Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients.
Identifieur interne : 000D30 ( Main/Exploration ); précédent : 000D29; suivant : 000D31Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients.
Auteurs : Vinko Palada ; Sandra Stiern ; Nicola Glöckle ; Pilar G Mez-Garre ; Fatima Carrillo ; Pablo Mir ; Krzysztof Szczaluba ; Michele Tinazzi ; Domenico Ajena ; Marta Romani ; Enza Maria Valente ; Ulrich Müller ; Peter Bauer ; Olaf Riess ; Thomas Ott ; Kathrin GrundmannSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Aged, 80 and over, Apoptosis Regulatory Proteins (genetics), Binding Sites (genetics), DNA-Binding Proteins (genetics), Dystonia Musculorum Deformans (genetics), Female, Humans, Male, Middle Aged, Molecular Chaperones (genetics), Mutation (genetics), Nuclear Proteins (genetics), Promoter Regions, Genetic (genetics), Young Adult.
- MESH :
- chemical , genetics : Apoptosis Regulatory Proteins, DNA-Binding Proteins, Molecular Chaperones, Nuclear Proteins.
- genetics : Binding Sites, Dystonia Musculorum Deformans, Mutation, Promoter Regions, Genetic.
- Adolescent, Adult, Aged, Aged, 80 and over, Female, Humans, Male, Middle Aged, Young Adult.
DOI: 10.1002/mds.24974
PubMed: 22508326
Affiliations:
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Le document en format XML
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<author><name sortKey="Palada, Vinko" sort="Palada, Vinko" uniqKey="Palada V" first="Vinko" last="Palada">Vinko Palada</name>
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<author><name sortKey="Glockle, Nicola" sort="Glockle, Nicola" uniqKey="Glockle N" first="Nicola" last="Glöckle">Nicola Glöckle</name>
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<author><name sortKey="G Mez Garre, Pilar" sort="G Mez Garre, Pilar" uniqKey="G Mez Garre P" first="Pilar" last="G Mez-Garre">Pilar G Mez-Garre</name>
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<author><name sortKey="Stiern, Sandra" sort="Stiern, Sandra" uniqKey="Stiern S" first="Sandra" last="Stiern">Sandra Stiern</name>
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<author><name sortKey="Glockle, Nicola" sort="Glockle, Nicola" uniqKey="Glockle N" first="Nicola" last="Glöckle">Nicola Glöckle</name>
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<author><name sortKey="G Mez Garre, Pilar" sort="G Mez Garre, Pilar" uniqKey="G Mez Garre P" first="Pilar" last="G Mez-Garre">Pilar G Mez-Garre</name>
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<author><name sortKey="Carrillo, Fatima" sort="Carrillo, Fatima" uniqKey="Carrillo F" first="Fatima" last="Carrillo">Fatima Carrillo</name>
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<author><name sortKey="Mir, Pablo" sort="Mir, Pablo" uniqKey="Mir P" first="Pablo" last="Mir">Pablo Mir</name>
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<author><name sortKey="Szczaluba, Krzysztof" sort="Szczaluba, Krzysztof" uniqKey="Szczaluba K" first="Krzysztof" last="Szczaluba">Krzysztof Szczaluba</name>
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<author><name sortKey="Tinazzi, Michele" sort="Tinazzi, Michele" uniqKey="Tinazzi M" first="Michele" last="Tinazzi">Michele Tinazzi</name>
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<author><name sortKey="Ajena, Domenico" sort="Ajena, Domenico" uniqKey="Ajena D" first="Domenico" last="Ajena">Domenico Ajena</name>
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<author><name sortKey="Romani, Marta" sort="Romani, Marta" uniqKey="Romani M" first="Marta" last="Romani">Marta Romani</name>
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<author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name>
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<author><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name>
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<author><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name>
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<author><name sortKey="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name>
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<author><name sortKey="Ott, Thomas" sort="Ott, Thomas" uniqKey="Ott T" first="Thomas" last="Ott">Thomas Ott</name>
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<author><name sortKey="Grundmann, Kathrin" sort="Grundmann, Kathrin" uniqKey="Grundmann K" first="Kathrin" last="Grundmann">Kathrin Grundmann</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="2012" type="published">2012</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Apoptosis Regulatory Proteins (genetics)</term>
<term>Binding Sites (genetics)</term>
<term>DNA-Binding Proteins (genetics)</term>
<term>Dystonia Musculorum Deformans (genetics)</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Molecular Chaperones (genetics)</term>
<term>Mutation (genetics)</term>
<term>Nuclear Proteins (genetics)</term>
<term>Promoter Regions, Genetic (genetics)</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Apoptosis Regulatory Proteins</term>
<term>DNA-Binding Proteins</term>
<term>Molecular Chaperones</term>
<term>Nuclear Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Binding Sites</term>
<term>Dystonia Musculorum Deformans</term>
<term>Mutation</term>
<term>Promoter Regions, Genetic</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Young Adult</term>
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<name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name>
<name sortKey="Carrillo, Fatima" sort="Carrillo, Fatima" uniqKey="Carrillo F" first="Fatima" last="Carrillo">Fatima Carrillo</name>
<name sortKey="G Mez Garre, Pilar" sort="G Mez Garre, Pilar" uniqKey="G Mez Garre P" first="Pilar" last="G Mez-Garre">Pilar G Mez-Garre</name>
<name sortKey="Glockle, Nicola" sort="Glockle, Nicola" uniqKey="Glockle N" first="Nicola" last="Glöckle">Nicola Glöckle</name>
<name sortKey="Grundmann, Kathrin" sort="Grundmann, Kathrin" uniqKey="Grundmann K" first="Kathrin" last="Grundmann">Kathrin Grundmann</name>
<name sortKey="Mir, Pablo" sort="Mir, Pablo" uniqKey="Mir P" first="Pablo" last="Mir">Pablo Mir</name>
<name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name>
<name sortKey="Ott, Thomas" sort="Ott, Thomas" uniqKey="Ott T" first="Thomas" last="Ott">Thomas Ott</name>
<name sortKey="Palada, Vinko" sort="Palada, Vinko" uniqKey="Palada V" first="Vinko" last="Palada">Vinko Palada</name>
<name sortKey="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name>
<name sortKey="Romani, Marta" sort="Romani, Marta" uniqKey="Romani M" first="Marta" last="Romani">Marta Romani</name>
<name sortKey="Stiern, Sandra" sort="Stiern, Sandra" uniqKey="Stiern S" first="Sandra" last="Stiern">Sandra Stiern</name>
<name sortKey="Szczaluba, Krzysztof" sort="Szczaluba, Krzysztof" uniqKey="Szczaluba K" first="Krzysztof" last="Szczaluba">Krzysztof Szczaluba</name>
<name sortKey="Tinazzi, Michele" sort="Tinazzi, Michele" uniqKey="Tinazzi M" first="Michele" last="Tinazzi">Michele Tinazzi</name>
<name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name>
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