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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Le document en format XML
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Mills</name></author><author><name sortKey="Tuschl, Karin" sort="Tuschl, Karin" uniqKey="Tuschl K" first="Karin" last="Tuschl">Karin Tuschl</name></author><author><name sortKey="Steenbergen, Eric J" sort="Steenbergen, Eric J" uniqKey="Steenbergen E" first="Eric J" last="Steenbergen">Eric J. Steenbergen</name></author><author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name></author><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. 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Delnooz</name></author><author><name sortKey="Wevers, Ron A" sort="Wevers, Ron A" uniqKey="Wevers R" first="Ron A" last="Wevers">Ron A. Wevers</name></author><author><name sortKey="Quadri, Marialuisa" sort="Quadri, Marialuisa" uniqKey="Quadri M" first="Marialuisa" last="Quadri">Marialuisa Quadri</name></author><author><name sortKey="Clayton, Peter T" sort="Clayton, Peter T" uniqKey="Clayton P" first="Peter T" last="Clayton">Peter T. Clayton</name></author><author><name sortKey="Mills, Philippa B" sort="Mills, Philippa B" uniqKey="Mills P" first="Philippa B" last="Mills">Philippa B. Mills</name></author><author><name sortKey="Tuschl, Karin" sort="Tuschl, Karin" uniqKey="Tuschl K" first="Karin" last="Tuschl">Karin Tuschl</name></author><author><name sortKey="Steenbergen, Eric J" sort="Steenbergen, Eric J" uniqKey="Steenbergen E" first="Eric J" last="Steenbergen">Eric J. Steenbergen</name></author><author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name></author><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></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="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Brain (pathology)</term><term>Cation Transport Proteins (genetics)</term><term>Dystonic Disorders (genetics)</term><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></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cation Transport Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term><term>Mutation</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Manganese</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Dystonic Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Female</term><term>Humans</term><term>Middle Aged</term><term>Phenotype</term></keywords></textClass></profileDesc></teiHeader></TEI><affiliations><list></list><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. 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