The (−16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients
Identifieur interne : 002B42 ( Main/Exploration ); précédent : 002B41; suivant : 002B43The (−16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients
Auteurs : Claudia Cagnoli [Italie] ; Alessandro Brussino [Italie] ; Eleonora Di Gregorio [Italie] ; Alfredo Brusco [Italie] ; Giovanni Stevanin [France] ; Alexandra Durr [France] ; Alexis Brice [France]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-04-15.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Chromosome Aberrations, Chromosome Mapping, Chromosomes, Human, Pair 16, DNA Mutational Analysis, Europe, European Continental Ancestry Group (genetics), Female, Genes, Dominant, Genetics, Population, Guanine Nucleotide Exchange Factors (genetics), Humans, Male, Middle Aged, Spectrin (genetics), Spinocerebellar Ataxias (diagnosis), Spinocerebellar Ataxias (genetics).
- MESH :
- chemical , genetics : Guanine Nucleotide Exchange Factors, Spectrin.
- geographic : Europe.
- diagnosis : Spinocerebellar Ataxias.
- genetics : European Continental Ancestry Group, Spinocerebellar Ataxias.
- Adolescent, Adult, Aged, Chromosome Aberrations, Chromosome Mapping, Chromosomes, Human, Pair 16, DNA Mutational Analysis, Female, Genes, Dominant, Genetics, Population, Humans, Male, Middle Aged.
Url:
DOI: 10.1002/mds.21389
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 004011
- to stream Istex, to step Curation: 004011
- to stream Istex, to step Checkpoint: 001650
- to stream PubMed, to step Corpus: 002836
- to stream PubMed, to step Curation: 002836
- to stream PubMed, to step Checkpoint: 002522
- to stream Ncbi, to step Merge: 001B03
- to stream Ncbi, to step Curation: 001B03
- to stream Ncbi, to step Checkpoint: 001B03
- to stream Main, to step Merge: 003A64
- to stream Main, to step Curation: 002B42
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">The (−16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients</title>
<author><name sortKey="Cagnoli, Claudia" sort="Cagnoli, Claudia" uniqKey="Cagnoli C" first="Claudia" last="Cagnoli">Claudia Cagnoli</name>
</author>
<author><name sortKey="Brussino, Alessandro" sort="Brussino, Alessandro" uniqKey="Brussino A" first="Alessandro" last="Brussino">Alessandro Brussino</name>
</author>
<author><name sortKey="Di Gregorio, Eleonora" sort="Di Gregorio, Eleonora" uniqKey="Di Gregorio E" first="Eleonora" last="Di Gregorio">Eleonora Di Gregorio</name>
</author>
<author><name sortKey="Brusco, Alfredo" sort="Brusco, Alfredo" uniqKey="Brusco A" first="Alfredo" last="Brusco">Alfredo Brusco</name>
</author>
<author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name>
</author>
<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:3FEB49D76636FAC44F81ECB5D6A12A60408DADCF</idno>
<date when="2007" year="2007">2007</date>
<idno type="doi">10.1002/mds.21389</idno>
<idno type="url">https://api.istex.fr/document/3FEB49D76636FAC44F81ECB5D6A12A60408DADCF/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">004011</idno>
<idno type="wicri:Area/Istex/Curation">004011</idno>
<idno type="wicri:Area/Istex/Checkpoint">001650</idno>
<idno type="wicri:doubleKey">0885-3185:2007:Cagnoli C:the:c:gt</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:17290458</idno>
<idno type="wicri:Area/PubMed/Corpus">002836</idno>
<idno type="wicri:Area/PubMed/Curation">002836</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002522</idno>
<idno type="wicri:Area/Ncbi/Merge">001B03</idno>
<idno type="wicri:Area/Ncbi/Curation">001B03</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">001B03</idno>
<idno type="wicri:doubleKey">0885-3185:2007:Cagnoli C:the:c:gt</idno>
<idno type="wicri:Area/Main/Merge">003A64</idno>
<idno type="wicri:Area/Main/Curation">002B42</idno>
<idno type="wicri:Area/Main/Exploration">002B42</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">The (−16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients</title>
<author><name sortKey="Cagnoli, Claudia" sort="Cagnoli, Claudia" uniqKey="Cagnoli C" first="Claudia" last="Cagnoli">Claudia Cagnoli</name>
<affiliation wicri:level="3"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Genetics Biology and Biochemistry, University of Turin and San Giovanni Battista Hospital, Medical Genetics Unit, Turin</wicri:regionArea>
<placeName><settlement type="city">Turin</settlement>
<region type="région" nuts="2">Piémont</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Brussino, Alessandro" sort="Brussino, Alessandro" uniqKey="Brussino A" first="Alessandro" last="Brussino">Alessandro Brussino</name>
<affiliation wicri:level="3"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Genetics Biology and Biochemistry, University of Turin and San Giovanni Battista Hospital, Medical Genetics Unit, Turin</wicri:regionArea>
