Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia
Identifieur interne : 002103 ( Main/Merge ); précédent : 002102; suivant : 002104Genetic 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.
English descriptors
- KwdEn :
- Adult, Aged, Dystonic Disorders (classification), Dystonic Disorders (genetics), Female, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Male, Middle Aged, Molecular Chaperones (genetics), Polymorphism, Single Nucleotide (genetics), 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:
- https://api.istex.fr/document/93F6B314DFCE6FDE969087B4597F4B67F2677FB9/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3095887
DOI: 10.1002/mds.23225
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ISTEX:93F6B314DFCE6FDE969087B4597F4B67F2677FB9Le document en format XML
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Ozelius</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genetics and Genomic Sciences, Beth Israel Medical Center, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mount Sinai School of Medicine, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-10-15">2010-10-15</date><biblScope unit="vol">25</biblScope><biblScope unit="issue">13</biblScope><biblScope unit="page" from="2183">2183</biblScope><biblScope unit="page" to="2187">2187</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">93F6B314DFCE6FDE969087B4597F4B67F2677FB9</idno><idno type="DOI">10.1002/mds.23225</idno><idno type="ArticleID">MDS23225</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Dystonic Disorders (classification)</term><term>Dystonic Disorders (genetics)</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genome-Wide Association Study</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Molecular Chaperones (genetics)</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Young Adult</term><term>focal dystonia</term><term>segmental dystonia</term><term>single nucleotide polymorphisms</term><term>torsinA</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Molecular Chaperones</term></keywords><keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Dystonic Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genome-Wide Association Study</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Young Adult</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><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></TEI><double doi="10.1002/mds.23225"><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia</title><author><name sortKey="Sharma, Nutan" sort="Sharma, Nutan" uniqKey="Sharma N" first="Nutan" last="Sharma">Nutan Sharma</name></author><author><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></author><author><name sortKey="Kuster, John K" sort="Kuster, John K" uniqKey="Kuster J" first="John K." last="Kuster">John K. Kuster</name></author><author><name sortKey="Mitchell, Adele A" sort="Mitchell, Adele A" uniqKey="Mitchell A" first="Adele A." last="Mitchell">Adele A. Mitchell</name></author><author><name sortKey="Fuchs, Tania" sort="Fuchs, Tania" uniqKey="Fuchs T" first="Tania" last="Fuchs">Tania Fuchs</name></author><author><name sortKey="Saunders Ullman, Rachel" sort="Saunders Ullman, Rachel" uniqKey="Saunders Ullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</name></author><author><name sortKey="Raymond, Deborah" sort="Raymond, Deborah" uniqKey="Raymond D" first="Deborah" last="Raymond">Deborah Raymond</name></author><author><name sortKey="Brin, Mitchell F" sort="Brin, Mitchell F" uniqKey="Brin M" first="Mitchell F." last="Brin">Mitchell F. Brin</name></author><author><name sortKey="Blitzer, Andrew" sort="Blitzer, Andrew" uniqKey="Blitzer A" first="Andrew" last="Blitzer">Andrew Blitzer</name></author><author><name sortKey="Bressman, Susan B" sort="Bressman, Susan B" uniqKey="Bressman S" first="Susan B." last="Bressman">Susan B. Bressman</name></author><author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:93F6B314DFCE6FDE969087B4597F4B67F2677FB9</idno><date when="2010" year="2010">2010</date><idno type="doi">10.1002/mds.23225</idno><idno type="url">https://api.istex.fr/document/93F6B314DFCE6FDE969087B4597F4B67F2677FB9/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002C21</idno><idno type="wicri:Area/Istex/Curation">002C21</idno><idno type="wicri:Area/Istex/Checkpoint">000946</idno><idno type="wicri:doubleKey">0885-3185:2010:Sharma N:genetic:evidence:for</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia</title><author><name sortKey="Sharma, Nutan" sort="Sharma, Nutan" uniqKey="Sharma N" first="Nutan" last="Sharma">Nutan Sharma</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><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><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Kuster, John K" sort="Kuster, John K" uniqKey="Kuster J" first="John K." last="Kuster">John K. Kuster</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Mitchell, Adele A" sort="Mitchell, Adele A" uniqKey="Mitchell A" first="Adele A." last="Mitchell">Adele A. Mitchell</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genetics and Genomic Sciences, Beth Israel Medical Center, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Fuchs, Tania" sort="Fuchs, Tania" uniqKey="Fuchs