MovDisordV3, PascalFrancis, Corpus, bibRecord, 000868

Genetic Evidence for an Association of the TOR1A Locus with Segmental/Focal Dystonia

Identifieur interne : 000868 ( PascalFrancis/Corpus ); précédent : 000867; suivant : 000869

Genetic Evidence for an Association of the TOR1A Locus with Segmental/Focal Dystonia

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

Source :

Movement disorders [ 0885-3185 ] ; 2010.

RBID : Pascal:10-0474369

Descripteurs français

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

English descriptors

KwdEn :
- Dystonia, Locus, Nervous system diseases, Single nucleotide polymorphism.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A08	`01`	`1`	`ENG`	`@1 Genetic Evidence for an Association of the TOR1A Locus with Segmental/Focal Dystonia`
A11	`01`	`1`		`@1 SHARMA (Nutan)`
A11	`02`	`1`		`@1 FRANCO (Ramon A. JR)`
A11	`03`	`1`		`@1 KUSTER (John K.)`
A11	`04`	`1`		`@1 MITCHELL (Adele A.)`
A11	`05`	`1`		`@1 FUCHS (Tania)`
A11	`06`	`1`		`@1 SAUNDERS-PULLMAN (Rachel)`
A11	`07`	`1`		`@1 RAYMOND (Deborah)`
A11	`08`	`1`		`@1 BRIN (Mitchell F.)`
A11	`09`	`1`		`@1 BLITZER (Andrew)`
A11	`10`	`1`		`@1 BRESSMAN (Susan B.)`
A11	`11`	`1`		`@1 OZELIUS (Laurie J.)`
A14	`01`			`@1 Department of Neurology, Massachusetts General Hospital @2 Boston, Massachusetts @3 USA @Z 1 aut. @Z 3 aut.`
A14	`02`			`@1 Department of Otolaryngology, Massachusetts Eye and Ear Infirmary @2 Boston, Massachusetts @3 USA @Z 2 aut.`
A14	`03`			`@1 Department of Genetics and Genomic Sciences, Beth Israel Medical Center @2 New York, New York @3 USA @Z 4 aut. @Z 5 aut. @Z 11 aut.`
A14	`04`			`@1 Department of Neurology, Beth Israel Medical Center @2 New York, New York @3 USA @Z 6 aut. @Z 7 aut. @Z 10 aut.`
A14	`05`			`@1 Department of Neurology, University of California, Irvine and Allergan, LLC @2 Irvine, California @3 USA @Z 8 aut.`
A14	`06`			`@1 New York Center for Voice and Swallowing Disorders @2 New York, New York @3 USA @Z 9 aut.`
A14	`07`			`@1 Department, of Neurology, Mount Sinai School of Medicine @2 New York, New York @3 USA @Z 11 aut.`
A20				`@1 2183-2187`
A21				`@1 2010`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000193258110250`
A44				`@0 0000 @1 © 2010 INIST-CNRS. All rights reserved.`
A45				`@0 31 ref.`
A47	`01`	`1`		`@0 10-0474369`
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A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
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C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17H`
C03	`01`	`X`	`FRE`	`@0 Dystonie @5 01`
C03	`01`	`X`	`ENG`	`@0 Dystonia @5 01`
C03	`01`	`X`	`SPA`	`@0 Distonía @5 01`
C03	`02`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 02`
C03	`02`	`X`	`ENG`	`@0 Nervous system diseases @5 02`
C03	`02`	`X`	`SPA`	`@0 Sistema nervioso patología @5 02`
C03	`03`	`X`	`FRE`	`@0 Locus @5 09`
C03	`03`	`X`	`ENG`	`@0 Locus @5 09`
C03	`03`	`X`	`SPA`	`@0 Locus @5 09`
C03	`04`	`X`	`FRE`	`@0 Polymorphisme mononucléotide @5 10`
C03	`04`	`X`	`ENG`	`@0 Single nucleotide polymorphism @5 10`