<placeName><settlement type="city">Turin</settlement>
<region type="région" nuts="2">Piémont</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Di Gregorio, Eleonora" sort="Di Gregorio, Eleonora" uniqKey="Di Gregorio E" first="Eleonora" last="Di Gregorio">Eleonora Di Gregorio</name>
<affiliation wicri:level="3"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Genetics Biology and Biochemistry, University of Turin and San Giovanni Battista Hospital, Medical Genetics Unit, Turin</wicri:regionArea>
<placeName><settlement type="city">Turin</settlement>
<region type="région" nuts="2">Piémont</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Brusco, Alfredo" sort="Brusco, Alfredo" uniqKey="Brusco A" first="Alfredo" last="Brusco">Alfredo Brusco</name>
<affiliation wicri:level="3"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Genetics Biology and Biochemistry, University of Turin and San Giovanni Battista Hospital, Medical Genetics Unit, Turin</wicri:regionArea>
<placeName><settlement type="city">Turin</settlement>
<region type="région" nuts="2">Piémont</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Department of Genetics Cytogenetics and Embryology, INSERM, UMR679, and APHP, Salpetriere Hospital, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Department of Genetics Cytogenetics and Embryology, INSERM, UMR679, and APHP, Salpetriere Hospital, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Department of Genetics Cytogenetics and Embryology, INSERM, UMR679, and APHP, Salpetriere Hospital, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</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="2007-04-15">2007-04-15</date>
<biblScope unit="vol">22</biblScope>
<biblScope unit="issue">5</biblScope>
<biblScope unit="page" from="752">752</biblScope>
<biblScope unit="page" to="753">753</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">3FEB49D76636FAC44F81ECB5D6A12A60408DADCF</idno>
<idno type="DOI">10.1002/mds.21389</idno>
<idno type="ArticleID">MDS21389</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Chromosome Aberrations</term>
<term>Chromosome Mapping</term>
<term>Chromosomes, Human, Pair 16</term>
<term>DNA Mutational Analysis</term>
<term>Europe</term>
<term>European Continental Ancestry Group (genetics)</term>
<term>Female</term>
<term>Genes, Dominant</term>
<term>Genetics, Population</term>
<term>Guanine Nucleotide Exchange Factors (genetics)</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Spectrin (genetics)</term>
<term>Spinocerebellar Ataxias (diagnosis)</term>
<term>Spinocerebellar Ataxias (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Guanine Nucleotide Exchange Factors</term>
<term>Spectrin</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Europe</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Spinocerebellar Ataxias</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>European Continental Ancestry Group</term>
<term>Spinocerebellar Ataxias</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Chromosome Aberrations</term>
<term>Chromosome Mapping</term>
<term>Chromosomes, Human, Pair 16</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Genes, Dominant</term>
<term>Genetics, Population</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
</TEI>
<affiliations><list><country><li>France</li>
<li>Italie</li>
</country>
<region><li>Piémont</li>
</region>
<settlement><li>Paris</li>
<li>Turin</li>
</settlement>
</list>
<tree><country name="Italie"><region name="Piémont"><name sortKey="Cagnoli, Claudia" sort="Cagnoli, Claudia" uniqKey="Cagnoli C" first="Claudia" last="Cagnoli">Claudia Cagnoli</name>
</region>
<name sortKey="Brusco, Alfredo" sort="Brusco, Alfredo" uniqKey="Brusco A" first="Alfredo" last="Brusco">Alfredo Brusco</name>
<name sortKey="Brussino, Alessandro" sort="Brussino, Alessandro" uniqKey="Brussino A" first="Alessandro" last="Brussino">Alessandro Brussino</name>
<name sortKey="Di Gregorio, Eleonora" sort="Di Gregorio, Eleonora" uniqKey="Di Gregorio E" first="Eleonora" last="Di Gregorio">Eleonora Di Gregorio</name>
</country>
<country name="France"><noRegion><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name>
</noRegion>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</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 002B42 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 002B42 | 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:3FEB49D76636FAC44F81ECB5D6A12A60408DADCF |texte= The (−16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients }}
![]() | This area was generated with Dilib version V0.6.23. | ![]() |