Dystonia in mitochondrial spinocerebellar ataxia and epilepsy syndrome associated with novel recessive POLG mutations.
Identifieur interne : 000E03 ( Main/Exploration ); précédent : 000E02; suivant : 000E04Dystonia in mitochondrial spinocerebellar ataxia and epilepsy syndrome associated with novel recessive POLG mutations.
Auteurs : Claire Hinnell ; Salman Haider ; Shane Delamont ; Chris Clough ; Nedim Hadzic ; Michael SamuelSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- Brain (pathology), DNA-Directed DNA Polymerase (genetics), Dystonia (complications), Dystonia (genetics), Dystonia (pathology), Epilepsy (complications), Epilepsy (genetics), Epilepsy (pathology), Female, Humans, Longitudinal Studies, Magnetic Resonance Imaging, Mitochondria (pathology), Mutation (genetics), Spinocerebellar Ataxias (complications), Spinocerebellar Ataxias (genetics), Spinocerebellar Ataxias (pathology), Young Adult.
- MESH :
- chemical , genetics : DNA-Directed DNA Polymerase.
- complications : Dystonia, Epilepsy, Spinocerebellar Ataxias.
- genetics : Dystonia, Epilepsy, Mutation, Spinocerebellar Ataxias.
- pathology : Brain, Dystonia, Epilepsy, Mitochondria, Spinocerebellar Ataxias.
- Female, Humans, Longitudinal Studies, Magnetic Resonance Imaging, Young Adult.
DOI: 10.1002/mds.23960
PubMed: 21956653
Affiliations:
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Le document en format XML
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xml:lang="en"><term>Dystonia</term><term>Epilepsy</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term><term>Epilepsy</term><term>Mutation</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Dystonia</term><term>Epilepsy</term><term>Mitochondria</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Female</term><term>Humans</term><term>Longitudinal Studies</term><term>Magnetic Resonance Imaging</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader></TEI><affiliations><list></list><tree><noCountry><name sortKey="Clough, Chris" sort="Clough, Chris" uniqKey="Clough C" first="Chris" last="Clough">Chris Clough</name><name sortKey="Delamont, Shane" sort="Delamont, Shane" uniqKey="Delamont S" first="Shane" last="Delamont">Shane Delamont</name><name sortKey="Hadzic, Nedim" sort="Hadzic, Nedim" uniqKey="Hadzic N" first="Nedim" last="Hadzic">Nedim Hadzic</name><name sortKey="Haider, Salman" sort="Haider, Salman" uniqKey="Haider S" first="Salman" last="Haider">Salman Haider</name><name sortKey="Hinnell, Claire" sort="Hinnell, Claire" uniqKey="Hinnell C" first="Claire" last="Hinnell">Claire Hinnell</name><name sortKey="Samuel, Michael" sort="Samuel, Michael" uniqKey="Samuel M" first="Michael" last="Samuel">Michael Samuel</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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