Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene.
Identifieur interne : 002949 ( PubMed/Checkpoint ); précédent : 002948; suivant : 002950Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene.
Auteurs : Stefan Wieczorek ; Larissa Arning ; Elke R. Gizewski ; Ingrid Alheite ; Duymal TimmannSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
Descripteurs français
- Wicri :
- geographic : Allemagne.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Protein Kinase C.
- geographic : Germany.
- genetics : Exons, Spinocerebellar Ataxias.
- pathology : Spinocerebellar Ataxias.
- Aged, Family Health, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Missense, Phenotype.
DOI: 10.1002/mds.21673
PubMed: 17708558
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
pubmed:17708558Le document en format XML
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<author><name sortKey="Wieczorek, Stefan" sort="Wieczorek, Stefan" uniqKey="Wieczorek S" first="Stefan" last="Wieczorek">Stefan Wieczorek</name>
</author>
<author><name sortKey="Arning, Larissa" sort="Arning, Larissa" uniqKey="Arning L" first="Larissa" last="Arning">Larissa Arning</name>
</author>
<author><name sortKey="Gizewski, Elke R" sort="Gizewski, Elke R" uniqKey="Gizewski E" first="Elke R" last="Gizewski">Elke R. Gizewski</name>
</author>
<author><name sortKey="Alheite, Ingrid" sort="Alheite, Ingrid" uniqKey="Alheite I" first="Ingrid" last="Alheite">Ingrid Alheite</name>
</author>
<author><name sortKey="Timmann, Duymal" sort="Timmann, Duymal" uniqKey="Timmann D" first="Duymal" last="Timmann">Duymal Timmann</name>
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<author><name sortKey="Arning, Larissa" sort="Arning, Larissa" uniqKey="Arning L" first="Larissa" last="Arning">Larissa Arning</name>
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<author><name sortKey="Gizewski, Elke R" sort="Gizewski, Elke R" uniqKey="Gizewski E" first="Elke R" last="Gizewski">Elke R. Gizewski</name>
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<author><name sortKey="Alheite, Ingrid" sort="Alheite, Ingrid" uniqKey="Alheite I" first="Ingrid" last="Alheite">Ingrid Alheite</name>
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<author><name sortKey="Timmann, Duymal" sort="Timmann, Duymal" uniqKey="Timmann D" first="Duymal" last="Timmann">Duymal Timmann</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2007" type="published">2007</date>
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<term>Exons (genetics)</term>
<term>Family Health</term>
<term>Female</term>
<term>Germany</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation, Missense</term>
<term>Phenotype</term>
<term>Protein Kinase C (genetics)</term>
<term>Spinocerebellar Ataxias (genetics)</term>
<term>Spinocerebellar Ataxias (pathology)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein Kinase C</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Germany</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term>
<term>Spinocerebellar Ataxias</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Spinocerebellar Ataxias</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Aged</term>
<term>Family Health</term>
<term>Female</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation, Missense</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Allemagne</term>
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<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17708558</PMID>
<DateCreated><Year>2007</Year>
<Month>11</Month>
<Day>05</Day>
</DateCreated>
<DateCompleted><Year>2008</Year>
<Month>02</Month>
<Day>01</Day>
</DateCompleted>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>22</Volume>
<Issue>14</Issue>
<PubDate><Year>2007</Year>
<Month>Oct</Month>
<Day>31</Day>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene.</ArticleTitle>
<Pagination><MedlinePgn>2135-6</MedlinePgn>
</Pagination>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Wieczorek</LastName>
<ForeName>Stefan</ForeName>
<Initials>S</Initials>
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<Author ValidYN="Y"><LastName>Arning</LastName>
<ForeName>Larissa</ForeName>
<Initials>L</Initials>
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<Author ValidYN="Y"><LastName>Gizewski</LastName>
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<Author ValidYN="Y"><LastName>Alheite</LastName>
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<Language>eng</Language>
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<MedlineJournalInfo><Country>United States</Country>
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<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>EC 2.7.1.-</RegistryNumber>
<NameOfSubstance UI="C087857">protein kinase C gamma</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 2.7.11.13</RegistryNumber>
<NameOfSubstance UI="D011493">Protein Kinase C</NameOfSubstance>
</Chemical>
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<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008279">Magnetic Resonance Imaging</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D020125">Mutation, Missense</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D010641">Phenotype</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D011493">Protein Kinase C</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020754">Spinocerebellar Ataxias</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
</MeshHeading>
</MeshHeadingList>
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<Month>8</Month>
<Day>22</Day>
<Hour>9</Hour>
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<PubMedPubDate PubStatus="medline"><Year>2008</Year>
<Month>2</Month>
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<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="doi">10.1002/mds.21673</ArticleId>
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<affiliations><list></list>
<tree><noCountry><name sortKey="Alheite, Ingrid" sort="Alheite, Ingrid" uniqKey="Alheite I" first="Ingrid" last="Alheite">Ingrid Alheite</name>
<name sortKey="Arning, Larissa" sort="Arning, Larissa" uniqKey="Arning L" first="Larissa" last="Arning">Larissa Arning</name>
<name sortKey="Gizewski, Elke R" sort="Gizewski, Elke R" uniqKey="Gizewski E" first="Elke R" last="Gizewski">Elke R. Gizewski</name>
<name sortKey="Timmann, Duymal" sort="Timmann, Duymal" uniqKey="Timmann D" first="Duymal" last="Timmann">Duymal Timmann</name>
<name sortKey="Wieczorek, Stefan" sort="Wieczorek, Stefan" uniqKey="Wieczorek S" first="Stefan" last="Wieczorek">Stefan Wieczorek</name>
</noCountry>
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</record>
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