A new F-box protein 7 gene mutation causing typical Parkinson's disease.
Identifieur interne : 000725 ( Main/Exploration ); précédent : 000724; suivant : 000726A new F-box protein 7 gene mutation causing typical Parkinson's disease.
Auteurs : Ebba Lohmann [Turquie] ; Anne-Sophie Coquel [France] ; Aurélie Honoré [France] ; Hakan Gurvit [Turquie] ; Hasmet Hanagasi [Turquie] ; Murat Emre [Turquie] ; Anne L. Leutenegger [France] ; Valérie Drouet [France] ; Mourad Sahbatou [France] ; Gamze Guven [Turquie] ; Nihan Erginel-Unaltuna [Turquie] ; Jean-Francois Deleuze [France] ; Suzanne Lesage [France] ; Alexis Brice [France]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2015.
Descripteurs français
- Wicri :
- geographic : Turquie.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : F-Box Proteins.
- geographic : Turkey.
- genetics : Parkinson Disease.
- physiopathology : Parkinson Disease.
- Aged, 80 and over, Consanguinity, Female, Humans, Male, Middle Aged, Mutation, Pedigree.
Abstract
Recessive mutations in the F-box protein 7 gene (FBXO7; PARK15) have been identified as a cause of the parkinsonian-pyramidal syndrome. Here, we report clinical and genetic findings in a Turkish family with novel FBXO7 mutations.
DOI: 10.1002/mds.26266
PubMed: 26010069
Affiliations:
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Le document en format XML
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<term>Middle Aged</term>
<term>Mutation</term>
<term>Pedigree</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Turquie</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Recessive mutations in the F-box protein 7 gene (FBXO7; PARK15) have been identified as a cause of the parkinsonian-pyramidal syndrome. Here, we report clinical and genetic findings in a Turkish family with novel FBXO7 mutations.</div>
</front>
</TEI>
<affiliations><list><country><li>France</li>
<li>Turquie</li>
</country>
<region><li>Île-de-France</li>
</region>
<settlement><li>Paris</li>
<li>Évry (Essonne)</li>
</settlement>
</list>
<tree><country name="Turquie"><noRegion><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name>
</noRegion>
<name sortKey="Emre, Murat" sort="Emre, Murat" uniqKey="Emre M" first="Murat" last="Emre">Murat Emre</name>
<name sortKey="Erginel Unaltuna, Nihan" sort="Erginel Unaltuna, Nihan" uniqKey="Erginel Unaltuna N" first="Nihan" last="Erginel-Unaltuna">Nihan Erginel-Unaltuna</name>
<name sortKey="Gurvit, Hakan" sort="Gurvit, Hakan" uniqKey="Gurvit H" first="Hakan" last="Gurvit">Hakan Gurvit</name>
<name sortKey="Guven, Gamze" sort="Guven, Gamze" uniqKey="Guven G" first="Gamze" last="Guven">Gamze Guven</name>
<name sortKey="Hanagasi, Hasmet" sort="Hanagasi, Hasmet" uniqKey="Hanagasi H" first="Hasmet" last="Hanagasi">Hasmet Hanagasi</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Coquel, Anne Sophie" sort="Coquel, Anne Sophie" uniqKey="Coquel A" first="Anne-Sophie" last="Coquel">Anne-Sophie Coquel</name>
</region>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Deleuze, Jean Francois" sort="Deleuze, Jean Francois" uniqKey="Deleuze J" first="Jean-Francois" last="Deleuze">Jean-Francois Deleuze</name>
<name sortKey="Drouet, Valerie" sort="Drouet, Valerie" uniqKey="Drouet V" first="Valérie" last="Drouet">Valérie Drouet</name>
<name sortKey="Honore, Aurelie" sort="Honore, Aurelie" uniqKey="Honore A" first="Aurélie" last="Honoré">Aurélie Honoré</name>
<name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
<name sortKey="Leutenegger, Anne L" sort="Leutenegger, Anne L" uniqKey="Leutenegger A" first="Anne L" last="Leutenegger">Anne L. Leutenegger</name>
<name sortKey="Sahbatou, Mourad" sort="Sahbatou, Mourad" uniqKey="Sahbatou M" first="Mourad" last="Sahbatou">Mourad Sahbatou</name>
</country>
</tree>
</affiliations>
</record>
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