C03	`04`	`X`	`SPA`	`@0 Polimorfismo mononucleótido @5 10`
C07	`01`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 37`
C07	`01`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 37`
C07	`01`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 37`
C07	`02`	`X`	`FRE`	`@0 Mouvement involontaire @5 38`
C07	`02`	`X`	`ENG`	`@0 Involuntary movement @5 38`
C07	`02`	`X`	`SPA`	`@0 Movimiento involuntario @5 38`
C07	`03`	`X`	`FRE`	`@0 Pathologie du muscle strié @5 39`
C07	`03`	`X`	`ENG`	`@0 Striated muscle disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Músculo estriado patología @5 39`
C07	`04`	`X`	`FRE`	`@0 Trouble neurologique @5 41`
C07	`04`	`X`	`ENG`	`@0 Neurological disorder @5 41`
C07	`04`	`X`	`SPA`	`@0 Trastorno neurológico @5 41`
C07	`05`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 42`
C07	`05`	`X`	`ENG`	`@0 Cerebral disorder @5 42`
C07	`05`	`X`	`SPA`	`@0 Encéfalo patología @5 42`
C07	`06`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 43`
C07	`06`	`X`	`ENG`	`@0 Central nervous system disease @5 43`
C07	`06`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 43`
N21				`@1 312`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 10-0474369 INIST
ET :	Genetic Evidence for an Association of the TOR1A Locus with Segmental/Focal Dystonia
AU :	SHARMA (Nutan); FRANCO (Ramon A. JR); KUSTER (John K.); MITCHELL (Adele A.); FUCHS (Tania); SAUNDERS-PULLMAN (Rachel); RAYMOND (Deborah); BRIN (Mitchell F.); BLITZER (Andrew); BRESSMAN (Susan B.); OZELIUS (Laurie J.)
AF :	Department of Neurology, Massachusetts General Hospital/Boston, Massachusetts/Etats-Unis (1 aut., 3 aut.); Department of Otolaryngology, Massachusetts Eye and Ear Infirmary/Boston, Massachusetts/Etats-Unis (2 aut.); Department of Genetics and Genomic Sciences, Beth Israel Medical Center/New York, New York/Etats-Unis (4 aut., 5 aut., 11 aut.); Department of Neurology, Beth Israel Medical Center/New York, New York/Etats-Unis (6 aut., 7 aut., 10 aut.); Department of Neurology, University of California, Irvine and Allergan, LLC/Irvine, California/Etats-Unis (8 aut.); New York Center for Voice and Swallowing Disorders/New York, New York/Etats-Unis (9 aut.); Department, of Neurology, Mount Sinai School of Medicine/New York, New York/Etats-Unis (11 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 13; Pp. 2183-2187; Bibl. 31 ref.
LA :	Anglais
EA :	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.
CC :	002B17; 002B17H
FD :	Dystonie; Pathologie du système nerveux; Locus; Polymorphisme mononucléotide
FG :	Syndrome extrapyramidal; Mouvement involontaire; Pathologie du muscle strié; Trouble neurologique; Pathologie de l'encéphale; Pathologie du système nerveux central
ED :	Dystonia; Nervous system diseases; Locus; Single nucleotide polymorphism
EG :	Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Central nervous system disease
SD :	Distonía; Sistema nervioso patología; Locus; Polimorfismo mononucleótido
LO :	INIST-20953.354000193258110250
ID :	10-0474369

