Screening of mutations in GNAL in sporadic dystonia patients.
Identifieur interne : 000421 ( Main/Exploration ); précédent : 000420; suivant : 000422Screening of mutations in GNAL in sporadic dystonia patients.
Auteurs : Claudia Dufke [Allemagne] ; Marc Sturm ; Christopher Schroeder ; Susanne Moll ; Thomas Ott ; Olaf Riess ; Peter Bauer ; Kathrin GrundmannSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Apoptosis Regulatory Proteins (genetics), Child, Child, Preschool, Cohort Studies, DNA-Binding Proteins (genetics), Dystonic Disorders (genetics), Female, GTP-Binding Protein alpha Subunits (genetics), Genetic Association Studies, Genetic Predisposition to Disease (genetics), Humans, Infant, Male, Middle Aged, Mutation (genetics), Nuclear Proteins (genetics), Young Adult.
- MESH :
- chemical , genetics : Apoptosis Regulatory Proteins, DNA-Binding Proteins, GTP-Binding Protein alpha Subunits, Nuclear Proteins.
- genetics : Dystonic Disorders, Genetic Predisposition to Disease, Mutation.
- Adolescent, Adult, Aged, Child, Child, Preschool, Cohort Studies, Female, Genetic Association Studies, Humans, Infant, Male, Middle Aged, Young Adult.
Abstract
GNAL mutations have been shown to cause adult-onset isolated dystonia, a disabling movement disorder characterized by involuntary muscle contractions causing twisting and repetitive movements or abnormal postures.
DOI: 10.1002/mds.25794
PubMed: 24408567
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 000611
- to stream PubMed, to step Curation: 000611
- to stream PubMed, to step Checkpoint: 000423
- to stream Ncbi, to step Merge: 003E86
- to stream Ncbi, to step Curation: 003E86
- to stream Ncbi, to step Checkpoint: 003E86
- to stream Main, to step Merge: 000421
- to stream Main, to step Curation: 000421
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Screening of mutations in GNAL in sporadic dystonia patients.</title><author><name sortKey="Dufke, Claudia" sort="Dufke, Claudia" uniqKey="Dufke C" first="Claudia" last="Dufke">Claudia Dufke</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Medical Genetics and Applied Genomics, Rare Disease Center Tuebingen, University of Tuebingen, Tuebingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Medical Genetics and Applied Genomics, Rare Disease Center Tuebingen, University of Tuebingen, Tuebingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Sturm, Marc" sort="Sturm, Marc" uniqKey="Sturm M" first="Marc" last="Sturm">Marc Sturm</name></author><author><name sortKey="Schroeder, Christopher" sort="Schroeder, Christopher" uniqKey="Schroeder C" first="Christopher" last="Schroeder">Christopher Schroeder</name></author><author><name sortKey="Moll, Susanne" sort="Moll, Susanne" uniqKey="Moll S" first="Susanne" last="Moll">Susanne Moll</name></author><author><name sortKey="Ott, Thomas" sort="Ott, Thomas" uniqKey="Ott T" first="Thomas" last="Ott">Thomas Ott</name></author><author><name sortKey="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name></author><author><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name></author><author><name sortKey="Grundmann, Kathrin" sort="Grundmann, Kathrin" uniqKey="Grundmann K" first="Kathrin" last="Grundmann">Kathrin Grundmann</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="RBID">pubmed:24408567</idno><idno type="pmid">24408567</idno><idno type="doi">10.1002/mds.25794</idno><idno type="wicri:Area/PubMed/Corpus">000611</idno><idno type="wicri:Area/PubMed/Curation">000611</idno><idno type="wicri:Area/PubMed/Checkpoint">000423</idno><idno type="wicri:Area/Ncbi/Merge">003E86</idno><idno type="wicri:Area/Ncbi/Curation">003E86</idno><idno type="wicri:Area/Ncbi/Checkpoint">003E86</idno><idno type="wicri:Area/Main/Merge">000421</idno><idno type="wicri:Area/Main/Curation">000421</idno><idno type="wicri:Area/Main/Exploration">000421</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Screening of mutations in GNAL in sporadic dystonia patients.