DYT 6—A novel THAP1 mutation with excellent effect on pallidal DBS
Identifieur interne : 001721 ( Main/Exploration ); précédent : 001720; suivant : 001722DYT 6—A novel THAP1 mutation with excellent effect on pallidal DBS
Auteurs : Robert Jech [République tchèque] ; Martin Bareš [République tchèque] ; Anna K Epelová [République tchèque] ; Dušan Urgošík [République tchèque] ; Petra Havránková [République tchèque] ; Evžen Růži Ka [République tchèque]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-04.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adolescent, Apoptosis Regulatory Proteins (genetics), DNA-Binding Proteins (genetics), Deep Brain Stimulation (methods), Dystonia (genetics), Dystonia (therapy), Family Health, Female, Globus Pallidus (physiology), Humans, Male, Mutation, Mutation (genetics), Nervous system diseases, Nuclear Proteins (genetics), Young Adult.
- 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.
Url:
DOI: 10.1002/mds.23599
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 002695
- to stream Istex, to step Curation: 002695
- to stream Istex, to step Checkpoint: 000454
- to stream PubMed, to step Corpus: 001372
- to stream PubMed, to step Curation: 001372
- to stream PubMed, to step Checkpoint: 001391
- to stream Ncbi, to step Merge: 003052
- to stream Ncbi, to step Curation: 003052
- to stream Ncbi, to step Checkpoint: 003052
- to stream Main, to step Merge: 001775
- to stream PascalFrancis, to step Corpus: 000593
- to stream PascalFrancis, to step Curation: 002725
- to stream PascalFrancis, to step Checkpoint: 000646
- to stream Main, to step Merge: 001C36
- to stream Main, to step Curation: 001721
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">DYT 6—A novel THAP1 mutation with excellent effect on pallidal DBS</title><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></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:859EC92C0C2F8982780BA7736F4674379E7CEF61</idno><date when="2011" year="2011">2011</date><idno type="doi">10.1002/mds.23599</idno><idno type="url">https://api.istex.fr/document/859EC92C0C2F8982780BA7736F4674379E7CEF61/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002695</idno><idno type="wicri:Area/Istex/Curation">002695</idno><idno type="wicri:Area/Istex/Checkpoint">000454</idno><idno type="wicri:doubleKey">0885-3185:2011:Jech R:dyt:a:novel</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:21425341</idno><idno type="wicri:Area/PubMed/Corpus">001372</idno><idno type="wicri:Area/PubMed/Curation">001372</idno><idno type="wicri:Area/PubMed/Checkpoint">001391</idno><idno type="wicri:Area/Ncbi/Merge">003052</idno><idno type="wicri:Area/Ncbi/Curation">003052</idno><idno type="wicri:Area/Ncbi/Checkpoint">003052</idno><idno type="wicri:Area/Main/Merge">001775</idno><idno type="wicri:source">INIST</idno><idno type="RBID">Pascal:11-0228456</idno><idno type="wicri:Area/PascalFrancis/Corpus">000593</idno><idno type="wicri:Area/PascalFrancis/Curation">002725</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000646</idno><idno type="wicri:doubleKey">0885-3185:2011:Jech R:dyt:a:novel</idno><idno type="wicri:Area/Main/Merge">001C36</idno><idno type="wicri:Area/Main/Curation">001721</idno><idno type="wicri:Area/Main/Exploration">001721</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">DYT 6—A novel THAP1 mutation with excellent effect on pallidal DBS</title><author><name sortKey="Jech, Robert" sort="Jech, Robert" uniqKey="Jech R" first="Robert" last="Jech">Robert Jech</name><affiliation wicri:level="1"><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague</wicri:regionArea><wicri:noRegion>Charles University in Prague and General University Hospital in Prague</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">République tchèque</country><wicri:regionArea>General University Hospital in Prague</wicri:regionArea></affiliation></author><author><name sortKey="Bares, Martin" sort="Bares, Martin" uniqKey="Bares M" first="Martin" last="Bareš">Martin Bareš</name><affiliation wicri:level="1"><country xml:lang="fr">République tchèque</country><wicri:regionArea>First Department of Neurology, St. Anne's Hospital, Faculty of Medicine, Masaryk University Brno</wicri:regionArea><wicri:noRegion>Masaryk University Brno</wicri:noRegion></affiliation></author><author><name sortKey="K Epelova, Anna" sort="K Epelova, Anna" uniqKey="K Epelova A" first="Anna" last="K Epelová">Anna K Epelová</name><affiliation wicri:level="3"><country xml:lang="fr">République tchèque</country><wicri:regionArea>Institute of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Urgosik, Dusan" sort="Urgosik, Dusan" uniqKey="Urgosik D" first="Dušan" last="Urgošík">Dušan Urgošík</name><affiliation wicri:level="1"><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague</wicri:regionArea><wicri:noRegion>Charles University in Prague and General University Hospital in Prague</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">République tchèque</country><wicri:regionArea>General University Hospital in Prague</wicri:regionArea></affiliation><affiliation wicri:level="3"><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Stereotactic and Radiation Neurosurgery, Na Homolce Hospital, Prague</wicri:regionArea><placeName><settlement type="city">Prague</settlement><region type="région" nuts="2">Bohême centrale</region></placeName></affiliation></author><author><name sortKey="Havrankova, Petra" sort="Havrankova, Petra" uniqKey="Havrankova P" first="Petra" last="Havránková">Petra Havránková</name><affiliation wicri:level="1"><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague</wicri:regionArea><wicri:noRegion>Charles University in Prague and General University Hospital in Prague</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">République tchèque</country><wicri:regionArea>General University Hospital in Prague</wicri:regionArea></affiliation></author><author><name sortKey="Ruzi Ka, Evzen" sort="Ruzi Ka, Evzen" uniqKey="Ruzi Ka E" first="Evžen" last="Růži Ka">Evžen Růži Ka</name><affiliation wicri:level="1"><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague</wicri:regionArea><wicri:noRegion>Charles University in Prague and General University Hospital in Prague</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">République tchèque</country><wicri:regionArea>General University Hospital in Prague</wicri:regionArea></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-04">2011-04</date><biblScope unit="vol">26</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="924">924</biblScope><biblScope unit="page" to="925">925</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">859EC92C0C2F8982780BA7736F4674379E7CEF61</idno><idno type="DOI">10.1002/mds.23599</idno><idno type="ArticleID">MDS23599</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><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</term><term>Mutation (genetics)</term><term>Nervous system diseases</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>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></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Mutation</term><term>Pathologie du système nerveux</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader></TEI><affiliations><list><country><li>République tchèque</li></country><region><li>Bohême centrale</li></region><settlement><li>Prague</li></settlement></list><tree><country name="République tchèque"><noRegion><name sortKey="Jech, Robert" sort="Jech, Robert" uniqKey="Jech R" first="Robert" last="Jech">Robert Jech</name></noRegion><name sortKey="Bares, Martin" sort="Bares, Martin" uniqKey="Bares M" first="Martin" last="Bareš">Martin Bareš</name><name sortKey="Havrankova, Petra" sort="Havrankova, Petra" uniqKey="Havrankova P" first="Petra" last="Havránková">Petra Havránková</name><name sortKey="Havrankova, Petra" sort="Havrankova, Petra" uniqKey="Havrankova P" first="Petra" last="Havránková">Petra Havránková</name><name sortKey="Jech, Robert" sort="Jech, Robert" uniqKey="Jech R" first="Robert" last="Jech">Robert Jech</name><name sortKey="K Epelova, Anna" sort="K Epelova, Anna" uniqKey="K Epelova A" first="Anna" last="K Epelová">Anna K Epelová</name><name sortKey="Ruzi Ka, Evzen" sort="Ruzi Ka, Evzen" uniqKey="Ruzi Ka E" first="Evžen" last="Růži Ka">Evžen Růži Ka</name><name sortKey="Ruzi Ka, Evzen" sort="Ruzi Ka, Evzen" uniqKey="Ruzi Ka E" first="Evžen" last="Růži Ka">Evžen Růži Ka</name><name sortKey="Urgosik, Dusan" sort="Urgosik, Dusan" uniqKey="Urgosik D" first="Dušan" last="Urgošík">Dušan Urgošík</name><name sortKey="Urgosik, Dusan" sort="Urgosik, Dusan" uniqKey="Urgosik D" first="Dušan" last="Urgošík">Dušan Urgošík</name><name sortKey="Urgosik, Dusan" sort="Urgosik, Dusan" uniqKey="Urgosik D" first="Dušan" last="Urgošík">Dušan Urgošík</name></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 001721 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 001721 | 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= ISTEX:859EC92C0C2F8982780BA7736F4674379E7CEF61
|texte= DYT 6—A novel THAP1 mutation with excellent effect on pallidal DBS
}}
| This area was generated with Dilib version V0.6.23. |  |