X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome.
Identifieur interne : 000697 ( Main/Exploration ); précédent : 000696; suivant : 000698X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome.
Auteurs : Ana Westenberger [Allemagne] ; Raymond L. Rosales ; Sascha Heinitz ; Karen Freimann ; Lilian V. Lee ; Roland D. Jamora ; Arlene R. Ng ; Aloysius Domingo ; Katja Lohmann ; Uwe Walter ; Uta Gölnitz ; Arndt Rolfs ; Inga Nagel ; Gabriele Gillessen-Kaesbach ; Reiner Siebert ; Dirk Dressler ; Christine KleinSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- Chromosomes, Human, X, Dystonic Disorders, Female, Genetic Diseases, X-Linked, Genetic Testing, Histone Acetyltransferases (genetics), Humans, Middle Aged, TATA-Binding Protein Associated Factors (genetics), Transcription Factor TFIID (genetics), Turner Syndrome (complications), Turner Syndrome (genetics).
- MESH :
- chemical , genetics : Histone Acetyltransferases, TATA-Binding Protein Associated Factors, Transcription Factor TFIID.
- complications : Turner Syndrome.
- genetics : Turner Syndrome.
- Chromosomes, Human, X, Dystonic Disorders, Female, Genetic Diseases, X-Linked, Genetic Testing, Humans, Middle Aged.
Abstract
Recessive X-linked dystonia-parkinsonism almost exclusively affects men. We investigated the genetic mechanisms causing this disorder in a female patient.
DOI: 10.1002/mds.25369
PubMed: 23389859
Affiliations:
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Le document en format XML
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Rosales</name></author><author><name sortKey="Heinitz, Sascha" sort="Heinitz, Sascha" uniqKey="Heinitz S" first="Sascha" last="Heinitz">Sascha Heinitz</name></author><author><name sortKey="Freimann, Karen" sort="Freimann, Karen" uniqKey="Freimann K" first="Karen" last="Freimann">Karen Freimann</name></author><author><name sortKey="Lee, Lilian V" sort="Lee, Lilian V" uniqKey="Lee L" first="Lilian V" last="Lee">Lilian V. Lee</name></author><author><name sortKey="Jamora, Roland D" sort="Jamora, Roland D" uniqKey="Jamora R" first="Roland D" last="Jamora">Roland D. Jamora</name></author><author><name sortKey="Ng, Arlene R" sort="Ng, Arlene R" uniqKey="Ng A" first="Arlene R" last="Ng">Arlene R. 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Rosales</name></author><author><name sortKey="Heinitz, Sascha" sort="Heinitz, Sascha" uniqKey="Heinitz S" first="Sascha" last="Heinitz">Sascha Heinitz</name></author><author><name sortKey="Freimann, Karen" sort="Freimann, Karen" uniqKey="Freimann K" first="Karen" last="Freimann">Karen Freimann</name></author><author><name sortKey="Lee, Lilian V" sort="Lee, Lilian V" uniqKey="Lee L" first="Lilian V" last="Lee">Lilian V. Lee</name></author><author><name sortKey="Jamora, Roland D" sort="Jamora, Roland D" uniqKey="Jamora R" first="Roland D" last="Jamora">Roland D. Jamora</name></author><author><name sortKey="Ng, Arlene R" sort="Ng, Arlene R" uniqKey="Ng A" first="Arlene R" last="Ng">Arlene R. Ng</name></author><author><name sortKey="Domingo, Aloysius" sort="Domingo, Aloysius" uniqKey="Domingo A" first="Aloysius" last="Domingo">Aloysius Domingo</name></author><author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name></author><author><name sortKey="Walter, Uwe" sort="Walter, Uwe" uniqKey="Walter U" first="Uwe" last="Walter">Uwe Walter</name></author><author><name sortKey="Golnitz, Uta" sort="Golnitz, Uta" uniqKey="Golnitz U" first="Uta" last="Gölnitz">Uta Gölnitz</name></author><author><name sortKey="Rolfs, Arndt" sort="Rolfs, Arndt" uniqKey="Rolfs A" first="Arndt" last="Rolfs">Arndt Rolfs</name></author><author><name sortKey="Nagel, Inga" sort="Nagel, Inga" uniqKey="Nagel I" first="Inga" last="Nagel">Inga Nagel</name></author><author><name sortKey="Gillessen Kaesbach, Gabriele" sort="Gillessen Kaesbach, Gabriele" uniqKey="Gillessen Kaesbach