Links to Exploration step

Pascal:10-0474369

Le document en format XML

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<s2>Boston, Massachusetts</s2>
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<author><name sortKey="Saunders Pullman, Rachel" sort="Saunders Pullman, Rachel" uniqKey="Saunders Pullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</name>
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<author><name sortKey="Raymond, Deborah" sort="Raymond, Deborah" uniqKey="Raymond D" first="Deborah" last="Raymond">Deborah Raymond</name>
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<author><name sortKey="Brin, Mitchell F" sort="Brin, Mitchell F" uniqKey="Brin M" first="Mitchell F." last="Brin">Mitchell F. Brin</name>
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<s2>Irvine, California</s2>
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<sZ>8 aut.</sZ>
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<author><name sortKey="Blitzer, Andrew" sort="Blitzer, Andrew" uniqKey="Blitzer A" first="Andrew" last="Blitzer">Andrew Blitzer</name>
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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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<author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name>
<affiliation><inist:fA14 i1="03"><s1>Department of Genetics and Genomic Sciences, Beth Israel Medical Center</s1>
<s2>New York, New York</s2>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
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<imprint><date when="2010">2010</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Dystonia</term>
<term>Locus</term>
<term>Nervous system diseases</term>
<term>Single nucleotide polymorphism</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term>
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<term>Locus</term>
<term>Polymorphisme mononucléotide</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.</div>
</front>
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<fA11 i1="07" i2="1"><s1>RAYMOND (Deborah)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>BRIN (Mitchell F.)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>BLITZER (Andrew)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>BRESSMAN (Susan B.)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>OZELIUS (Laurie J.)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Neurology, Massachusetts General Hospital</s1>
<s2>Boston, Massachusetts</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Department of Otolaryngology, Massachusetts Eye and Ear Infirmary</s1>
<s2>Boston, Massachusetts</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Department of Genetics and Genomic Sciences, Beth Israel Medical Center</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>11 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Department of Neurology, Beth Israel Medical Center</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Department of Neurology, University of California, Irvine and Allergan, LLC</s1>
<s2>Irvine, California</s2>
<s3>USA</s3>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>New York Center for Voice and Swallowing Disorders</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>Department, of Neurology, Mount Sinai School of Medicine</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
</fA14>
<fA20><s1>2183-2187</s1>
</fA20>
<fA21><s1>2010</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000193258110250</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2010 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>31 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>10-0474369</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17H</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Dystonie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Dystonia</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Distonía</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Pathologie du   système nerveux</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Locus</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Locus</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Locus</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Polymorphisme mononucléotide</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Single nucleotide polymorphism</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Polimorfismo mononucleótido</s0>
<s5>10</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Pathologie du muscle strié</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Striated muscle disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Músculo estriado patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>43</s5>
</fC07>
<fN21><s1>312</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 10-0474369 INIST</NO>
<ET>Genetic Evidence for an Association of the TOR1A Locus with Segmental/Focal Dystonia</ET>
<AU>SHARMA (Nutan); FRANCO (Ramon A. JR); KUSTER (John K.); MITCHELL (Adele A.); FUCHS (Tania); SAUNDERS-PULLMAN (Rachel); RAYMOND (Deborah); BRIN (Mitchell F.); BLITZER (Andrew); BRESSMAN (Susan B.); OZELIUS (Laurie J.)</AU>
<AF>Department of Neurology, Massachusetts General Hospital/Boston, Massachusetts/Etats-Unis (1 aut., 3 aut.); Department of Otolaryngology, Massachusetts Eye and Ear Infirmary/Boston, Massachusetts/Etats-Unis (2 aut.); Department of Genetics and Genomic Sciences, Beth Israel Medical Center/New York, New York/Etats-Unis (4 aut., 5 aut., 11 aut.); Department of Neurology, Beth Israel Medical Center/New York, New York/Etats-Unis (6 aut., 7 aut., 10 aut.); Department of Neurology, University of California, Irvine and Allergan, LLC/Irvine, California/Etats-Unis (8 aut.); New York Center for Voice and Swallowing Disorders/New York, New York/Etats-Unis (9 aut.); Department, of Neurology, Mount Sinai School of Medicine/New York, New York/Etats-Unis (11 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 13; Pp. 2183-2187; Bibl. 31 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17H</CC>
<FD>Dystonie; Pathologie du   système nerveux; Locus; Polymorphisme mononucléotide</FD>
<FG>Syndrome extrapyramidal; Mouvement involontaire; Pathologie du muscle strié; Trouble neurologique; Pathologie de l'encéphale; Pathologie du   système nerveux central</FG>
<ED>Dystonia; Nervous system diseases; Locus; Single nucleotide polymorphism</ED>
<EG>Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Central nervous system disease</EG>
<SD>Distonía; Sistema nervioso patología; Locus; Polimorfismo mononucleótido</SD>
<LO>INIST-20953.354000193258110250</LO>
<ID>10-0474369</ID>
</server>
</inist>
</record>

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	Movement Disorders (revue)
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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

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