New nonsense mutation in the GTP‐cyclohydrolase I gene in L‐DOPA responsive dystonia‐parkinsonism
Identifieur interne : 004739 ( Main/Exploration ); précédent : 004738; suivant : 004740New nonsense mutation in the GTP‐cyclohydrolase I gene in L‐DOPA responsive dystonia‐parkinsonism
Auteurs : J. Hoenicka [Espagne] ; L. Vidal [Espagne] ; M. Godoy [Espagne] ; J. J. Ochoa [Espagne] ; J. García De Yébenes [Espagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2001-03.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Adult, Aged, Antiparkinson Agents (administration & dosage), Antiparkinson Agents (therapeutic use), Antiparkinson agent, Chemotherapy, Codon, Nonsense (genetics), DNA Mutational Analysis, Dystonia, Dystonia (drug therapy), Dystonia (enzymology), Dystonia (genetics), Family study, Female, GTP Cyclohydrolase (genetics), GTP Cyclohydrolase (metabolism), GTP cyclohydrolase I, Gene, Gene Expression (genetics), Genetic determinism, Human, Humans, Levodopa, Levodopa (administration & dosage), Levodopa (therapeutic use), Male, Nonsense mutation, Parkinsonian Disorders (drug therapy), Parkinsonian Disorders (enzymology), Parkinsonian Disorders (genetics), Parkinsonism, Pedigree, Point Mutation (genetics).
- MESH :
- chemical , administration & dosage : Antiparkinson Agents, Levodopa.
- chemical , genetics : Codon, Nonsense, GTP Cyclohydrolase.
- chemical , metabolism : GTP Cyclohydrolase.
- chemical , therapeutic use : Antiparkinson Agents, Levodopa.
- drug therapy : Dystonia, Parkinsonian Disorders.
- enzymology : Dystonia, Parkinsonian Disorders.
- genetics : Dystonia, Gene Expression, Parkinsonian Disorders, Point Mutation.
- Adult, Aged, DNA Mutational Analysis, Female, Humans, Male, Pedigree.
Url:
DOI: 10.1002/mds.1044
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 002574
- to stream Istex, to step Curation: 002574
- to stream Istex, to step Checkpoint: 002F66
- to stream Main, to step Merge: 006C21
- to stream PascalFrancis, to step Corpus: 002A31
- to stream PascalFrancis, to step Curation: 000290
- to stream PascalFrancis, to step Checkpoint: 002946
- to stream Main, to step Merge: 006E45
- to stream PubMed, to step Corpus: 003D62
- to stream PubMed, to step Curation: 003D62
- to stream PubMed, to step Checkpoint: 003C88
- to stream Ncbi, to step Merge: 000489
- to stream Ncbi, to step Curation: 000489
- to stream Ncbi, to step Checkpoint: 000489
- to stream Main, to step Merge: 006990
- to stream Main, to step Curation: 004739
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">New nonsense mutation in the GTP‐cyclohydrolase I gene in L‐DOPA responsive dystonia‐parkinsonism</title>
<author><name sortKey="Hoenicka, J" sort="Hoenicka, J" uniqKey="Hoenicka J" first="J." last="Hoenicka">J. Hoenicka</name>
</author>
<author><name sortKey="Vidal, L" sort="Vidal, L" uniqKey="Vidal L" first="L." last="Vidal">L. Vidal</name>
</author>
<author><name sortKey="Godoy, M" sort="Godoy, M" uniqKey="Godoy M" first="M." last="Godoy">M. Godoy</name>
</author>
<author><name sortKey="Ochoa, J J" sort="Ochoa, J J" uniqKey="Ochoa J" first="J. J." last="Ochoa">J. J. Ochoa</name>
</author>
<author><name sortKey="Garcia De Yebenes, J" sort="Garcia De Yebenes, J" uniqKey="Garcia De Yebenes J" first="J." last="García De Yébenes">J. García De Yébenes</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:755ECB26951505E39008C29E4F40D624E1AA96C3</idno>
<date when="2001" year="2001">2001</date>
<idno type="doi">10.1002/mds.1044</idno>
<idno type="url">https://api.istex.fr/document/755ECB26951505E39008C29E4F40D624E1AA96C3/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">002574</idno>
<idno type="wicri:Area/Istex/Curation">002574</idno>
