A de novo SCA14 mutation in an isolated case of late-onset cerebellar ataxia.
Identifieur interne : 000B46 ( PubMed/Checkpoint ); précédent : 000B45; suivant : 000B47A de novo SCA14 mutation in an isolated case of late-onset cerebellar ataxia.
Auteurs : Judith Van Gaalen [Pays-Bas] ; Sascha Vermeer ; Marjon Van Veluw ; Bart P C. Van De Warrenburg ; Dennis DooijesSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Protein Kinase C.
- genetics : Spinocerebellar Degenerations.
- Humans, Male, Middle Aged.
DOI: 10.1002/mds.25572
PubMed: 23853068
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
pubmed:23853068Le document en format XML
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<author><name sortKey="Van Gaalen, Judith" sort="Van Gaalen, Judith" uniqKey="Van Gaalen J" first="Judith" last="Van Gaalen">Judith Van Gaalen</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Neurology & Donders Institute for Brain, Cognition and Behaviour Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Neurology & Donders Institute for Brain, Cognition and Behaviour Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
<placeName><settlement type="city">Nimègue</settlement>
<region type="province" nuts="2">Gueldre</region>
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<author><name sortKey="Van Veluw, Marjon" sort="Van Veluw, Marjon" uniqKey="Van Veluw M" first="Marjon" last="Van Veluw">Marjon Van Veluw</name>
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<author><name sortKey="Van De Warrenburg, Bart P C" sort="Van De Warrenburg, Bart P C" uniqKey="Van De Warrenburg B" first="Bart P C" last="Van De Warrenburg">Bart P C. Van De Warrenburg</name>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein Kinase C</term>
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<Month>11</Month>
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<DateCompleted><Year>2014</Year>
<Month>06</Month>
<Day>27</Day>
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<JournalIssue CitedMedium="Internet"><Volume>28</Volume>
<Issue>13</Issue>
<PubDate><Year>2013</Year>
<Month>Nov</Month>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
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<ArticleTitle>A de novo SCA14 mutation in an isolated case of late-onset cerebellar ataxia.</ArticleTitle>
<Pagination><MedlinePgn>1902-3</MedlinePgn>
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<affiliations><list><country><li>Pays-Bas</li>
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<tree><noCountry><name sortKey="Dooijes, Dennis" sort="Dooijes, Dennis" uniqKey="Dooijes D" first="Dennis" last="Dooijes">Dennis Dooijes</name>
<name sortKey="Van De Warrenburg, Bart P C" sort="Van De Warrenburg, Bart P C" uniqKey="Van De Warrenburg B" first="Bart P C" last="Van De Warrenburg">Bart P C. Van De Warrenburg</name>
<name sortKey="Van Veluw, Marjon" sort="Van Veluw, Marjon" uniqKey="Van Veluw M" first="Marjon" last="Van Veluw">Marjon Van Veluw</name>
<name sortKey="Vermeer, Sascha" sort="Vermeer, Sascha" uniqKey="Vermeer S" first="Sascha" last="Vermeer">Sascha Vermeer</name>
</noCountry>
<country name="Pays-Bas"><region name="Gueldre"><name sortKey="Van Gaalen, Judith" sort="Van Gaalen, Judith" uniqKey="Van Gaalen J" first="Judith" last="Van Gaalen">Judith Van Gaalen</name>
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