Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.
Identifieur interne : 003E00 ( Ncbi/Checkpoint ); précédent : 003D99; suivant : 003E01Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.
Auteurs : Michael Zech [Allemagne] ; Nadine Gross ; Angela Jochim ; Florian Castrop ; Maria Kaffe ; Christian Dresel ; Peter Lichtner ; Annette Peters ; Christian Gieger ; Thomas Meitinger ; Bernhard Haslinger ; Juliane WinkelmannSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Chloride Channels, GTP-Binding Protein alpha Subunits.
- genetics : Dystonia Musculorum Deformans.
- Adult, Aged, Aged, 80 and over, Female, Humans, Male, Middle Aged, Mutation, Missense, Young Adult.
Abstract
Rare autosomal-dominant mutations in ANO3 and GNAL have been recently shown to represent novel genetic factors underlying primary torsion dystonia (PTD) with predominantly craniocervical involvement.
DOI: 10.1002/mds.25715
PubMed: 24151159
Affiliations:
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pubmed:24151159Le document en format XML
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.</title>
<author><name sortKey="Zech, Michael" sort="Zech, Michael" uniqKey="Zech M" first="Michael" last="Zech">Michael Zech</name>
<affiliation wicri:level="4"><nlm:affiliation>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.</nlm:affiliation>
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<author><name sortKey="Dresel, Christian" sort="Dresel, Christian" uniqKey="Dresel C" first="Christian" last="Dresel">Christian Dresel</name>
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<author><name sortKey="Peters, Annette" sort="Peters, Annette" uniqKey="Peters A" first="Annette" last="Peters">Annette Peters</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Chloride Channels (genetics)</term>
<term>Dystonia Musculorum Deformans (genetics)</term>
<term>Female</term>
<term>GTP-Binding Protein alpha Subunits (genetics)</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation, Missense</term>
<term>Young Adult</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Chloride Channels</term>
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<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation, Missense</term>
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<front><div type="abstract" xml:lang="en">Rare autosomal-dominant mutations in ANO3 and GNAL have been recently shown to represent novel genetic factors underlying primary torsion dystonia (PTD) with predominantly craniocervical involvement.</div>
</front>
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<li>District de Haute-Bavière</li>
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<settlement><li>Munich</li>
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<orgName><li>Université technique de Munich</li>
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<tree><noCountry><name sortKey="Castrop, Florian" sort="Castrop, Florian" uniqKey="Castrop F" first="Florian" last="Castrop">Florian Castrop</name>
<name sortKey="Dresel, Christian" sort="Dresel, Christian" uniqKey="Dresel C" first="Christian" last="Dresel">Christian Dresel</name>
<name sortKey="Gieger, Christian" sort="Gieger, Christian" uniqKey="Gieger C" first="Christian" last="Gieger">Christian Gieger</name>
<name sortKey="Gross, Nadine" sort="Gross, Nadine" uniqKey="Gross N" first="Nadine" last="Gross">Nadine Gross</name>
<name sortKey="Haslinger, Bernhard" sort="Haslinger, Bernhard" uniqKey="Haslinger B" first="Bernhard" last="Haslinger">Bernhard Haslinger</name>
<name sortKey="Jochim, Angela" sort="Jochim, Angela" uniqKey="Jochim A" first="Angela" last="Jochim">Angela Jochim</name>
<name sortKey="Kaffe, Maria" sort="Kaffe, Maria" uniqKey="Kaffe M" first="Maria" last="Kaffe">Maria Kaffe</name>
<name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name>
<name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name>
<name sortKey="Peters, Annette" sort="Peters, Annette" uniqKey="Peters A" first="Annette" last="Peters">Annette Peters</name>
<name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name>
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<country name="Allemagne"><region name="Bavière"><name sortKey="Zech, Michael" sort="Zech, Michael" uniqKey="Zech M" first="Michael" last="Zech">Michael Zech</name>
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