T" first="Tania" last="Fuchs">Tania Fuchs</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genetics and Genomic Sciences, Beth Israel Medical Center, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Saunders Ullman, Rachel" sort="Saunders Ullman, Rachel" uniqKey="Saunders Ullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Beth Israel Medical Center, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Raymond, Deborah" sort="Raymond, Deborah" uniqKey="Raymond D" first="Deborah" last="Raymond">Deborah Raymond</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Beth Israel Medical Center, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Brin, Mitchell F" sort="Brin, Mitchell F" uniqKey="Brin M" first="Mitchell F." last="Brin">Mitchell F. Brin</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of California, Irvine and Allergan, LLC, Irvine, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Blitzer, Andrew" sort="Blitzer, Andrew" uniqKey="Blitzer A" first="Andrew" last="Blitzer">Andrew Blitzer</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>New York Center for Voice and Swallowing Disorders, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Bressman, Susan B" sort="Bressman, Susan B" uniqKey="Bressman S" first="Susan B." last="Bressman">Susan B. Bressman</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Beth Israel Medical Center, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</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"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genetics and Genomic Sciences, Beth Israel Medical Center, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mount Sinai School of Medicine, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-10-15">2010-10-15</date><biblScope unit="vol">25</biblScope><biblScope unit="issue">13</biblScope><biblScope unit="page" from="2183">2183</biblScope><biblScope unit="page" to="2187">2187</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">93F6B314DFCE6FDE969087B4597F4B67F2677FB9</idno><idno type="DOI">10.1002/mds.23225</idno><idno type="ArticleID">MDS23225</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>focal dystonia</term><term>segmental dystonia</term><term>single nucleotide polymorphisms</term><term>torsinA</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><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></TEI></ISTEX><PMC><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genetic evidence for an association of the TOR1A locus with segmental/focal 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="Franco, Ramon A" sort="Franco, Ramon A" uniqKey="Franco R" first="Ramon A" last="Franco">Ramon A. Franco</name><affiliation><nlm:aff id="A2">Department of Otolaryngology, Massachusetts Eye and Ear Infirmary</nlm:aff><wicri:noCountry code="subfield">Massachusetts Eye and Ear Infirmary</wicri:noCountry></affiliation></author><author><name sortKey="Kuster, John" sort="Kuster, John" uniqKey="Kuster J" first="John" last="Kuster">John Kuster</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="Mitchell, Adele A" sort="Mitchell, Adele A" uniqKey="Mitchell A" first="Adele A." last="Mitchell">Adele A. Mitchell</name><affiliation><nlm:aff id="A4">Department of Genetics and Genomic Sciences</nlm:aff></affiliation></author><author><name sortKey="Fuchs, Tania" sort="Fuchs, Tania" uniqKey="Fuchs T" first="Tania" last="Fuchs">Tania Fuchs</name><affiliation><nlm:aff id="A4">Department of Genetics and Genomic Sciences</nlm:aff></affiliation></author><author><name sortKey="Saunders Pullman, Rachel" sort="Saunders Pullman, Rachel" uniqKey="Saunders Pullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</name><affiliation><nlm:aff id="A3">Department of Neurology, Beth Israel Medical Center</nlm:aff><wicri:noCountry code="subfield">Beth Israel Medical Center</wicri:noCountry></affiliation></author><author><name sortKey="Raymond, Deborah" sort="Raymond, Deborah" uniqKey="Raymond D" first="Deborah" last="Raymond">Deborah Raymond</name><affiliation><nlm:aff id="A3">Department of Neurology, Beth Israel Medical Center</nlm:aff><wicri:noCountry code="subfield">Beth Israel Medical Center</wicri:noCountry></affiliation></author><author><name sortKey="Brin, Mitchell F" sort="Brin, Mitchell F" uniqKey="Brin M" first="Mitchell F." last="Brin">Mitchell F. Brin</name><affiliation><nlm:aff id="A6">Department of Neurology, University of California, Irvine and Allergan, LLC, Irvine California</nlm:aff><wicri:noCountry code="subfield">Irvine California</wicri:noCountry></affiliation></author><author><name sortKey="Blitzer, Andrew" sort="Blitzer, Andrew" uniqKey="Blitzer A" first="Andrew" last="Blitzer">Andrew Blitzer</name><affiliation wicri:level="2"><nlm:aff id="A7">New York Center for Voice and Swallowing Disorders, New York, NY</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>New York Center for Voice and Swallowing Disorders, New York</wicri:cityArea></affiliation></author><author><name sortKey="Bressman, Susan B" sort="Bressman, Susan B" uniqKey="Bressman S" first="Susan B." last="Bressman">Susan B. Bressman</name><affiliation><nlm:aff id="A3">Department of Neurology, Beth Israel Medical Center</nlm:aff><wicri:noCountry code="subfield">Beth Israel Medical Center</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="A4">Department of Genetics and Genomic Sciences</nlm:aff></affiliation><affiliation><nlm:aff id="A5">Neurology, Mount Sinai School of Medicine</nlm:aff><wicri:noCountry code="subfield">Mount Sinai School of Medicine</wicri:noCountry></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">20669276</idno><idno type="pmc">3095887</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3095887</idno><idno type="RBID">PMC:3095887</idno><idno type="doi">10.1002/mds.23225</idno><date when="2010">2010</date><idno type="wicri:Area/Pmc/Corpus">000168</idno><idno type="wicri:Area/Pmc/Curation">000168</idno><idno type="wicri:Area/Pmc/Checkpoint">000341</idno><idno type="wicri:source">PubMed</idno><idno type="wicri:Area/PubMed/Corpus">001686</idno><idno type="wicri:Area/PubMed/Curation">001686</idno><idno type="wicri:Area/PubMed/Checkpoint">001863</idno><idno type="wicri:Area/Ncbi/Merge">002D31</idno><idno type="wicri:Area/Ncbi/Curation">002D31</idno><idno type="wicri:Area/Ncbi/Checkpoint">002D31</idno><idno type="wicri:doubleKey">0885-3185:2010:Sharma N:genetic:evidence:for</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Genetic evidence for an association of the TOR1A locus with segmental/focal 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="Franco, Ramon A" sort="Franco, Ramon A" uniqKey="Franco R" first="Ramon A" last="Franco">Ramon A. Franco</name><affiliation><nlm:aff id="A2">Department of Otolaryngology, Massachusetts Eye and Ear Infirmary</nlm:aff><wicri:noCountry code="subfield">Massachusetts Eye and Ear Infirmary</wicri:noCountry></affiliation></author><author><name sortKey="Kuster, John" sort="Kuster, John" uniqKey="Kuster J" first="John" last="Kuster">John Kuster</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="Mitchell, Adele A" sort="Mitchell, Adele A" uniqKey="Mitchell A" first="Adele A." last="Mitchell">Adele A. Mitchell</name><affiliation><nlm:aff id="A4">Department of Genetics and Genomic Sciences</nlm:aff></affiliation></author><author><name sortKey="Fuchs, Tania" sort="Fuchs, Tania" uniqKey="Fuchs T" first="Tania" last="Fuchs">Tania Fuchs</name><affiliation><nlm:aff id="A4">Department of Genetics and Genomic Sciences</nlm:aff></affiliation></author><author><name sortKey="Saunders Pullman, Rachel" sort="Saunders Pullman, Rachel" uniqKey="Saunders Pullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</name><affiliation><nlm:aff id="A3">Department of Neurology, Beth Israel Medical Center</nlm:aff><wicri:noCountry code="subfield">Beth Israel Medical Center</wicri:noCountry></affiliation></author><author><name sortKey="Raymond, Deborah" sort="Raymond, Deborah" uniqKey="Raymond D" first="Deborah" last="Raymond">Deborah Raymond</name><affiliation><nlm:aff id="A3">Department of Neurology, Beth Israel Medical Center</nlm:aff><wicri:noCountry code="subfield">Beth Israel Medical Center</wicri:noCountry></affiliation></author><author><name sortKey="Brin, Mitchell F" sort="Brin, Mitchell F" uniqKey="Brin M" first="Mitchell F." last="Brin">Mitchell F. Brin</name><affiliation><nlm:aff id="A6">Department of Neurology, University of California, Irvine and Allergan, LLC, Irvine California</nlm:aff><wicri:noCountry code="subfield">Irvine California</wicri:noCountry></affiliation></author><author><name sortKey="Blitzer, Andrew" sort="Blitzer, Andrew" uniqKey="Blitzer A" first="Andrew" last="Blitzer">Andrew Blitzer</name><affiliation wicri:level="2"><nlm:aff id="A7">New York Center for Voice and Swallowing Disorders, New York, NY</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>New York Center for Voice and Swallowing Disorders, New York</wicri:cityArea></affiliation></author><author><name sortKey="Bressman, Susan B" sort="Bressman, Susan B" uniqKey="Bressman S" first="Susan B." last="Bressman">Susan B. Bressman</name><affiliation><nlm:aff id="A3">Department of Neurology, Beth Israel Medical Center</nlm:aff><wicri:noCountry code="subfield">Beth Israel Medical Center</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="A4">Department of Genetics and Genomic Sciences</nlm:aff></affiliation><affiliation><nlm:aff id="A5">Neurology, Mount Sinai School of Medicine</nlm:aff><wicri:noCountry code="subfield">Mount Sinai School of Medicine</wicri:noCountry></affiliation></author></analytic><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="2010">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Dystonic Disorders (classification)</term><term>Dystonic Disorders (genetics)</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genome-Wide Association Study</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Molecular Chaperones (genetics)</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Molecular Chaperones</term></keywords><keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Dystonic Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genome-Wide Association Study</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">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.</p></div></front></TEI></PMC></double></record>Pour manipuler ce document sous Unix (Dilib)
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