G" first="Gabriele" last="Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</name></author><author><name sortKey="Siebert, Reiner" sort="Siebert, Reiner" uniqKey="Siebert R" first="Reiner" last="Siebert">Reiner Siebert</name></author><author><name sortKey="Dressler, Dirk" sort="Dressler, Dirk" uniqKey="Dressler D" first="Dirk" last="Dressler">Dirk Dressler</name></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</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>Chromosomes, Human, X</term><term>Dystonic Disorders</term><term>Female</term><term>Genetic Diseases, X-Linked</term><term>Genetic Testing</term><term>Histone Acetyltransferases (genetics)</term><term>Humans</term><term>Middle Aged</term><term>TATA-Binding Protein Associated Factors (genetics)</term><term>Transcription Factor TFIID (genetics)</term><term>Turner Syndrome (complications)</term><term>Turner Syndrome (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Histone Acetyltransferases</term><term>TATA-Binding Protein Associated Factors</term><term>Transcription Factor TFIID</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Turner Syndrome</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Turner Syndrome</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Chromosomes, Human, X</term><term>Dystonic Disorders</term><term>Female</term><term>Genetic Diseases, X-Linked</term><term>Genetic Testing</term><term>Humans</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Recessive X-linked dystonia-parkinsonism almost exclusively affects men. We investigated the genetic mechanisms causing this disorder in a female patient.</div></front></TEI><affiliations><list><country><li>Allemagne</li></country></list><tree><noCountry><name sortKey="Domingo, Aloysius" sort="Domingo, Aloysius" uniqKey="Domingo A" first="Aloysius" last="Domingo">Aloysius Domingo</name><name sortKey="Dressler, Dirk" sort="Dressler, Dirk" uniqKey="Dressler D" first="Dirk" last="Dressler">Dirk Dressler</name><name sortKey="Freimann, Karen" sort="Freimann, Karen" uniqKey="Freimann K" first="Karen" last="Freimann">Karen Freimann</name><name sortKey="Gillessen Kaesbach, Gabriele" sort="Gillessen Kaesbach, Gabriele" uniqKey="Gillessen Kaesbach G" first="Gabriele" last="Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</name><name sortKey="Golnitz, Uta" sort="Golnitz, Uta" uniqKey="Golnitz U" first="Uta" last="Gölnitz">Uta Gölnitz</name><name sortKey="Heinitz, Sascha" sort="Heinitz, Sascha" uniqKey="Heinitz S" first="Sascha" last="Heinitz">Sascha Heinitz</name><name sortKey="Jamora, Roland D" sort="Jamora, Roland D" uniqKey="Jamora R" first="Roland D" last="Jamora">Roland D. Jamora</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Lee, Lilian V" sort="Lee, Lilian V" uniqKey="Lee L" first="Lilian V" last="Lee">Lilian V. Lee</name><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name><name sortKey="Nagel, Inga" sort="Nagel, Inga" uniqKey="Nagel I" first="Inga" last="Nagel">Inga Nagel</name><name sortKey="Ng, Arlene R" sort="Ng, Arlene R" uniqKey="Ng A" first="Arlene R" last="Ng">Arlene R. Ng</name><name sortKey="Rolfs, Arndt" sort="Rolfs, Arndt" uniqKey="Rolfs A" first="Arndt" last="Rolfs">Arndt Rolfs</name><name sortKey="Rosales, Raymond L" sort="Rosales, Raymond L" uniqKey="Rosales R" first="Raymond L" last="Rosales">Raymond L. Rosales</name><name sortKey="Siebert, Reiner" sort="Siebert, Reiner" uniqKey="Siebert R" first="Reiner" last="Siebert">Reiner Siebert</name><name sortKey="Walter, Uwe" sort="Walter, Uwe" uniqKey="Walter U" first="Uwe" last="Walter">Uwe Walter</name></noCountry><country name="Allemagne"><noRegion><name sortKey="Westenberger, Ana" sort="Westenberger, Ana" uniqKey="Westenberger A" first="Ana" last="Westenberger">Ana Westenberger</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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