MovDisordV3, PascalFrancis, Checkpoint, bibRecord, 001F12

Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat

Identifieur interne : 001F12 ( PascalFrancis/Checkpoint ); précédent : 001F11; suivant : 001F13

Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat

Auteurs : Spiridon Papapetropoulos [États-Unis] ; Roberto Lopez-Alberola [États-Unis] ; Lisa Baumbach [États-Unis] ; Angela Russell [États-Unis] ; Manuel A. Gonzalez [États-Unis] ; Brian C. Bowen [États-Unis] ; Carlos Singer [États-Unis]

Source :

Movement disorders [ 0885-3185 ] ; 2005.

RBID : Pascal:06-0002756

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Chorée Huntington, Trinucléotide.

English descriptors

KwdEn :
- Huntington disease, Nervous system diseases, Trinucleotide.

Abstract

We describe and present a video of a patient with maternally inherited juvenile Huntington's disease (HD) caused by a very large (108-repeat) expansion. Maternally transmitted very large trinucleotide repeats (>100) are extremely rare in juvenile HD and may represent instability during female gametogenesis.

Affiliations:

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

to stream PascalFrancis, to step Corpus: 001D20
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Links to Exploration step

Pascal:06-0002756

Le document en format XML

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<author><name sortKey="Papapetropoulos, Spiridon" sort="Papapetropoulos, Spiridon" uniqKey="Papapetropoulos S" first="Spiridon" last="Papapetropoulos">Spiridon Papapetropoulos</name>
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<author><name sortKey="Lopez Alberola, Roberto" sort="Lopez Alberola, Roberto" uniqKey="Lopez Alberola R" first="Roberto" last="Lopez-Alberola">Roberto Lopez-Alberola</name>
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<author><name sortKey="Baumbach, Lisa" sort="Baumbach, Lisa" uniqKey="Baumbach L" first="Lisa" last="Baumbach">Lisa Baumbach</name>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Pediatrics, University of Miami, School of Medicine</s1>
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<author><name sortKey="Russell, Angela" sort="Russell, Angela" uniqKey="Russell A" first="Angela" last="Russell">Angela Russell</name>
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<author><name sortKey="Gonzalez, Manuel A" sort="Gonzalez, Manuel A" uniqKey="Gonzalez M" first="Manuel A." last="Gonzalez">Manuel A. Gonzalez</name>
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<author><name sortKey="Bowen, Brian C" sort="Bowen, Brian C" uniqKey="Bowen B" first="Brian C." last="Bowen">Brian C. Bowen</name>
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<author><name sortKey="Singer, Carlos" sort="Singer, Carlos" uniqKey="Singer C" first="Carlos" last="Singer">Carlos Singer</name>
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<s2>Miami, Florida</s2>
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<idno type="inist">06-0002756</idno>
<date when="2005">2005</date>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat</title>
<author><name sortKey="Papapetropoulos, Spiridon" sort="Papapetropoulos, Spiridon" uniqKey="Papapetropoulos S" first="Spiridon" last="Papapetropoulos">Spiridon Papapetropoulos</name>
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<author><name sortKey="Lopez Alberola, Roberto" sort="Lopez Alberola, Roberto" uniqKey="Lopez Alberola R" first="Roberto" last="Lopez-Alberola">Roberto Lopez-Alberola</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, University of Miami, School of Medicine</s1>
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<country>États-Unis</country>
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</author>
<author><name sortKey="Baumbach, Lisa" sort="Baumbach, Lisa" uniqKey="Baumbach L" first="Lisa" last="Baumbach">Lisa Baumbach</name>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Pediatrics, University of Miami, School of Medicine</s1>
<s2>Miami, Florida</s2>
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<author><name sortKey="Russell, Angela" sort="Russell, Angela" uniqKey="Russell A" first="Angela" last="Russell">Angela Russell</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, University of Miami, School of Medicine</s1>
<s2>Miami, Florida</s2>
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</author>
<author><name sortKey="Gonzalez, Manuel A" sort="Gonzalez, Manuel A" uniqKey="Gonzalez M" first="Manuel A." last="Gonzalez">Manuel A. Gonzalez</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, University of Miami, School of Medicine</s1>
<s2>Miami, Florida</s2>
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<author><name sortKey="Bowen, Brian C" sort="Bowen, Brian C" uniqKey="Bowen B" first="Brian C." last="Bowen">Brian C. Bowen</name>
<affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Department of Radiology, University of Miami, School of Medicine</s1>
<s2>Miami, Florida</s2>
<s3>USA</s3>
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<country>États-Unis</country>
<placeName><region type="state">Floride</region>
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<author><name sortKey="Singer, Carlos" sort="Singer, Carlos" uniqKey="Singer C" first="Carlos" last="Singer">Carlos Singer</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, University of Miami, School of Medicine</s1>
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</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="2005">2005</date>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Huntington disease</term>
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<term>Trinucléotide</term>
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</teiHeader>
<front><div type="abstract" xml:lang="en">We describe and present a video of a patient with maternally inherited juvenile Huntington's disease (HD) caused by a very large (108-repeat) expansion. Maternally transmitted very large trinucleotide repeats (>100) are extremely rare in juvenile HD and may represent instability during female gametogenesis.</div>
</front>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat

Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat

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Descripteurs français

English descriptors

Abstract

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