Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.
Identifieur interne : 000494 ( Main/Exploration ); précédent : 000493; suivant : 000495Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.
Auteurs : Geetanjali S. Rathore [États-Unis] ; Christian P. Schaaf ; Amber J. StoccoSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.
English descriptors
- KwdEn :
- 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
Affiliations:
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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>
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</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>
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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>
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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>
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<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>
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<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>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Carrier Proteins</term>
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<term>Intellectual Disability</term>
<term>Nerve Degeneration</term>
<term>Neurodegenerative Diseases</term>
<term>Quadriplegia</term>
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