The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients.
Identifieur interne : 002522 ( PubMed/Checkpoint ); précédent : 002521; suivant : 002523The (-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 BriceSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
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
Affiliations:
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pubmed:17290458Le 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>
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<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>
</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>
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<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>
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<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
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<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
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<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>
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<Month>05</Month>
<Day>01</Day>
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<DateCompleted><Year>2007</Year>
<Month>07</Month>
<Day>23</Day>
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<JournalIssue CitedMedium="Print"><Volume>22</Volume>
<Issue>5</Issue>
<PubDate><Year>2007</Year>
<Month>Apr</Month>
<Day>15</Day>
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<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>
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<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Cagnoli</LastName>
<ForeName>Claudia</ForeName>
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<Author ValidYN="Y"><LastName>Brussino</LastName>
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<Author ValidYN="Y"><LastName>Di Gregorio</LastName>
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<Author ValidYN="Y"><LastName>Brusco</LastName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
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<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>
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<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>
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