MovDisordV3, Main, Merge, bibRecord, 001A83

Mutation in 5' Upstream Region of GCHI Gene Causes Familial Dopa-Responsive Dystonia

Identifieur interne : 001A83 ( Main/Merge ); précédent : 001A82; suivant : 001A84

Mutation in 5' Upstream Region of GCHI Gene Causes Familial Dopa-Responsive Dystonia

Auteurs : Nutan Sharma [États-Unis] ; Ioanna A. Armata [États-Unis] ; Trisha J. Multhaupt-Buell [États-Unis] ; Laurie J. Ozelius [États-Unis] ; WINNIE XIN [États-Unis] ; Katherine B. Sims [États-Unis]

Source :

Movement disorders [ 0885-3185 ] ; 2011.

RBID : Pascal:11-0444629

Descripteurs français

Pascal (Inist)
- Maladie de Segawa, Pathologie du système nerveux, Mutation.

English descriptors

KwdEn :
- Mutation, Nervous system diseases, Segawa disease.

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

to stream PascalFrancis, to step Corpus: 000405
to stream PascalFrancis, to step Curation: 002913
to stream PascalFrancis, to step Checkpoint: 000493

Links to Exploration step

Pascal:11-0444629

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Mutation in 5' Upstream Region of GCHI 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 wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Massachusetts General Hospital</s1>
<s2>Boston, Massachusetts</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
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<country>États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
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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 wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Massachusetts General Hospital</s1>
<s2>Boston, Massachusetts</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
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<country>États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
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</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 wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Massachusetts General Hospital</s1>
<s2>Boston, Massachusetts</s2>
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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>
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<author><name sortKey="Winnie Xin" sort="Winnie Xin" uniqKey="Winnie Xin" last="Winnie Xin">WINNIE XIN</name>
<affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Department of Neurology and Center for Human Genetic Research, Massachusetts General Hospital</s1>
<s2>Boston, Massachusetts</s2>
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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>
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<s2>Boston, Massachusetts</s2>
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<publicationStmt><idno type="wicri:source">INIST</idno>
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<date when="2011">2011</date>
<idno type="stanalyst">PASCAL 11-0444629 INIST</idno>
<idno type="RBID">Pascal:11-0444629</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000405</idno>
<idno type="wicri:Area/PascalFrancis/Curation">002913</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">000493</idno>
<idno type="wicri:doubleKey">0885-3185:2011:Sharma N:mutation:in:upstream</idno>
<idno type="wicri:Area/Main/Merge">001A83</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Mutation in 5' Upstream Region of GCHI 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 wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Massachusetts General Hospital</s1>
<s2>Boston, Massachusetts</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
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<country>États-Unis</country>
<placeName><region type="state">Massachusetts</region>
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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 wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Massachusetts General Hospital</s1>
<s2>Boston, Massachusetts</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
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<country>États-Unis</country>
<placeName><region type="state">Massachusetts</region>
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</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 wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Massachusetts General Hospital</s1>
<s2>Boston, Massachusetts</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
</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 wicri:level="2"><inist:fA14 i1="02"><s1>Departments of Genetics and Genomic Sciences and Neurology, Mount Sinai School of Medicine, New York</s1>
<s2>New York</s2>
<s3>USA</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Winnie Xin" sort="Winnie Xin" uniqKey="Winnie Xin" last="Winnie Xin">WINNIE XIN</name>
<affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Department of Neurology and Center for Human Genetic Research, Massachusetts General Hospital</s1>
<s2>Boston, Massachusetts</s2>
<s3>USA</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
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<country>États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
</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 wicri:level="2"><inist:fA14 i1="03"><s1>Department of Neurology and Center for Human Genetic Research, Massachusetts General Hospital</s1>
<s2>Boston, Massachusetts</s2>
<s3>USA</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
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</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="2011">2011</date>
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<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>Mutation</term>
<term>Nervous system diseases</term>
<term>Segawa disease</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Segawa</term>
<term>Pathologie du   système nerveux</term>
<term>Mutation</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
</TEI>
<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Massachusetts</li>
<li>État de New York</li>
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</list>
<tree><country name="États-Unis"><region name="Massachusetts"><name sortKey="Sharma, Nutan" sort="Sharma, Nutan" uniqKey="Sharma N" first="Nutan" last="Sharma">Nutan Sharma</name>
</region>
<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="Sims, Katherine B" sort="Sims, Katherine B" uniqKey="Sims K" first="Katherine B." last="Sims">Katherine B. Sims</name>
<name sortKey="Winnie Xin" sort="Winnie Xin" uniqKey="Winnie Xin" last="Winnie Xin">WINNIE XIN</name>
</country>
</tree>
</affiliations>
</record>

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	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)

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 :

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