<idno type="wicri:Area/Istex/Checkpoint">002F66</idno>
<idno type="wicri:doubleKey">0885-3185:2001:Hoenicka J:new:nonsense:mutation</idno>
<idno type="wicri:Area/Main/Merge">006C21</idno>
<idno type="wicri:source">INIST</idno>
<idno type="RBID">Pascal:01-0332910</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">002A31</idno>
<idno type="wicri:Area/PascalFrancis/Curation">000290</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">002946</idno>
<idno type="wicri:doubleKey">0885-3185:2001:Hoenicka J:new:nonsense:mutation</idno>
<idno type="wicri:Area/Main/Merge">006E45</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:11295799</idno>
<idno type="wicri:Area/PubMed/Corpus">003D62</idno>
<idno type="wicri:Area/PubMed/Curation">003D62</idno>
<idno type="wicri:Area/PubMed/Checkpoint">003C88</idno>
<idno type="wicri:Area/Ncbi/Merge">000489</idno>
<idno type="wicri:Area/Ncbi/Curation">000489</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">000489</idno>
<idno type="wicri:doubleKey">0885-3185:2001:Hoenicka J:new:nonsense:mutation</idno>
<idno type="wicri:Area/Main/Merge">006990</idno>
<idno type="wicri:Area/Main/Curation">004739</idno>
<idno type="wicri:Area/Main/Exploration">004739</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">New nonsense mutation in the GTP‐cyclohydrolase I gene in L‐DOPA responsive dystonia‐parkinsonism</title>
<author><name sortKey="Hoenicka, J" sort="Hoenicka, J" uniqKey="Hoenicka J" first="J." last="Hoenicka">J. Hoenicka</name>
<affiliation wicri:level="3"><country xml:lang="fr">Espagne</country>
<wicri:regionArea>Banco de Tejidos para Investigaciones Neurológicas, Madrid</wicri:regionArea>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vidal, L" sort="Vidal, L" uniqKey="Vidal L" first="L." last="Vidal">L. Vidal</name>
<affiliation wicri:level="3"><country xml:lang="fr">Espagne</country>
<wicri:regionArea>Banco de Tejidos para Investigaciones Neurológicas, Madrid</wicri:regionArea>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Godoy, M" sort="Godoy, M" uniqKey="Godoy M" first="M." last="Godoy">M. Godoy</name>
<affiliation wicri:level="3"><country xml:lang="fr">Espagne</country>
<wicri:regionArea>Banco de Tejidos para Investigaciones Neurológicas, Madrid</wicri:regionArea>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ochoa, J J" sort="Ochoa, J J" uniqKey="Ochoa J" first="J. J." last="Ochoa">J. J. Ochoa</name>
<affiliation wicri:level="1"><country xml:lang="fr">Espagne</country>
<wicri:regionArea>Hospital Reina Sofía, Córdoba</wicri:regionArea>
<wicri:noRegion>Córdoba</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Garcia De Yebenes, J" sort="Garcia De Yebenes, J" uniqKey="Garcia De Yebenes J" first="J." last="García De Yébenes">J. García De Yébenes</name>
<affiliation wicri:level="3"><country xml:lang="fr">Espagne</country>
<wicri:regionArea>Banco de Tejidos para Investigaciones Neurológicas, Madrid</wicri:regionArea>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">Espagne</country>
<wicri:regionArea>Fundación Jiménez Diaz, Madrid</wicri:regionArea>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="sub">Official Journal of the Movement Disorder Society</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>John Wiley & Sons, Inc.</publisher>
<pubPlace>New York</pubPlace>
<date type="published" when="2001-03">2001-03</date>
<biblScope unit="vol">16</biblScope>
<biblScope unit="issue">2</biblScope>
<biblScope unit="page" from="364">364</biblScope>
<biblScope unit="page" to="366">366</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">755ECB26951505E39008C29E4F40D624E1AA96C3</idno>
<idno type="DOI">10.1002/mds.1044</idno>