</title><author><name sortKey="Dufke, Claudia" sort="Dufke, Claudia" uniqKey="Dufke C" first="Claudia" last="Dufke">Claudia Dufke</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Medical Genetics and Applied Genomics, Rare Disease Center Tuebingen, University of Tuebingen, Tuebingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Medical Genetics and Applied Genomics, Rare Disease Center Tuebingen, University of Tuebingen, Tuebingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Sturm, Marc" sort="Sturm, Marc" uniqKey="Sturm M" first="Marc" last="Sturm">Marc Sturm</name></author><author><name sortKey="Schroeder, Christopher" sort="Schroeder, Christopher" uniqKey="Schroeder C" first="Christopher" last="Schroeder">Christopher Schroeder</name></author><author><name sortKey="Moll, Susanne" sort="Moll, Susanne" uniqKey="Moll S" first="Susanne" last="Moll">Susanne Moll</name></author><author><name sortKey="Ott, Thomas" sort="Ott, Thomas" uniqKey="Ott T" first="Thomas" last="Ott">Thomas Ott</name></author><author><name sortKey="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name></author><author><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name></author><author><name sortKey="Grundmann, Kathrin" sort="Grundmann, Kathrin" uniqKey="Grundmann K" first="Kathrin" last="Grundmann">Kathrin Grundmann</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>Adolescent</term><term>Adult</term><term>Aged</term><term>Apoptosis Regulatory Proteins (genetics)</term><term>Child</term><term>Child, Preschool</term><term>Cohort Studies</term><term>DNA-Binding Proteins (genetics)</term><term>Dystonic Disorders (genetics)</term><term>Female</term><term>GTP-Binding Protein alpha Subunits (genetics)</term><term>Genetic Association Studies</term><term>Genetic Predisposition to Disease (genetics)</term><term>Humans</term><term>Infant</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Nuclear Proteins (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Apoptosis Regulatory Proteins</term><term>DNA-Binding Proteins</term><term>GTP-Binding Protein alpha Subunits</term><term>Nuclear Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term><term>Genetic Predisposition to Disease</term><term>Mutation</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Child</term><term>Child, Preschool</term><term>Cohort Studies</term><term>Female</term><term>Genetic Association Studies</term><term>Humans</term><term>Infant</term><term>Male</term><term>Middle Aged</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">GNAL mutations have been shown to cause adult-onset isolated dystonia, a disabling movement disorder characterized by involuntary muscle contractions causing twisting and repetitive movements or abnormal postures.</div></front></TEI><affiliations><list><country><li>Allemagne</li></country><region><li>Bade-Wurtemberg</li><li>District de Tübingen</li></region><settlement><li>Tübingen</li></settlement></list><tree><noCountry><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name><name sortKey="Grundmann, Kathrin" sort="Grundmann, Kathrin" uniqKey="Grundmann K" first="Kathrin" last="Grundmann">Kathrin Grundmann</name><name sortKey="Moll, Susanne" sort="Moll, Susanne" uniqKey="Moll S" first="Susanne" last="Moll">Susanne Moll</name><name sortKey="Ott, Thomas" sort="Ott, Thomas" uniqKey="Ott T" first="Thomas" last="Ott">Thomas Ott</name><name sortKey="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name><name sortKey="Schroeder, Christopher" sort="Schroeder, Christopher" uniqKey="Schroeder C" first="Christopher" last="Schroeder">Christopher Schroeder</name><name sortKey="Sturm, Marc" sort="Sturm, Marc" uniqKey="Sturm M" first="Marc" last="Sturm">Marc Sturm</name></noCountry><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Dufke, Claudia" sort="Dufke, Claudia" uniqKey="Dufke C" first="Claudia" last="Dufke">Claudia Dufke</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000421 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000421 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Main
|étape= Exploration
|type= RBID
|clé= pubmed:24408567
|texte= Screening of mutations in GNAL in sporadic dystonia patients.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:24408567" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |