Cervical dystonia presenting as a phenocopy in an Irish SCA2 family.
Identifieur interne : 001F10 ( PubMed/Checkpoint ); précédent : 001F09; suivant : 001F11Cervical dystonia presenting as a phenocopy in an Irish SCA2 family.
Auteurs : Richard Walsh ; John P. O'Dwyer ; Sean O'Riordan ; David Bradley ; Joan Moroney ; Michael HutchinsonSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Nerve Tissue Proteins.
- chemical , therapeutic use : Botulinum Toxins, Type A, Neuromuscular Agents.
- geographic : Ireland.
- diagnosis : Torticollis.
- drug therapy : Torticollis.
- genetics : Chromosomes, Human, Pair 12, Torticollis.
- Aged, Alleles, Female, Humans, Pedigree.
DOI: 10.1002/mds.22387
PubMed: 19086087
Affiliations:
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pubmed:19086087Le document en format XML
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O'Dwyer</name></author><author><name sortKey="O Riordan, Sean" sort="O Riordan, Sean" uniqKey="O Riordan S" first="Sean" last="O'Riordan">Sean O'Riordan</name></author><author><name sortKey="Bradley, David" sort="Bradley, David" uniqKey="Bradley D" first="David" last="Bradley">David Bradley</name></author><author><name sortKey="Moroney, Joan" sort="Moroney, Joan" uniqKey="Moroney J" first="Joan" last="Moroney">Joan Moroney</name></author><author><name sortKey="Hutchinson, Michael" sort="Hutchinson, Michael" uniqKey="Hutchinson M" first="Michael" last="Hutchinson">Michael Hutchinson</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2009">2009</date><idno type="doi">10.1002/mds.22387</idno><idno type="RBID">pubmed:19086087</idno><idno type="pmid">19086087</idno><idno type="wicri:Area/PubMed/Corpus">001F06</idno><idno type="wicri:Area/PubMed/Curation">001F06</idno><idno type="wicri:Area/PubMed/Checkpoint">001F10</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Cervical dystonia presenting as a phenocopy in an Irish SCA2 family.</title><author><name sortKey="Walsh, Richard" sort="Walsh, Richard" uniqKey="Walsh R" first="Richard" last="Walsh">Richard Walsh</name></author><author><name sortKey="O Dwyer, John P" sort="O Dwyer, John P" uniqKey="O Dwyer J" first="John P" last="O'Dwyer">John P. O'Dwyer</name></author><author><name sortKey="O Riordan, Sean" sort="O Riordan, Sean" uniqKey="O Riordan S" first="Sean" last="O'Riordan">Sean O'Riordan</name></author><author><name sortKey="Bradley, David" sort="Bradley, David" uniqKey="Bradley D" first="David" last="Bradley">David Bradley</name></author><author><name sortKey="Moroney, Joan" sort="Moroney, Joan" uniqKey="Moroney J" first="Joan" last="Moroney">Joan Moroney</name></author><author><name sortKey="Hutchinson, Michael" sort="Hutchinson, Michael" uniqKey="Hutchinson M" first="Michael" last="Hutchinson">Michael Hutchinson</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2009" type="published">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Alleles</term><term>Botulinum Toxins, Type A (therapeutic use)</term><term>Chromosomes, Human, Pair 12 (genetics)</term><term>Female</term><term>Humans</term><term>Ireland</term><term>Nerve Tissue Proteins (genetics)</term><term>Neuromuscular Agents (therapeutic use)</term><term>Pedigree</term><term>Torticollis (diagnosis)</term><term>Torticollis (drug therapy)</term><term>Torticollis (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Botulinum Toxins, Type A</term><term>Neuromuscular Agents</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Ireland</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Torticollis</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Torticollis</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 12</term><term>Torticollis</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Alleles</term><term>Female</term><term>Humans</term><term>Pedigree</term></keywords></textClass></profileDesc></teiHeader></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">19086087</PMID><DateCreated><Year>2009</Year><Month>03</Month><Day>03</Day></DateCreated><DateCompleted><Year>2009</Year><Month>07</Month><Day>27</Day></DateCompleted><DateRevised><Year>2010</Year><Month>11</Month><Day>18</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>24</Volume><Issue>3</Issue><PubDate><Year>2009</Year><Month>Feb</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Cervical dystonia presenting as a phenocopy in an Irish SCA2 family.</ArticleTitle><Pagination><MedlinePgn>466-7</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22387</ELocationID><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Walsh</LastName><ForeName>Richard</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>O'Dwyer</LastName><ForeName>John P</ForeName><Initials>JP</Initials></Author><Author ValidYN="Y"><LastName>O'Riordan</LastName><ForeName>Sean</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Bradley</LastName><ForeName>David</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Moroney</LastName><ForeName>Joan</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Hutchinson</LastName><ForeName>Michael</ForeName><Initials>M</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016422">Letter</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D009419">Nerve Tissue Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D009465">Neuromuscular Agents</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C102158">SCA2 protein</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.4.24.69</RegistryNumber><NameOfSubstance UI="D019274">Botulinum Toxins, Type A</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000483">Alleles</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D019274">Botulinum Toxins, Type A</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000627">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002881">Chromosomes, Human, Pair 12</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D007494">Ireland</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009419">Nerve Tissue Proteins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009465">Neuromuscular Agents</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000627">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014103">Torticollis</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000188">drug therapy</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2008</Year><Month>12</Month><Day>17</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2008</Year><Month>12</Month><Day>17</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2009</Year><Month>7</Month><Day>28</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.22387</ArticleId><ArticleId IdType="pubmed">19086087</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list></list><tree><noCountry><name sortKey="Bradley, David" sort="Bradley, David" uniqKey="Bradley D" first="David" last="Bradley">David Bradley</name><name sortKey="Hutchinson, Michael" sort="Hutchinson, Michael" uniqKey="Hutchinson M" first="Michael" last="Hutchinson">Michael Hutchinson</name><name sortKey="Moroney, Joan" sort="Moroney, Joan" uniqKey="Moroney J" first="Joan" last="Moroney">Joan Moroney</name><name sortKey="O Dwyer, John P" sort="O Dwyer, John P" uniqKey="O Dwyer J" first="John P" last="O'Dwyer">John P. O'Dwyer</name><name sortKey="O Riordan, Sean" sort="O Riordan, Sean" uniqKey="O Riordan S" first="Sean" last="O'Riordan">Sean O'Riordan</name><name sortKey="Walsh, Richard" sort="Walsh, Richard" uniqKey="Walsh R" first="Richard" last="Walsh">Richard Walsh</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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