MovDisordV3, Ncbi, Merge, bibRecord, 001B03

The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients.

Identifieur interne : 001B03 ( Ncbi/Merge ); précédent : 001B02; suivant : 001B04

The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients.

Auteurs : Claudia Cagnoli ; Alessandro Brussino ; Eleonora Di Gregorio ; Alfredo Brusco ; Giovanni Stevanin ; Alexandra Durr ; Alexis Brice

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.

RBID : pubmed:17290458

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.

DOI: 10.1002/mds.21389
PubMed: 17290458

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pubmed:17290458

Le document en format XML

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<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>
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<sourceDesc><biblStruct><analytic><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>
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<author><name sortKey="Di Gregorio, Eleonora" sort="Di Gregorio, Eleonora" uniqKey="Di Gregorio E" first="Eleonora" last="Di Gregorio">Eleonora Di Gregorio</name>
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<author><name sortKey="Brusco, Alfredo" sort="Brusco, Alfredo" uniqKey="Brusco A" first="Alfredo" last="Brusco">Alfredo Brusco</name>
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<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>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<imprint><date when="2007" type="published">2007</date>
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<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>
</profileDesc>
</teiHeader>
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<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17290458</PMID>
<DateCreated><Year>2007</Year>
<Month>05</Month>
<Day>01</Day>
</DateCreated>
<DateCompleted><Year>2007</Year>
<Month>07</Month>
<Day>23</Day>
</DateCompleted>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>22</Volume>
<Issue>5</Issue>
<PubDate><Year>2007</Year>
<Month>Apr</Month>
<Day>15</Day>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients.</ArticleTitle>
<Pagination><MedlinePgn>752-3</MedlinePgn>
</Pagination>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Cagnoli</LastName>
<ForeName>Claudia</ForeName>
<Initials>C</Initials>
</Author>
<Author ValidYN="Y"><LastName>Brussino</LastName>
<ForeName>Alessandro</ForeName>
<Initials>A</Initials>
</Author>
<Author ValidYN="Y"><LastName>Di Gregorio</LastName>
<ForeName>Eleonora</ForeName>
<Initials>E</Initials>
</Author>
<Author ValidYN="Y"><LastName>Brusco</LastName>
<ForeName>Alfredo</ForeName>
<Initials>A</Initials>
</Author>
<Author ValidYN="Y"><LastName>Stevanin</LastName>
<ForeName>Giovanni</ForeName>
<Initials>G</Initials>
</Author>
<Author ValidYN="Y"><LastName>Durr</LastName>
<ForeName>Alexandra</ForeName>
<Initials>A</Initials>
</Author>
<Author ValidYN="Y"><LastName>Brice</LastName>
<ForeName>Alexis</ForeName>
<Initials>A</Initials>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D016422">Letter</PublicationType>
<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
</PublicationTypeList>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D020662">Guanine Nucleotide Exchange Factors</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C503982">PLEKHG4 protein, human</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>12634-43-4</RegistryNumber>
<NameOfSubstance UI="D013049">Spectrin</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D002869">Chromosome Aberrations</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002874">Chromosome Mapping</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D002885">Chromosomes, Human, Pair 16</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D004252">DNA Mutational Analysis</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D005060">Europe</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D044465">European Continental Ancestry Group</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D005799">Genes, Dominant</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D005828">Genetics, Population</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020662">Guanine Nucleotide Exchange Factors</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D013049">Spectrin</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020754">Spinocerebellar Ataxias</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year>
<Month>2</Month>
<Day>10</Day>
<Hour>9</Hour>
<Minute>0</Minute>
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<PubMedPubDate PubStatus="medline"><Year>2007</Year>
<Month>7</Month>
<Day>24</Day>
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<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="doi">10.1002/mds.21389</ArticleId>
<ArticleId IdType="pubmed">17290458</ArticleId>
</ArticleIdList>
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<affiliations><list></list>
<tree><noCountry><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<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="Cagnoli, Claudia" sort="Cagnoli, Claudia" uniqKey="Cagnoli C" first="Claudia" last="Cagnoli">Claudia Cagnoli</name>
<name sortKey="Di Gregorio, Eleonora" sort="Di Gregorio, Eleonora" uniqKey="Di Gregorio E" first="Eleonora" last="Di Gregorio">Eleonora Di Gregorio</name>
<name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
<name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name>
</noCountry>
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</record>

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	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)

The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients.

The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients.

Source :

English descriptors

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