MovDisordV3, Pmc, Checkpoint, bibRecord, 000249

Mutation in 5’upstream region of GCHI gene causes familial dopa-responsive dystonia

Identifieur interne : 000249 ( Pmc/Checkpoint ); précédent : 000248; suivant : 000250

Mutation in 5’upstream region of GCHI gene causes familial dopa-responsive dystonia

Auteurs : Nutan Sharma ; Ioanna A. Armata ; Trisha J. Multhaupt-Buell ; Laurie J. Ozelius ; Winnie Xin ; Katherine B. Sims

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2011.

RBID : PMC:3175261
Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3175261

DOI: 10.1002/mds.23786
PubMed: 21674621
PubMed Central: 3175261

Affiliations:

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PMC:3175261

Le document en format XML

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I gene causes familial dopa-responsive dystonia</title>
<author><name sortKey="Sharma, Nutan" sort="Sharma, Nutan" uniqKey="Sharma N" first="Nutan" last="Sharma">Nutan Sharma</name>
<affiliation><nlm:aff id="A1"> Department of Neurology, Massachusetts General Hospital</nlm:aff>
<wicri:noCountry code="subfield">Massachusetts General Hospital</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Armata, Ioanna A" sort="Armata, Ioanna A" uniqKey="Armata I" first="Ioanna A." last="Armata">Ioanna A. Armata</name>
<affiliation><nlm:aff id="A1"> Department of Neurology, Massachusetts General Hospital</nlm:aff>
<wicri:noCountry code="subfield">Massachusetts General Hospital</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Multhaupt Buell, Trisha J" sort="Multhaupt Buell, Trisha J" uniqKey="Multhaupt Buell T" first="Trisha J." last="Multhaupt-Buell">Trisha J. Multhaupt-Buell</name>
<affiliation><nlm:aff id="A1"> Department of Neurology, Massachusetts General Hospital</nlm:aff>
<wicri:noCountry code="subfield">Massachusetts General Hospital</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name>
<affiliation><nlm:aff id="A2"> Departments of Genetics and Genomic Sciences and Neurology, Mount Sinai School of Medicine</nlm:aff>
<wicri:noCountry code="subfield">Mount Sinai School of Medicine</wicri:noCountry>
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</author>
<author><name sortKey="Xin, Winnie" sort="Xin, Winnie" uniqKey="Xin W" first="Winnie" last="Xin">Winnie Xin</name>
<affiliation><nlm:aff id="A3"> Department of Neurology and Center for Human Genetic Research, Massachusetts General Hospital</nlm:aff>
<wicri:noCountry code="subfield">Massachusetts General Hospital</wicri:noCountry>
</affiliation>
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<author><name sortKey="Sims, Katherine B" sort="Sims, Katherine B" uniqKey="Sims K" first="Katherine B." last="Sims">Katherine B. Sims</name>
<affiliation><nlm:aff id="A3"> Department of Neurology and Center for Human Genetic Research, Massachusetts General Hospital</nlm:aff>
<wicri:noCountry code="subfield">Massachusetts General Hospital</wicri:noCountry>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutation in 5’upstream region of <italic>GCH</italic>
I gene causes familial dopa-responsive dystonia</title>
<author><name sortKey="Sharma, Nutan" sort="Sharma, Nutan" uniqKey="Sharma N" first="Nutan" last="Sharma">Nutan Sharma</name>
<affiliation><nlm:aff id="A1"> Department of Neurology, Massachusetts General Hospital</nlm:aff>
<wicri:noCountry code="subfield">Massachusetts General Hospital</wicri:noCountry>
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<author><name sortKey="Armata, Ioanna A" sort="Armata, Ioanna A" uniqKey="Armata I" first="Ioanna A." last="Armata">Ioanna A. Armata</name>
<affiliation><nlm:aff id="A1"> Department of Neurology, Massachusetts General Hospital</nlm:aff>
<wicri:noCountry code="subfield">Massachusetts General Hospital</wicri:noCountry>
</affiliation>
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<author><name sortKey="Multhaupt Buell, Trisha J" sort="Multhaupt Buell, Trisha J" uniqKey="Multhaupt Buell T" first="Trisha J." last="Multhaupt-Buell">Trisha J. Multhaupt-Buell</name>
<affiliation><nlm:aff id="A1"> Department of Neurology, Massachusetts General Hospital</nlm:aff>
<wicri:noCountry code="subfield">Massachusetts General Hospital</wicri:noCountry>
</affiliation>
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<author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name>
<affiliation><nlm:aff id="A2"> Departments of Genetics and Genomic Sciences and Neurology, Mount Sinai School of Medicine</nlm:aff>
<wicri:noCountry code="subfield">Mount Sinai School of Medicine</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Xin, Winnie" sort="Xin, Winnie" uniqKey="Xin W" first="Winnie" last="Xin">Winnie Xin</name>
<affiliation><nlm:aff id="A3"> Department of Neurology and Center for Human Genetic Research, Massachusetts General Hospital</nlm:aff>
<wicri:noCountry code="subfield">Massachusetts General Hospital</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Sims, Katherine B" sort="Sims, Katherine B" uniqKey="Sims K" first="Katherine B." last="Sims">Katherine B. Sims</name>
