MovDisordV3, Main, Exploration, bibRecord, 001C67

Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia

Identifieur interne : 001C67 ( Main/Exploration ); précédent : 001C66; suivant : 001C68

Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia

Auteurs : Nutan Sharma [États-Unis] ; Ramon A. Franco Jr. [États-Unis] ; John K. Kuster [États-Unis] ; Adele A. Mitchell [États-Unis] ; Tania Fuchs [États-Unis] ; Rachel Saunders-Pullman [États-Unis] ; Deborah Raymond [États-Unis] ; Mitchell F. Brin [États-Unis] ; Andrew Blitzer [États-Unis] ; Susan B. Bressman [États-Unis] ; Laurie J. Ozelius [États-Unis]

Source :

Movement Disorders [ 0885-3185 ] ; 2010-10-15.

RBID : ISTEX:93F6B314DFCE6FDE969087B4597F4B67F2677FB9

Descripteurs français

Pascal (Inist)
- Dystonie, Locus, Pathologie du système nerveux, Polymorphisme mononucléotide.

English descriptors

KwdEn :
- Adult, Aged, Dystonia, Dystonic Disorders (classification), Dystonic Disorders (genetics), Female, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Locus, Male, Middle Aged, Molecular Chaperones (genetics), Nervous system diseases, Polymorphism, Single Nucleotide (genetics), Single nucleotide polymorphism, Young Adult, focal dystonia, segmental dystonia, single nucleotide polymorphisms, torsinA.
MESH :
- chemical , genetics : Molecular Chaperones.
- classification : Dystonic Disorders.
- genetics : Dystonic Disorders, Polymorphism, Single Nucleotide.
- Adult, Aged, Female, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Male, Middle Aged, Young Adult.

Abstract

Polymorphisms in the TOR1A/TOR1B region have been implicated as being associated with primary focal and segmental dystonia. In a cohort of subjects with either focal or segmental dystonia affecting the face, larynx, neck, or arm, we report a strong association of a single nucleotide polymorphism (SNP), the deletion allele at the Mtdel SNP (rs3842225), and protection from focal dystonia. In contrast, we did not find an association of either allele at the D216H SNP (rs1801968) with focal or segmental dystonia in the same cohort. © 2010 Movement Disorder Society

Url:

DOI: 10.1002/mds.23225

Affiliations:

Le document en format XML

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<author><name sortKey="Bressman, Susan B" sort="Bressman, Susan B" uniqKey="Bressman S" first="Susan B." last="Bressman">Susan B. Bressman</name>
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<term>Dystonic Disorders (genetics)</term>
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<term>Gene Frequency</term>
<term>Genetic Predisposition to Disease</term>
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<term>focal dystonia</term>
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<front><div type="abstract" xml:lang="en">Polymorphisms in the TOR1A/TOR1B region have been implicated as being associated with primary focal and segmental dystonia. In a cohort of subjects with either focal or segmental dystonia affecting the face, larynx, neck, or arm, we report a strong association of a single nucleotide polymorphism (SNP), the deletion allele at the Mtdel SNP (rs3842225), and protection from focal dystonia. In contrast, we did not find an association of either allele at the D216H SNP (rs1801968) with focal or segmental dystonia in the same cohort. © 2010 Movement Disorder Society</div>
</front>
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<name sortKey="Blitzer, Andrew" sort="Blitzer, Andrew" uniqKey="Blitzer A" first="Andrew" last="Blitzer">Andrew Blitzer</name>
<name sortKey="Bressman, Susan B" sort="Bressman, Susan B" uniqKey="Bressman S" first="Susan B." last="Bressman">Susan B. Bressman</name>
<name sortKey="Brin, Mitchell F" sort="Brin, Mitchell F" uniqKey="Brin M" first="Mitchell F." last="Brin">Mitchell F. Brin</name>
<name sortKey="Franco Jr, Ramon A" sort="Franco Jr, Ramon A" uniqKey="Franco Jr R" first="Ramon A." last="Franco Jr.">Ramon A. Franco Jr.</name>
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<name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name>
<name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name>
<name sortKey="Raymond, Deborah" sort="Raymond, Deborah" uniqKey="Raymond D" first="Deborah" last="Raymond">Deborah Raymond</name>
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Movement Disorders (revue)

Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia

Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia

Source :

Descripteurs français

English descriptors

Abstract

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

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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