MovDisordV3, Ncbi, Curation, bibRecord, 002F60

An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family.

Identifieur interne : 002F60 ( Ncbi/Curation ); précédent : 002F59; suivant : 002F61

An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family.

Auteurs : Helen Ling [Royaume-Uni] ; James M. Polke ; Mary G. Sweeney ; Andrea Haworth ; Catherine A. Sandford ; Simon J R. Heales ; Nicholas W. Wood ; Mary B. Davis ; Andrew J. Lees

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2011.

RBID : pubmed:21287604

English descriptors

KwdEn :
- Adult, Antiparkinson Agents (adverse effects), Dystonia (chemically induced), Dystonia (genetics), Family Health, Female, GTP Cyclohydrolase (genetics), Genes, Duplicate (genetics), Genetic Testing (methods), Humans, Levodopa (adverse effects), Male, Young Adult.
MESH :
- chemical , adverse effects : Antiparkinson Agents, Levodopa.
- chemically induced : Dystonia.
- genetics : Dystonia, GTP Cyclohydrolase, Genes, Duplicate.
- methods : Genetic Testing.
- Adult, Family Health, Female, Humans, Male, Young Adult.

Abstract

Autosomal dominant dopa-responsive dystonia is commonly caused by mutations in the guanosine triphosphate cyclohydrolase-1 gene.

DOI: 10.1002/mds.23593
PubMed: 21287604

Links toward previous steps (curation, corpus...)

to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :001460
to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :001460
to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :001478
to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :002F60

Links to Exploration step

pubmed:21287604

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family.</title>
<author><name sortKey="Ling, Helen" sort="Ling, Helen" uniqKey="Ling H" first="Helen" last="Ling">Helen Ling</name>
<affiliation wicri:level="3"><nlm:affiliation>Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Polke, James M" sort="Polke, James M" uniqKey="Polke J" first="James M" last="Polke">James M. Polke</name>
</author>
<author><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G" last="Sweeney">Mary G. Sweeney</name>
</author>
<author><name sortKey="Haworth, Andrea" sort="Haworth, Andrea" uniqKey="Haworth A" first="Andrea" last="Haworth">Andrea Haworth</name>
</author>
<author><name sortKey="Sandford, Catherine A" sort="Sandford, Catherine A" uniqKey="Sandford C" first="Catherine A" last="Sandford">Catherine A. Sandford</name>
</author>
<author><name sortKey="Heales, Simon J R" sort="Heales, Simon J R" uniqKey="Heales S" first="Simon J R" last="Heales">Simon J R. Heales</name>
</author>
<author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</name>
</author>
<author><name sortKey="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B" last="Davis">Mary B. Davis</name>
</author>
<author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2011">2011</date>
<idno type="doi">10.1002/mds.23593</idno>
<idno type="RBID">pubmed:21287604</idno>
<idno type="pmid">21287604</idno>
<idno type="wicri:Area/PubMed/Corpus">001460</idno>
<idno type="wicri:Area/PubMed/Curation">001460</idno>
<idno type="wicri:Area/PubMed/Checkpoint">001478</idno>
<idno type="wicri:Area/Ncbi/Merge">002F60</idno>
<idno type="wicri:Area/Ncbi/Curation">002F60</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family.</title>
<author><name sortKey="Ling, Helen" sort="Ling, Helen" uniqKey="Ling H" first="Helen" last="Ling">Helen Ling</name>
<affiliation wicri:level="3"><nlm:affiliation>Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Polke, James M" sort="Polke, James M" uniqKey="Polke J" first="James M" last="Polke">James M. Polke</name>
</author>
<author><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G" last="Sweeney">Mary G. Sweeney</name>
</author>
<author><name sortKey="Haworth, Andrea" sort="Haworth, Andrea" uniqKey="Haworth A" first="Andrea" last="Haworth">Andrea Haworth</name>
</author>
<author><name sortKey="Sandford, Catherine A" sort="Sandford, Catherine A" uniqKey="Sandford C" first="Catherine A" last="Sandford">Catherine A. Sandford</name>
</author>
<author><name sortKey="Heales, Simon J R" sort="Heales, Simon J R" uniqKey="Heales S" first="Simon J R" last="Heales">Simon J R. Heales</name>
</author>
<author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</name>
</author>
<author><name sortKey="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B" last="Davis">Mary B. Davis</name>
</author>
<author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</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="2011" type="published">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Antiparkinson Agents (adverse effects)</term>
<term>Dystonia (chemically induced)</term>
<term>Dystonia (genetics)</term>
<term>Family Health</term>
<term>Female</term>
<term>GTP Cyclohydrolase (genetics)</term>
<term>Genes, Duplicate (genetics)</term>
<term>Genetic Testing (methods)</term>
<term>Humans</term>
<term>Levodopa (adverse effects)</term>
<term>Male</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="adverse effects" xml:lang="en"><term>Antiparkinson Agents</term>
<term>Levodopa</term>
</keywords>
<keywords scheme="MESH" qualifier="chemically induced" xml:lang="en"><term>Dystonia</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term>
<term>GTP Cyclohydrolase</term>
<term>Genes, Duplicate</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Genetic Testing</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Family Health</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Young Adult</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Autosomal dominant dopa-responsive dystonia is commonly caused by mutations in the guanosine triphosphate cyclohydrolase-1 gene.</div>
</front>
</TEI>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Curation

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002F60 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd -nk 002F60 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Ncbi
   |étape=   Curation
   |type=    RBID
   |clé=     pubmed:21287604
   |texte=   An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family.
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/RBID.i   -Sk "pubmed:21287604" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd   \
       | NlmPubMed2Wicri -a MovDisordV3

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family.

An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family.

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki