Fragile X-associated tremor/ataxia syndrome (FXTAS) with myoclonus.
Identifieur interne : 001A29 ( PubMed/Corpus ); précédent : 001A28; suivant : 001A30Fragile X-associated tremor/ataxia syndrome (FXTAS) with myoclonus.
Auteurs : Kathleen L. Poston ; Robert A. Mcgovern ; Jill S. Goldman ; Elise Caccappolo ; Pietro MazzoniSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Fragile X Mental Retardation Protein.
- complications : Ataxia, Fragile X Syndrome, Myoclonus, Tremor.
- genetics : Fragile X Syndrome.
- pathology : Brain.
- Humans, Magnetic Resonance Imaging, Male, Middle Aged.
DOI: 10.1002/mds.22929
PubMed: 20063436
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pubmed:20063436Le document en format XML
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Goldman</name></author><author><name sortKey="Caccappolo, Elise" sort="Caccappolo, Elise" uniqKey="Caccappolo E" first="Elise" last="Caccappolo">Elise Caccappolo</name></author><author><name sortKey="Mazzoni, Pietro" sort="Mazzoni, Pietro" uniqKey="Mazzoni P" first="Pietro" last="Mazzoni">Pietro Mazzoni</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2010">2010</date><idno type="doi">10.1002/mds.22929</idno><idno type="RBID">pubmed:20063436</idno><idno type="pmid">20063436</idno><idno type="wicri:Area/PubMed/Corpus">001A29</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Fragile X-associated tremor/ataxia syndrome (FXTAS) with myoclonus.</title><author><name sortKey="Poston, Kathleen L" sort="Poston, Kathleen L" uniqKey="Poston K" first="Kathleen L" last="Poston">Kathleen L. Poston</name></author><author><name sortKey="Mcgovern, Robert A" sort="Mcgovern, Robert A" uniqKey="Mcgovern R" first="Robert A" last="Mcgovern">Robert A. Mcgovern</name></author><author><name sortKey="Goldman, Jill S" sort="Goldman, Jill S" uniqKey="Goldman J" first="Jill S" last="Goldman">Jill S. Goldman</name></author><author><name sortKey="Caccappolo, Elise" sort="Caccappolo, Elise" uniqKey="Caccappolo E" first="Elise" last="Caccappolo">Elise Caccappolo</name></author><author><name sortKey="Mazzoni, Pietro" sort="Mazzoni, Pietro" uniqKey="Mazzoni P" first="Pietro" last="Mazzoni">Pietro Mazzoni</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="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Ataxia (complications)</term><term>Brain (pathology)</term><term>Fragile X Mental Retardation Protein (genetics)</term><term>Fragile X Syndrome (complications)</term><term>Fragile X Syndrome (genetics)</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Myoclonus (complications)</term><term>Tremor (complications)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Fragile X Mental Retardation Protein</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Ataxia</term><term>Fragile X Syndrome</term><term>Myoclonus</term><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Fragile X Syndrome</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">20063436</PMID><DateCreated><Year>2010</Year><Month>03</Month><Day>23</Day></DateCreated><DateCompleted><Year>2010</Year><Month>08</Month><Day>10</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>25</Volume><Issue>4</Issue><PubDate><Year>2010</Year><Month>Mar</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Fragile X-associated tremor/ataxia syndrome (FXTAS) with myoclonus.</ArticleTitle><Pagination><MedlinePgn>514-6</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22929</ELocationID><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Poston</LastName><ForeName>Kathleen L</ForeName><Initials>KL</Initials></Author><Author ValidYN="Y"><LastName>McGovern</LastName><ForeName>Robert A</ForeName><Initials>RA</Initials></Author><Author ValidYN="Y"><LastName>Goldman</LastName><ForeName>Jill S</ForeName><Initials>JS</Initials></Author><Author ValidYN="Y"><LastName>Caccappolo</LastName><ForeName>Elise</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Mazzoni</LastName><ForeName>Pietro</ForeName><Initials>P</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="C497683">FMR1 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>139135-51-6</RegistryNumber><NameOfSubstance UI="D051860">Fragile X Mental Retardation Protein</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001259">Ataxia</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001921">Brain</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D051860">Fragile X Mental Retardation Protein</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005600">Fragile X Syndrome</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008279">Magnetic Resonance Imaging</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009207">Myoclonus</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014202">Tremor</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2010</Year><Month>1</Month><Day>12</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2010</Year><Month>1</Month><Day>12</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2010</Year><Month>8</Month><Day>11</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.22929</ArticleId><ArticleId IdType="pubmed">20063436</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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