Adult-Onset Leg Dystonia Due to a Missense Mutation in THAP1
Identifieur interne : 002C71 ( Ncbi/Merge ); précédent : 002C70; suivant : 002C72Adult-Onset Leg Dystonia Due to a Missense Mutation in THAP1
Auteurs : Jay A. Van Gerpen ; Mark S. Ledoux ; Zbigniew K. WszolekSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2010.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Apoptosis Regulatory Proteins, DNA-Binding Proteins, Nuclear Proteins.
- genetics : Dystonic Disorders, Mutation, Missense.
- pathology : Dystonic Disorders.
- physiopathology : Leg.
- Humans, Male, Middle Aged.
Url:
DOI: 10.1002/mds.23086
PubMed: 20629133
PubMed Central: 3902655
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 000225
- to stream Pmc, to step Curation: 000225
- to stream Pmc, to step Checkpoint: 000369
- to stream PubMed, to step Corpus: 001746
- to stream PubMed, to step Curation: 001746
- to stream PubMed, to step Checkpoint: 001A54
Links to Exploration step
PMC:3902655Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Adult-Onset Leg Dystonia Due to a Missense Mutation in <italic>THAP1</italic>
</title>
<author><name sortKey="Van Gerpen, Jay A" sort="Van Gerpen, Jay A" uniqKey="Van Gerpen J" first="Jay A." last="Van Gerpen">Jay A. Van Gerpen</name>
</author>
<author><name sortKey="Ledoux, Mark S" sort="Ledoux, Mark S" uniqKey="Ledoux M" first="Mark S." last="Ledoux">Mark S. Ledoux</name>
</author>
<author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">20629133</idno>
<idno type="pmc">3902655</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3902655</idno>
<idno type="RBID">PMC:3902655</idno>
<idno type="doi">10.1002/mds.23086</idno>
<date when="2010">2010</date>
<idno type="wicri:Area/Pmc/Corpus">000225</idno>
<idno type="wicri:Area/Pmc/Curation">000225</idno>
<idno type="wicri:Area/Pmc/Checkpoint">000369</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="wicri:Area/PubMed/Corpus">001746</idno>
<idno type="wicri:Area/PubMed/Curation">001746</idno>
<idno type="wicri:Area/PubMed/Checkpoint">001A54</idno>
<idno type="wicri:Area/Ncbi/Merge">002C71</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Adult-Onset Leg Dystonia Due to a Missense Mutation in <italic>THAP1</italic>
</title>
<author><name sortKey="Van Gerpen, Jay A" sort="Van Gerpen, Jay A" uniqKey="Van Gerpen J" first="Jay A." last="Van Gerpen">Jay A. Van Gerpen</name>
</author>
<author><name sortKey="Ledoux, Mark S" sort="Ledoux, Mark S" uniqKey="Ledoux M" first="Mark S." last="Ledoux">Mark S. Ledoux</name>
</author>
<author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2010">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Apoptosis Regulatory Proteins (genetics)</term>
<term>DNA-Binding Proteins (genetics)</term>
<term>Dystonic Disorders (genetics)</term>
<term>Dystonic Disorders (pathology)</term>
<term>Humans</term>
<term>Leg (physiopathology)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation, Missense (genetics)</term>
<term>Nuclear Proteins (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Apoptosis Regulatory Proteins</term>
<term>DNA-Binding Proteins</term>
<term>Nuclear Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term>
<term>Mutation, Missense</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Dystonic Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Leg</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
</TEI>
<double pmid="20629133"><pmc><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Adult-Onset Leg Dystonia Due to a Missense Mutation in <italic>THAP1</italic>
</title>
<author><name sortKey="Van Gerpen, Jay A" sort="Van Gerpen, Jay A" uniqKey="Van Gerpen J" first="Jay A." last="Van Gerpen">Jay A. Van Gerpen</name>
</author>
<author><name sortKey="Ledoux, Mark S" sort="Ledoux, Mark S" uniqKey="Ledoux M" first="Mark S." last="Ledoux">Mark S. Ledoux</name>
</author>
<author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">20629133</idno>
<idno type="pmc">3902655</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3902655</idno>
<idno type="RBID">PMC:3902655</idno>
<idno type="doi">10.1002/mds.23086</idno>
<date when="2010">2010</date>
<idno type="wicri:Area/Pmc/Corpus">000225</idno>
<idno type="wicri:Area/Pmc/Curation">000225</idno>
<idno type="wicri:Area/Pmc/Checkpoint">000369</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Adult-Onset Leg Dystonia Due to a Missense Mutation in <italic>THAP1</italic>
</title>
<author><name sortKey="Van Gerpen, Jay A" sort="Van Gerpen, Jay A" uniqKey="Van Gerpen J" first="Jay A." last="Van Gerpen">Jay A. Van Gerpen</name>
</author>
<author><name sortKey="Ledoux, Mark S" sort="Ledoux, Mark S" uniqKey="Ledoux M" first="Mark S." last="Ledoux">Mark S. Ledoux</name>
</author>
<author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2010">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
</TEI>
</pmc>
<pubmed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Adult-onset leg dystonia due to a missense mutation in THAP1.</title>
<author><name sortKey="Van Gerpen, Jay A" sort="Van Gerpen, Jay A" uniqKey="Van Gerpen J" first="Jay A" last="Van Gerpen">Jay A. Van Gerpen</name>
</author>
<author><name sortKey="Ledoux, Mark S" sort="Ledoux, Mark S" uniqKey="Ledoux M" first="Mark S" last="Ledoux">Mark S. Ledoux</name>
</author>
<author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K" last="Wszolek">Zbigniew K. Wszolek</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2010">2010</date>
<idno type="doi">10.1002/mds.23086</idno>
<idno type="RBID">pubmed:20629133</idno>
<idno type="pmid">20629133</idno>
<idno type="wicri:Area/PubMed/Corpus">001746</idno>
<idno type="wicri:Area/PubMed/Curation">001746</idno>
<idno type="wicri:Area/PubMed/Checkpoint">001A54</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Adult-onset leg dystonia due to a missense mutation in THAP1.</title>
<author><name sortKey="Van Gerpen, Jay A" sort="Van Gerpen, Jay A" uniqKey="Van Gerpen J" first="Jay A" last="Van Gerpen">Jay A. Van Gerpen</name>
</author>
<author><name sortKey="Ledoux, Mark S" sort="Ledoux, Mark S" uniqKey="Ledoux M" first="Mark S" last="Ledoux">Mark S. Ledoux</name>
</author>
<author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K" last="Wszolek">Zbigniew K. Wszolek</name>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2010" type="published">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Apoptosis Regulatory Proteins (genetics)</term>
<term>DNA-Binding Proteins (genetics)</term>
<term>Dystonic Disorders (genetics)</term>
<term>Dystonic Disorders (pathology)</term>
<term>Humans</term>
<term>Leg (physiopathology)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation, Missense (genetics)</term>
<term>Nuclear Proteins (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Apoptosis Regulatory Proteins</term>
<term>DNA-Binding Proteins</term>
<term>Nuclear Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term>
<term>Mutation, Missense</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Dystonic Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Leg</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
</TEI>
</pubmed>
</double>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Merge
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002C71 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Merge/biblio.hfd -nk 002C71 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Ncbi |étape= Merge |type= RBID |clé= PMC:3902655 |texte= Adult-Onset Leg Dystonia Due to a Missense Mutation in THAP1 }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Merge/RBID.i -Sk "pubmed:20629133" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Merge/biblio.hfd \ | NlmPubMed2Wicri -a MovDisordV3
![]() | This area was generated with Dilib version V0.6.23. | ![]() |