<affiliation><nlm:aff id="A3"> Department of Neurology and Center for Human Genetic Research, Massachusetts General Hospital</nlm:aff>
<wicri:noCountry code="subfield">Massachusetts General Hospital</wicri:noCountry>
</affiliation>
</author>
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<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="2011">2011</date>
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<pmc article-type="research-article" xml:lang="en"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
  <pmc-dir>properties manuscript</pmc-dir>
  <front><journal-meta><journal-id journal-id-type="nlm-journal-id">8610688</journal-id>
<journal-id journal-id-type="pubmed-jr-id">5937</journal-id>
<journal-id journal-id-type="nlm-ta">Mov Disord</journal-id>
<journal-title-group><journal-title>Movement disorders : official journal of the Movement Disorder Society</journal-title>
</journal-title-group>
<issn pub-type="ppub">0885-3185</issn>
<issn pub-type="epub">1531-8257</issn>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">21674621</article-id>
<article-id pub-id-type="pmc">3175261</article-id>
<article-id pub-id-type="doi">10.1002/mds.23786</article-id>
<article-id pub-id-type="manuscript">NIHMS290579</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Mutation in 5’upstream region of <italic>GCH</italic>
I gene causes familial dopa-responsive dystonia</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Sharma</surname>
<given-names>Nutan</given-names>
</name>
<degrees>MD, PhD</degrees>
<xref rid="A1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Armata</surname>
<given-names>Ioanna A.</given-names>
</name>
<degrees>PhD</degrees>
<xref rid="A1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Multhaupt-Buell</surname>
<given-names>Trisha J.</given-names>
</name>
<degrees>MS</degrees>
<xref rid="A1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ozelius</surname>
<given-names>Laurie J.</given-names>
</name>
<degrees>PhD</degrees>
<xref rid="A2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Xin</surname>
<given-names>Winnie</given-names>
</name>
<degrees>PhD</degrees>
<xref rid="A3" ref-type="aff">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Sims</surname>
<given-names>Katherine B.</given-names>
</name>
<degrees>MD</degrees>
<xref rid="A3" ref-type="aff">3</xref>
</contrib>
</contrib-group>
<aff id="A1"><label>1</label>
 Department of Neurology, Massachusetts General Hospital</aff>
<aff id="A2"><label>2</label>
 Departments of Genetics and Genomic Sciences and Neurology, Mount Sinai School of Medicine</aff>
<aff id="A3"><label>3</label>
 Department of Neurology and Center for Human Genetic Research, Massachusetts General Hospital</aff>
<author-notes><corresp id="FN1">Corresponding author: Nutan Sharma, MD PhD, 149 13<sup>th</sup>
 Street, Room 6407, Charlestown MA 02129. <email>nsharma@partners.org</email>
, Phone: 617 643 0841, Fax: 617 643 5689</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>4</day>
<month>5</month>
<year>2011</year>
</pub-date>
<pub-date pub-type="epub"><day>14</day>
<month>6</month>
<year>2011</year>
</pub-date>
<pub-date pub-type="ppub"><month>9</month>
<year>2011</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>1</day>
<month>9</month>
<year>2012</year>
</pub-date>
<volume>26</volume>
<issue>11</issue>
<fpage>2140</fpage>
<lpage>2141</lpage>
<kwd-group><kwd>dopa-responsive</kwd>
<kwd>dystonia</kwd>
<kwd>mutation</kwd>
<kwd>GCH1</kwd>
</kwd-group>
<funding-group><award-group><funding-source country="United States">National Institute of Neurological Disorders and Stroke  : NINDS</funding-source>
<award-id>P50 NS037409-11 || NS</award-id>
</award-group>
</funding-group>
</article-meta>
</front>
</pmc>
<affiliations><list></list>
<tree><noCountry><name sortKey="Armata, Ioanna A" sort="Armata, Ioanna A" uniqKey="Armata I" first="Ioanna A." last="Armata">Ioanna A. Armata</name>
<name sortKey="Multhaupt Buell, Trisha J" sort="Multhaupt Buell, Trisha J" uniqKey="Multhaupt Buell T" first="Trisha J." last="Multhaupt-Buell">Trisha J. Multhaupt-Buell</name>
<name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name>
<name sortKey="Sharma, Nutan" sort="Sharma, Nutan" uniqKey="Sharma N" first="Nutan" last="Sharma">Nutan Sharma</name>
<name sortKey="Sims, Katherine B" sort="Sims, Katherine B" uniqKey="Sims K" first="Katherine B." last="Sims">Katherine B. Sims</name>
<name sortKey="Xin, Winnie" sort="Xin, Winnie" uniqKey="Xin W" first="Winnie" last="Xin">Winnie Xin</name>
</noCountry>
</tree>
</affiliations>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Mutation in 5’upstream region of GCHI gene causes familial dopa-responsive dystonia

Mutation in 5’upstream region of GCHI gene causes familial dopa-responsive dystonia

Source :

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

Pour générer des pages wiki