Phenotypic variability in a dystonia family with mutations in the manganese transporter gene.
Identifieur interne : 000842 ( Main/Exploration ); précédent : 000841; suivant : 000843Phenotypic variability in a dystonia family with mutations in the manganese transporter gene.
Auteurs : Cathérine C S. Delnooz ; Ron A. Wevers ; Marialuisa Quadri ; Peter T. Clayton ; Philippa B. Mills ; Karin Tuschl ; Eric J. Steenbergen ; Vincenzo Bonifati ; Bart P C. Van De WarrenburgSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Cation Transport Proteins.
- genetics : Dystonic Disorders, Mutation.
- chemical , metabolism : Manganese.
- pathology : Brain, Dystonic Disorders.
- Female, Humans, Middle Aged, Phenotype.
DOI: 10.1002/mds.25390
PubMed: 23592301
Affiliations:
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- to stream PubMed, to step Corpus: 000938
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- to stream Ncbi, to step Curation: 003B43
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Le document en format XML
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<author><name sortKey="Wevers, Ron A" sort="Wevers, Ron A" uniqKey="Wevers R" first="Ron A" last="Wevers">Ron A. Wevers</name>
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<author><name sortKey="Quadri, Marialuisa" sort="Quadri, Marialuisa" uniqKey="Quadri M" first="Marialuisa" last="Quadri">Marialuisa Quadri</name>
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<author><name sortKey="Tuschl, Karin" sort="Tuschl, Karin" uniqKey="Tuschl K" first="Karin" last="Tuschl">Karin Tuschl</name>
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<author><name sortKey="Steenbergen, Eric J" sort="Steenbergen, Eric J" uniqKey="Steenbergen E" first="Eric J" last="Steenbergen">Eric J. Steenbergen</name>
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<author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name>
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<author><name sortKey="Van De Warrenburg, Bart P C" sort="Van De Warrenburg, Bart P C" uniqKey="Van De Warrenburg B" first="Bart P C" last="Van De Warrenburg">Bart P C. Van De Warrenburg</name>
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<author><name sortKey="Tuschl, Karin" sort="Tuschl, Karin" uniqKey="Tuschl K" first="Karin" last="Tuschl">Karin Tuschl</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Dystonic Disorders (pathology)</term>
<term>Female</term>
<term>Humans</term>
<term>Manganese (metabolism)</term>
<term>Middle Aged</term>
<term>Mutation (genetics)</term>
<term>Phenotype</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cation Transport Proteins</term>
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<term>Dystonic Disorders</term>
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<tree><noCountry><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name>
<name sortKey="Clayton, Peter T" sort="Clayton, Peter T" uniqKey="Clayton P" first="Peter T" last="Clayton">Peter T. Clayton</name>
<name sortKey="Delnooz, Catherine C S" sort="Delnooz, Catherine C S" uniqKey="Delnooz C" first="Cathérine C S" last="Delnooz">Cathérine C S. Delnooz</name>
<name sortKey="Mills, Philippa B" sort="Mills, Philippa B" uniqKey="Mills P" first="Philippa B" last="Mills">Philippa B. Mills</name>
<name sortKey="Quadri, Marialuisa" sort="Quadri, Marialuisa" uniqKey="Quadri M" first="Marialuisa" last="Quadri">Marialuisa Quadri</name>
<name sortKey="Steenbergen, Eric J" sort="Steenbergen, Eric J" uniqKey="Steenbergen E" first="Eric J" last="Steenbergen">Eric J. Steenbergen</name>
<name sortKey="Tuschl, Karin" sort="Tuschl, Karin" uniqKey="Tuschl K" first="Karin" last="Tuschl">Karin Tuschl</name>
<name sortKey="Van De Warrenburg, Bart P C" sort="Van De Warrenburg, Bart P C" uniqKey="Van De Warrenburg B" first="Bart P C" last="Van De Warrenburg">Bart P C. Van De Warrenburg</name>
<name sortKey="Wevers, Ron A" sort="Wevers, Ron A" uniqKey="Wevers R" first="Ron A" last="Wevers">Ron A. Wevers</name>
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