G303V tau mutation presenting with progressive supranuclear palsy-like features.
Identifieur interne : 003478 ( Ncbi/Checkpoint ); précédent : 003477; suivant : 003479G303V tau mutation presenting with progressive supranuclear palsy-like features.
Auteurs : Ariane Choumert ; Alice Poisson ; Jérôme Honnorat ; Isabelle Le Ber ; Agnes Camuzat ; Emmanuel Broussolle ; Stéphane ThoboisSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Glycine, Valine, tau Proteins.
- genetics : Exons, Supranuclear Palsy, Progressive.
- Adult, DNA Mutational Analysis, Family Health, Humans, Middle Aged.
DOI: 10.1002/mds.24060
PubMed: 22109955
Affiliations:
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pubmed:22109955Le document en format XML
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<author><name sortKey="Choumert, Ariane" sort="Choumert, Ariane" uniqKey="Choumert A" first="Ariane" last="Choumert">Ariane Choumert</name>
</author>
<author><name sortKey="Poisson, Alice" sort="Poisson, Alice" uniqKey="Poisson A" first="Alice" last="Poisson">Alice Poisson</name>
</author>
<author><name sortKey="Honnorat, Jerome" sort="Honnorat, Jerome" uniqKey="Honnorat J" first="Jérôme" last="Honnorat">Jérôme Honnorat</name>
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<author><name sortKey="Le Ber, Isabelle" sort="Le Ber, Isabelle" uniqKey="Le Ber I" first="Isabelle" last="Le Ber">Isabelle Le Ber</name>
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<author><name sortKey="Camuzat, Agnes" sort="Camuzat, Agnes" uniqKey="Camuzat A" first="Agnes" last="Camuzat">Agnes Camuzat</name>
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<author><name sortKey="Broussolle, Emmanuel" sort="Broussolle, Emmanuel" uniqKey="Broussolle E" first="Emmanuel" last="Broussolle">Emmanuel Broussolle</name>
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<author><name sortKey="Thobois, Stephane" sort="Thobois, Stephane" uniqKey="Thobois S" first="Stéphane" last="Thobois">Stéphane Thobois</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">G303V tau mutation presenting with progressive supranuclear palsy-like features.</title>
<author><name sortKey="Choumert, Ariane" sort="Choumert, Ariane" uniqKey="Choumert A" first="Ariane" last="Choumert">Ariane Choumert</name>
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<author><name sortKey="Poisson, Alice" sort="Poisson, Alice" uniqKey="Poisson A" first="Alice" last="Poisson">Alice Poisson</name>
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<author><name sortKey="Honnorat, Jerome" sort="Honnorat, Jerome" uniqKey="Honnorat J" first="Jérôme" last="Honnorat">Jérôme Honnorat</name>
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<author><name sortKey="Le Ber, Isabelle" sort="Le Ber, Isabelle" uniqKey="Le Ber I" first="Isabelle" last="Le Ber">Isabelle Le Ber</name>
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<author><name sortKey="Camuzat, Agnes" sort="Camuzat, Agnes" uniqKey="Camuzat A" first="Agnes" last="Camuzat">Agnes Camuzat</name>
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<author><name sortKey="Broussolle, Emmanuel" sort="Broussolle, Emmanuel" uniqKey="Broussolle E" first="Emmanuel" last="Broussolle">Emmanuel Broussolle</name>
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<author><name sortKey="Thobois, Stephane" sort="Thobois, Stephane" uniqKey="Thobois S" first="Stéphane" last="Thobois">Stéphane Thobois</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>Adult</term>
<term>DNA Mutational Analysis</term>
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<term>Family Health</term>
<term>Glycine (genetics)</term>
<term>Humans</term>
<term>Middle Aged</term>
<term>Supranuclear Palsy, Progressive (genetics)</term>
<term>Valine (genetics)</term>
<term>tau Proteins (genetics)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glycine</term>
<term>Valine</term>
<term>tau Proteins</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term>
<term>Supranuclear Palsy, Progressive</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>DNA Mutational Analysis</term>
<term>Family Health</term>
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<tree><noCountry><name sortKey="Broussolle, Emmanuel" sort="Broussolle, Emmanuel" uniqKey="Broussolle E" first="Emmanuel" last="Broussolle">Emmanuel Broussolle</name>
<name sortKey="Camuzat, Agnes" sort="Camuzat, Agnes" uniqKey="Camuzat A" first="Agnes" last="Camuzat">Agnes Camuzat</name>
<name sortKey="Choumert, Ariane" sort="Choumert, Ariane" uniqKey="Choumert A" first="Ariane" last="Choumert">Ariane Choumert</name>
<name sortKey="Honnorat, Jerome" sort="Honnorat, Jerome" uniqKey="Honnorat J" first="Jérôme" last="Honnorat">Jérôme Honnorat</name>
<name sortKey="Le Ber, Isabelle" sort="Le Ber, Isabelle" uniqKey="Le Ber I" first="Isabelle" last="Le Ber">Isabelle Le Ber</name>
<name sortKey="Poisson, Alice" sort="Poisson, Alice" uniqKey="Poisson A" first="Alice" last="Poisson">Alice Poisson</name>
<name sortKey="Thobois, Stephane" sort="Thobois, Stephane" uniqKey="Thobois S" first="Stéphane" last="Thobois">Stéphane Thobois</name>
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