Expanding the phenotype of fragile X-associated tremor/ataxia syndrome: a new female case.
Identifieur interne : 002821 ( PubMed/Checkpoint ); précédent : 002820; suivant : 002822Expanding the phenotype of fragile X-associated tremor/ataxia syndrome: a new female case.
Auteurs : Judit Horvath ; Pierre R. Burkhard ; Michael Morris ; Armand Bottani ; Isabelle Moix ; Jacqueline DelavelleSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- Aged, Ataxia (etiology), Ataxia (genetics), Ataxia (pathology), Female, Fragile X Mental Retardation Protein (genetics), Fragile X Syndrome (complications), Fragile X Syndrome (genetics), Humans, Magnetic Resonance Imaging, Mutation (genetics), Phenotype, Tremor (etiology), Tremor (genetics), Tremor (pathology).
- MESH :
- chemical , genetics : Fragile X Mental Retardation Protein.
- complications : Fragile X Syndrome.
- etiology : Ataxia, Tremor.
- genetics : Ataxia, Fragile X Syndrome, Mutation, Tremor.
- pathology : Ataxia, Tremor.
- Aged, Female, Humans, Magnetic Resonance Imaging, Phenotype.
DOI: 10.1002/mds.21571
PubMed: 17516494
Affiliations:
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pubmed:17516494Le document en format XML
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Burkhard</name></author><author><name sortKey="Morris, Michael" sort="Morris, Michael" uniqKey="Morris M" first="Michael" last="Morris">Michael Morris</name></author><author><name sortKey="Bottani, Armand" sort="Bottani, Armand" uniqKey="Bottani A" first="Armand" last="Bottani">Armand Bottani</name></author><author><name sortKey="Moix, Isabelle" sort="Moix, Isabelle" uniqKey="Moix I" first="Isabelle" last="Moix">Isabelle Moix</name></author><author><name sortKey="Delavelle, Jacqueline" sort="Delavelle, Jacqueline" uniqKey="Delavelle J" first="Jacqueline" last="Delavelle">Jacqueline Delavelle</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21571</idno><idno type="RBID">pubmed:17516494</idno><idno type="pmid">17516494</idno><idno type="wicri:Area/PubMed/Corpus">002696</idno><idno type="wicri:Area/PubMed/Curation">002696</idno><idno type="wicri:Area/PubMed/Checkpoint">002821</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Expanding the phenotype of fragile X-associated tremor/ataxia syndrome: a new female case.</title><author><name sortKey="Horvath, Judit" sort="Horvath, Judit" uniqKey="Horvath J" first="Judit" last="Horvath">Judit Horvath</name></author><author><name sortKey="Burkhard, Pierre R" sort="Burkhard, Pierre R" uniqKey="Burkhard P" first="Pierre R" last="Burkhard">Pierre R. 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Disord.</ISOAbbreviation></Journal><ArticleTitle>Expanding the phenotype of fragile X-associated tremor/ataxia syndrome: a new female case.</ArticleTitle><Pagination><MedlinePgn>1677-8</MedlinePgn></Pagination><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Horvath</LastName><ForeName>Judit</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Burkhard</LastName><ForeName>Pierre R</ForeName><Initials>PR</Initials></Author><Author ValidYN="Y"><LastName>Morris</LastName><ForeName>Michael</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Bottani</LastName><ForeName>Armand</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Moix</LastName><ForeName>Isabelle</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Delavelle</LastName><ForeName>Jacqueline</ForeName><Initials>J</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="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001259">Ataxia</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000209">etiology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D051860">Fragile X Mental Retardation Protein</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005600">Fragile X Syndrome</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="N" 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="D009154">Mutation</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D010641">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014202">Tremor</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000209">etiology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year><Month>5</Month><Day>23</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>12</Month><Day>6</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2007</Year><Month>5</Month><Day>23</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.21571</ArticleId><ArticleId IdType="pubmed">17516494</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list></list><tree><noCountry><name sortKey="Bottani, Armand" sort="Bottani, Armand" uniqKey="Bottani A" first="Armand" last="Bottani">Armand Bottani</name><name sortKey="Burkhard, Pierre R" sort="Burkhard, Pierre R" uniqKey="Burkhard P" first="Pierre R" last="Burkhard">Pierre R. Burkhard</name><name sortKey="Delavelle, Jacqueline" sort="Delavelle, Jacqueline" uniqKey="Delavelle J" first="Jacqueline" last="Delavelle">Jacqueline Delavelle</name><name sortKey="Horvath, Judit" sort="Horvath, Judit" uniqKey="Horvath J" first="Judit" last="Horvath">Judit Horvath</name><name sortKey="Moix, Isabelle" sort="Moix, Isabelle" uniqKey="Moix I" first="Isabelle" last="Moix">Isabelle Moix</name><name sortKey="Morris, Michael" sort="Morris, Michael" uniqKey="Morris M" first="Michael" last="Morris">Michael Morris</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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