DYT 6--a novel THAP1 mutation with excellent effect on pallidal DBS.
Identifieur interne : 001372 ( PubMed/Corpus ); précédent : 001371; suivant : 001373DYT 6--a novel THAP1 mutation with excellent effect on pallidal DBS.
Auteurs : Robert Jech ; Martin Bareš ; Anna K Epelová ; Dušan Urgošík ; Petra Havránková ; Evžen Růži KaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2011.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Apoptosis Regulatory Proteins, DNA-Binding Proteins, Nuclear Proteins.
- genetics : Dystonia, Mutation.
- methods : Deep Brain Stimulation.
- physiology : Globus Pallidus.
- therapy : Dystonia.
- Adolescent, Family Health, Female, Humans, Male, Young Adult.
DOI: 10.1002/mds.23599
PubMed: 21425341
Links to Exploration step
pubmed:21425341Le document en format XML
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<author><name sortKey="Jech, Robert" sort="Jech, Robert" uniqKey="Jech R" first="Robert" last="Jech">Robert Jech</name>
</author>
<author><name sortKey="Bares, Martin" sort="Bares, Martin" uniqKey="Bares M" first="Martin" last="Bareš">Martin Bareš</name>
</author>
<author><name sortKey="K Epelova, Anna" sort="K Epelova, Anna" uniqKey="K Epelova A" first="Anna" last="K Epelová">Anna K Epelová</name>
</author>
<author><name sortKey="Urgosik, Dusan" sort="Urgosik, Dusan" uniqKey="Urgosik D" first="Dušan" last="Urgošík">Dušan Urgošík</name>
</author>
<author><name sortKey="Havrankova, Petra" sort="Havrankova, Petra" uniqKey="Havrankova P" first="Petra" last="Havránková">Petra Havránková</name>
</author>
<author><name sortKey="Ruzi Ka, Evzen" sort="Ruzi Ka, Evzen" uniqKey="Ruzi Ka E" first="Evžen" last="Růži Ka">Evžen Růži Ka</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">DYT 6--a novel THAP1 mutation with excellent effect on pallidal DBS.</title>
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<author><name sortKey="Bares, Martin" sort="Bares, Martin" uniqKey="Bares M" first="Martin" last="Bareš">Martin Bareš</name>
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<author><name sortKey="K Epelova, Anna" sort="K Epelova, Anna" uniqKey="K Epelova A" first="Anna" last="K Epelová">Anna K Epelová</name>
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<author><name sortKey="Urgosik, Dusan" sort="Urgosik, Dusan" uniqKey="Urgosik D" first="Dušan" last="Urgošík">Dušan Urgošík</name>
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<author><name sortKey="Havrankova, Petra" sort="Havrankova, Petra" uniqKey="Havrankova P" first="Petra" last="Havránková">Petra Havránková</name>
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<author><name sortKey="Ruzi Ka, Evzen" sort="Ruzi Ka, Evzen" uniqKey="Ruzi Ka E" first="Evžen" last="Růži Ka">Evžen Růži Ka</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>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Apoptosis Regulatory Proteins (genetics)</term>
<term>DNA-Binding Proteins (genetics)</term>
<term>Deep Brain Stimulation (methods)</term>
<term>Dystonia (genetics)</term>
<term>Dystonia (therapy)</term>
<term>Family Health</term>
<term>Female</term>
<term>Globus Pallidus (physiology)</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation (genetics)</term>
<term>Nuclear Proteins (genetics)</term>
<term>Young Adult</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Apoptosis Regulatory Proteins</term>
<term>DNA-Binding Proteins</term>
<term>Nuclear Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term>
<term>Mutation</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Deep Brain Stimulation</term>
</keywords>
<keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Globus Pallidus</term>
</keywords>
<keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Dystonia</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Family Health</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Young Adult</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>DYT 6--a novel THAP1 mutation with excellent effect on pallidal DBS.</ArticleTitle>
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