MovDisordV3, Main, Merge, bibRecord, 002803

Adult-Onset Leg Dystonia Due to a Missense Mutation in THAP1

Identifieur interne : 002803 ( Main/Merge ); précédent : 002802; suivant : 002804

Adult-Onset Leg Dystonia Due to a Missense Mutation in THAP1

Auteurs : Jay A. Van Gerpen [États-Unis] ; Mark S. Ledoux [États-Unis] ; Zbigniew K. Wszolek [États-Unis]

Source :

Movement disorders [ 0885-3185 ] ; 2010.

RBID : Pascal:10-0376211

Descripteurs français

Pascal (Inist)
- Dystonie, Pathologie du système nerveux, Mutation faux sens.

English descriptors

KwdEn :
- Dystonia, Missense mutation, Nervous system diseases.

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 000A40
to stream PascalFrancis, to step Curation: 002279
to stream PascalFrancis, to step Checkpoint: 000C16

Links to Exploration step

Pascal:10-0376211

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">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>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Section of Movement Disorders Department of Neurology, Mayo Clinic</s1>
<s2>Jacksonville, Florida</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ledoux, Mark S" sort="Ledoux, Mark S" uniqKey="Ledoux M" first="Mark S." last="Ledoux">Mark S. Ledoux</name>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Division of Movement Disorders Department of Neurology University of Tennessee Health Sciences Center</s1>
<s2>Memphis, Tennessee</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Tennessee</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Section of Movement Disorders Department of Neurology</s1>
<s2>Mayo Clinic</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Section of Movement Disorders Department of Neurology</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">10-0376211</idno>
<date when="2010">2010</date>
<idno type="stanalyst">PASCAL 10-0376211 INIST</idno>
<idno type="RBID">Pascal:10-0376211</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000A40</idno>
<idno type="wicri:Area/PascalFrancis/Curation">002279</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">000C16</idno>
<idno type="wicri:doubleKey">0885-3185:2010:Van Gerpen J:adult:onset:leg</idno>
<idno type="wicri:Area/Main/Merge">002803</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Section of Movement Disorders Department of Neurology, Mayo Clinic</s1>
<s2>Jacksonville, Florida</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ledoux, Mark S" sort="Ledoux, Mark S" uniqKey="Ledoux M" first="Mark S." last="Ledoux">Mark S. Ledoux</name>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Division of Movement Disorders Department of Neurology University of Tennessee Health Sciences Center</s1>
<s2>Memphis, Tennessee</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Tennessee</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Section of Movement Disorders Department of Neurology</s1>
<s2>Mayo Clinic</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Section of Movement Disorders Department of Neurology</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2010">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Dystonia</term>
<term>Missense mutation</term>
<term>Nervous system diseases</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term>
<term>Pathologie du   système nerveux</term>
<term>Mutation faux sens</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
</TEI>
<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Floride</li>
<li>Tennessee</li>
</region>
</list>
<tree><country name="États-Unis"><region name="Floride"><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>
</region>
<name sortKey="Ledoux, Mark S" sort="Ledoux, Mark S" uniqKey="Ledoux M" first="Mark S." last="Ledoux">Mark S. Ledoux</name>
<name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
</country>
</tree>
</affiliations>
</record>

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{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Main
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   |type=    RBID
   |clé=     Pascal:10-0376211
   |texte=   Adult-Onset Leg Dystonia Due to a Missense Mutation in THAP1
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	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)

Adult-Onset Leg Dystonia Due to a Missense Mutation in THAP1

Adult-Onset Leg Dystonia Due to a Missense Mutation in THAP1

Source :

Descripteurs français

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