxia with central hypomyelination (TACH): dystonia as a new clinical feature.</ArticleTitle>
<Pagination><MedlinePgn>1829-30</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25270</ELocationID>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Osterman</LastName>
<ForeName>Bradley</ForeName>
<Initials>B</Initials>
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<Author ValidYN="Y"><LastName>Sylvain</LastName>
<ForeName>Michel</ForeName>
<Initials>M</Initials>
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<Author ValidYN="Y"><LastName>Chouinard</LastName>
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<Initials>S</Initials>
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<Author ValidYN="Y"><LastName>Bernard</LastName>
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<Language>eng</Language>
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<ArticleDate DateType="Electronic"><Year>2012</Year>
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<MedlineJournalInfo><Country>United States</Country>
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<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001259">Ataxia</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002648">Child</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D004421">Dystonia</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020022">Genetic Predisposition to Disease</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008279">Magnetic Resonance Imaging</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D009413">Nerve Fibers, Myelinated</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D014202">Tremor</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
</MeshHeading>
</MeshHeadingList>
<OtherID Source="NLM">PMC4471618</OtherID>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2012</Year>
<Month>7</Month>
<Day>6</Day>
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<PubMedPubDate PubStatus="revised"><Year>2012</Year>
<Month>9</Month>
<Day>17</Day>
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<PubMedPubDate PubStatus="accepted"><Year>2012</Year>
<Month>10</Month>
<Day>8</Day>
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<PubMedPubDate PubStatus="aheadofprint"><Year>2012</Year>
<Month>12</Month>
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<PublicationStatus>ppublish</PublicationStatus>
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<affiliations><list></list>
<tree><noCountry><name sortKey="Bernard, Genevieve" sort="Bernard, Genevieve" uniqKey="Bernard G" first="Geneviève" last="Bernard">Geneviève Bernard</name>
<name sortKey="Chouinard, Sylvain" sort="Chouinard, Sylvain" uniqKey="Chouinard S" first="Sylvain" last="Chouinard">Sylvain Chouinard</name>
<name sortKey="Osterman, Bradley" sort="Osterman, Bradley" uniqKey="Osterman B" first="Bradley" last="Osterman">Bradley Osterman</name>
<name sortKey="Sylvain, Michel" sort="Sylvain, Michel" uniqKey="Sylvain M" first="Michel" last="Sylvain">Michel Sylvain</name>
</noCountry>
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</record>
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