MovDisordV3, Ncbi, Merge, bibRecord, 003F39

Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.

Identifieur interne : 003F39 ( Ncbi/Merge ); précédent : 003F38; suivant : 003F40

Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.

Auteurs : Geetanjali S. Rathore [États-Unis] ; Christian P. Schaaf ; Amber J. Stocco

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.

RBID : pubmed:24610255

English descriptors

KwdEn :
- Adolescent, Carrier Proteins (genetics), Dystonia (genetics), Female, Humans, Intellectual Disability (genetics), Mutation, Nerve Degeneration (genetics), Neurodegenerative Diseases (genetics), Quadriplegia (genetics).
MESH :
- chemical , genetics : Carrier Proteins.
- genetics : Dystonia, Intellectual Disability, Nerve Degeneration, Neurodegenerative Diseases, Quadriplegia.
- Adolescent, Female, Humans, Mutation.

DOI: 10.1002/mds.25868
PubMed: 24610255

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pubmed:24610255

Le document en format XML

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<author><name sortKey="Rathore, Geetanjali S" sort="Rathore, Geetanjali S" uniqKey="Rathore G" first="Geetanjali S" last="Rathore">Geetanjali S. Rathore</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Neurology and Developmental Neuroscience, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology and Developmental Neuroscience, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schaaf, Christian P" sort="Schaaf, Christian P" uniqKey="Schaaf C" first="Christian P" last="Schaaf">Christian P. Schaaf</name>
</author>
<author><name sortKey="Stocco, Amber J" sort="Stocco, Amber J" uniqKey="Stocco A" first="Amber J" last="Stocco">Amber J. Stocco</name>
</author>
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<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2014">2014</date>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.</title>
<author><name sortKey="Rathore, Geetanjali S" sort="Rathore, Geetanjali S" uniqKey="Rathore G" first="Geetanjali S" last="Rathore">Geetanjali S. Rathore</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Neurology and Developmental Neuroscience, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology and Developmental Neuroscience, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas</wicri:regionArea>
<placeName><region type="state">Texas</region>
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<author><name sortKey="Schaaf, Christian P" sort="Schaaf, Christian P" uniqKey="Schaaf C" first="Christian P" last="Schaaf">Christian P. Schaaf</name>
</author>
<author><name sortKey="Stocco, Amber J" sort="Stocco, Amber J" uniqKey="Stocco A" first="Amber J" last="Stocco">Amber J. Stocco</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2014" type="published">2014</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Carrier Proteins (genetics)</term>
<term>Dystonia (genetics)</term>
<term>Female</term>
<term>Humans</term>
<term>Intellectual Disability (genetics)</term>
<term>Mutation</term>
<term>Nerve Degeneration (genetics)</term>
<term>Neurodegenerative Diseases (genetics)</term>
<term>Quadriplegia (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Carrier Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term>
<term>Intellectual Disability</term>
<term>Nerve Degeneration</term>
<term>Neurodegenerative Diseases</term>
<term>Quadriplegia</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Female</term>
<term>Humans</term>
<term>Mutation</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">24610255</PMID>
<DateCreated><Year>2014</Year>
<Month>04</Month>
<Day>04</Day>
</DateCreated>
<DateCompleted><Year>2014</Year>
<Month>12</Month>
<Day>03</Day>
</DateCompleted>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>29</Volume>
<Issue>4</Issue>
<PubDate><Year>2014</Year>
<Month>Apr</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.</ArticleTitle>
<Pagination><MedlinePgn>574-5</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25868</ELocationID>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Rathore</LastName>
<ForeName>Geetanjali S</ForeName>
<Initials>GS</Initials>
<AffiliationInfo><Affiliation>Department of Neurology and Developmental Neuroscience, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Schaaf</LastName>
<ForeName>Christian P</ForeName>
<Initials>CP</Initials>
</Author>
<Author ValidYN="Y"><LastName>Stocco</LastName>
<ForeName>Amber J</ForeName>
<Initials>AJ</Initials>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType>
<PublicationType UI="D016422">Letter</PublicationType>
<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
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<ArticleDate DateType="Electronic"><Year>2014</Year>
<Month>03</Month>
<Day>07</Day>
</ArticleDate>
</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="D002352">Carrier Proteins</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C578284">WDR45 protein, human</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002352">Carrier Proteins</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D004421">Dystonia</DescriptorName>
<QualifierName MajorTopicYN="Y" 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" UI="D008607">Intellectual Disability</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009410">Nerve Degeneration</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D019636">Neurodegenerative Diseases</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D011782">Quadriplegia</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2013</Year>
<Month>9</Month>
<Day>22</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="revised"><Year>2014</Year>
<Month>2</Month>
<Day>9</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="accepted"><Year>2014</Year>
<Month>2</Month>
<Day>19</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="aheadofprint"><Year>2014</Year>
<Month>3</Month>
<Day>7</Day>
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<PubMedPubDate PubStatus="entrez"><Year>2014</Year>
<Month>3</Month>
<Day>11</Day>
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<Month>3</Month>
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<PubMedPubDate PubStatus="medline"><Year>2014</Year>
<Month>12</Month>
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<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="doi">10.1002/mds.25868</ArticleId>
<ArticleId IdType="pubmed">24610255</ArticleId>
</ArticleIdList>
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<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Texas</li>
</region>
</list>
<tree><noCountry><name sortKey="Schaaf, Christian P" sort="Schaaf, Christian P" uniqKey="Schaaf C" first="Christian P" last="Schaaf">Christian P. Schaaf</name>
<name sortKey="Stocco, Amber J" sort="Stocco, Amber J" uniqKey="Stocco A" first="Amber J" last="Stocco">Amber J. Stocco</name>
</noCountry>
<country name="États-Unis"><region name="Texas"><name sortKey="Rathore, Geetanjali S" sort="Rathore, Geetanjali S" uniqKey="Rathore G" first="Geetanjali S" last="Rathore">Geetanjali S. Rathore</name>
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</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.

Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.

Source :

English descriptors

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki