Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene.
Identifieur interne : 001E01 ( Ncbi/Curation ); précédent : 001E00; suivant : 001E02Benign 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
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :002558
- to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :002558
- to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :002949
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :001E01
Links to Exploration step
pubmed:17708558Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene.</title>
<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>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2007">2007</date>
<idno type="doi">10.1002/mds.21673</idno>
<idno type="RBID">pubmed:17708558</idno>
<idno type="pmid">17708558</idno>
<idno type="wicri:Area/PubMed/Corpus">002558</idno>
<idno type="wicri:Area/PubMed/Curation">002558</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002949</idno>
<idno type="wicri:Area/Ncbi/Merge">001E01</idno>
<idno type="wicri:Area/Ncbi/Curation">001E01</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene.</title>
<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>
</author>
</analytic>
<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>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term>
<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>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
</TEI>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001E01 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd -nk 001E01 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Ncbi |étape= Curation |type= RBID |clé= pubmed:17708558 |texte= Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/RBID.i -Sk "pubmed:17708558" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd \ | NlmPubMed2Wicri -a MovDisordV3
This area was generated with Dilib version V0.6.23. |