Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.
Identifieur interne : 000451 ( Main/Exploration ); précédent : 000450; suivant : 000452Rare 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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Le document en format XML
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last="Winkelmann">Juliane Winkelmann</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="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><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></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Chloride Channels</term><term>GTP-Binding Protein alpha Subunits</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia Musculorum 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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></noCountry><country name="Allemagne"><region name="Bavière"><name sortKey="Zech, Michael" sort="Zech, Michael" uniqKey="Zech M" first="Michael" last="Zech">Michael Zech</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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