<idno type="ArticleID">MDS1044</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Antiparkinson Agents (administration & dosage)</term>
<term>Antiparkinson Agents (therapeutic use)</term>
<term>Antiparkinson agent</term>
<term>Chemotherapy</term>
<term>Codon, Nonsense (genetics)</term>
<term>DNA Mutational Analysis</term>
<term>Dystonia</term>
<term>Dystonia (drug therapy)</term>
<term>Dystonia (enzymology)</term>
<term>Dystonia (genetics)</term>
<term>Family study</term>
<term>Female</term>
<term>GTP Cyclohydrolase (genetics)</term>
<term>GTP Cyclohydrolase (metabolism)</term>
<term>GTP cyclohydrolase I</term>
<term>Gene</term>
<term>Gene Expression (genetics)</term>
<term>Genetic determinism</term>
<term>Human</term>
<term>Humans</term>
<term>Levodopa</term>
<term>Levodopa (administration & dosage)</term>
<term>Levodopa (therapeutic use)</term>
<term>Male</term>
<term>Nonsense mutation</term>
<term>Parkinsonian Disorders (drug therapy)</term>
<term>Parkinsonian Disorders (enzymology)</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Parkinsonism</term>
<term>Pedigree</term>
<term>Point Mutation (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="administration & dosage" xml:lang="en"><term>Antiparkinson Agents</term>
<term>Levodopa</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Codon, Nonsense</term>
<term>GTP Cyclohydrolase</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>GTP Cyclohydrolase</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antiparkinson Agents</term>
<term>Levodopa</term>
</keywords>
<keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Dystonia</term>
<term>Parkinsonian Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Dystonia</term>
<term>Parkinsonian Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term>
<term>Gene Expression</term>
<term>Parkinsonian Disorders</term>
<term>Point Mutation</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Pedigree</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Antiparkinsonien</term>
<term>Chimiothérapie</term>
<term>Dystonie</term>
<term>Déterminisme génétique</term>
<term>Etude familiale</term>
<term>GTP cyclohydrolase I</term>
<term>Gène</term>
<term>Homme</term>
<term>Lévodopa</term>
<term>Mutation non sens</term>
<term>Parkinsonisme</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
</TEI>
<affiliations><list><country><li>Espagne</li>
</country>
<region><li>Communauté de Madrid</li>
</region>
<settlement><li>Madrid</li>
</settlement>
</list>
<tree><country name="Espagne"><region name="Communauté de Madrid"><name sortKey="Hoenicka, J" sort="Hoenicka, J" uniqKey="Hoenicka J" first="J." last="Hoenicka">J. Hoenicka</name>
</region>
<name sortKey="Garcia De Yebenes, J" sort="Garcia De Yebenes, J" uniqKey="Garcia De Yebenes J" first="J." last="García De Yébenes">J. García De Yébenes</name>
<name sortKey="Garcia De Yebenes, J" sort="Garcia De Yebenes, J" uniqKey="Garcia De Yebenes J" first="J." last="García De Yébenes">J. García De Yébenes</name>
<name sortKey="Godoy, M" sort="Godoy, M" uniqKey="Godoy M" first="M." last="Godoy">M. Godoy</name>
<name sortKey="Ochoa, J J" sort="Ochoa, J J" uniqKey="Ochoa J" first="J. J." last="Ochoa">J. J. Ochoa</name>
<name sortKey="Vidal, L" sort="Vidal, L" uniqKey="Vidal L" first="L." last="Vidal">L. Vidal</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 004739 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 004739 | 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:755ECB26951505E39008C29E4F40D624E1AA96C3 |texte= New nonsense mutation in the GTP‐cyclohydrolase I gene in L‐DOPA responsive dystonia‐parkinsonism }}
![]() | This area was generated with Dilib version V0.6.23. | ![]() |