Abnormal premotor-motor interaction in heterozygous Parkin- and Pink1 mutation carriers.
Identifieur interne : 000126 ( Main/Exploration ); précédent : 000125; suivant : 000127Abnormal premotor-motor interaction in heterozygous Parkin- and Pink1 mutation carriers.
Auteurs : Anne Weissbach [Allemagne] ; Tobias B Umer [Allemagne] ; Peter P. Pramstaller [Italie] ; Norbert Brüggemann [Allemagne] ; Vera Tadic [Allemagne] ; Robert Chen [Canada] ; Christine Klein [Allemagne] ; Alexander Münchau [Allemagne]Source :
- Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology [ 1872-8952 ] ; 2017.
Abstract
Mutations in the Parkin and PINK1 gene account for the majority of autosomal recessive early-onset Parkinson cases. There is increasing evidence that clinically asymptomatic subjects with single heterozygous mutations have a latent nigrostriatal dopaminergic deficit and could be taken as in vivo model of pre-symptomatic phase of Parkinsonism.
DOI: 10.1016/j.clinph.2016.10.007
PubMed: 27843055
Affiliations:
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Electronic address: alexander.muenchau@neuro.uni-luebeck.de.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Neurogenetics, University of Luebeck</wicri:regionArea><wicri:noRegion>University of Luebeck</wicri:noRegion><wicri:noRegion>University of Luebeck</wicri:noRegion><wicri:noRegion>University of Luebeck</wicri:noRegion></affiliation></author></analytic><series><title level="j">Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology</title><idno type="eISSN">1872-8952</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the Parkin and PINK1 gene account for the majority of autosomal recessive early-onset Parkinson cases. There is increasing evidence that clinically asymptomatic subjects with single heterozygous mutations have a latent nigrostriatal dopaminergic deficit and could be taken as in vivo model of pre-symptomatic phase of Parkinsonism.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Canada</li><li>Italie</li></country></list><tree><country name="Allemagne"><noRegion><name sortKey="Weissbach, Anne" sort="Weissbach, Anne" uniqKey="Weissbach A" first="Anne" last="Weissbach">Anne Weissbach</name></noRegion><name sortKey="B Umer, Tobias" sort="B Umer, Tobias" uniqKey="B Umer T" first="Tobias" last="B Umer">Tobias B Umer</name><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Munchau, Alexander" sort="Munchau, Alexander" uniqKey="Munchau A" first="Alexander" last="Münchau">Alexander Münchau</name><name sortKey="Tadic, Vera" sort="Tadic, Vera" uniqKey="Tadic V" first="Vera" last="Tadic">Vera Tadic</name></country><country name="Italie"><noRegion><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P" last="Pramstaller">Peter P. Pramstaller</name></noRegion></country><country name="Canada"><noRegion><name sortKey="Chen, Robert" sort="Chen, Robert" uniqKey="Chen R" first="Robert" last="Chen">Robert Chen</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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