Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigrees.
Identifieur interne : 000B11 ( Main/Exploration ); précédent : 000B10; suivant : 000B12Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigrees.
Auteurs : Antonio E. Elia [Italie] ; Simona Petrucci ; Alfonso Fasano ; Marco Guidi ; Stefano Valbonesi ; Laura Bernardini ; Federica Consoli ; Alessandro Ferraris ; Alberto Albanese ; Enza Maria ValenteSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : alpha-Synuclein.
- genetics : Gene Duplication, Parkinsonian Disorders.
- Adult, Aged, Female, Genetic Association Studies, Humans, Male, Middle Aged, Pedigree.
Abstract
Multiplications of the SNCA gene that encodes alpha-synuclein are a rare cause of autosomal dominant Parkinson's disease (PD).
DOI: 10.1002/mds.25518
PubMed: 23744550
Affiliations:
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Le document en format XML
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Elia</name><affiliation wicri:level="1"><nlm:affiliation>Neurologia I, Istituto Neurologico Carlo Besta, Milano, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Neurologia I, Istituto Neurologico Carlo Besta, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation></author><author><name sortKey="Petrucci, Simona" sort="Petrucci, Simona" uniqKey="Petrucci S" first="Simona" last="Petrucci">Simona Petrucci</name></author><author><name sortKey="Fasano, Alfonso" sort="Fasano, Alfonso" uniqKey="Fasano A" first="Alfonso" last="Fasano">Alfonso Fasano</name></author><author><name sortKey="Guidi, Marco" sort="Guidi, Marco" uniqKey="Guidi M" first="Marco" last="Guidi">Marco Guidi</name></author><author><name sortKey="Valbonesi, Stefano" sort="Valbonesi, Stefano" uniqKey="Valbonesi S" first="Stefano" last="Valbonesi">Stefano Valbonesi</name></author><author><name sortKey="Bernardini, Laura" sort="Bernardini, Laura" uniqKey="Bernardini L" first="Laura" last="Bernardini">Laura Bernardini</name></author><author><name sortKey="Consoli, Federica" sort="Consoli, Federica" uniqKey="Consoli F" first="Federica" last="Consoli">Federica Consoli</name></author><author><name sortKey="Ferraris, Alessandro" sort="Ferraris, Alessandro" uniqKey="Ferraris A" first="Alessandro" last="Ferraris">Alessandro Ferraris</name></author><author><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2013">2013</date><idno type="doi">10.1002/mds.25518</idno><idno type="RBID">pubmed:23744550</idno><idno type="pmid">23744550</idno><idno type="wicri:Area/PubMed/Corpus">000883</idno><idno type="wicri:Area/PubMed/Curation">000883</idno><idno type="wicri:Area/PubMed/Checkpoint">000B25</idno><idno type="wicri:Area/Ncbi/Merge">003B99</idno><idno type="wicri:Area/Ncbi/Curation">003B99</idno><idno type="wicri:Area/Ncbi/Checkpoint">003B99</idno><idno type="wicri:Area/Main/Merge">000B11</idno><idno type="wicri:Area/Main/Curation">000B11</idno><idno type="wicri:Area/Main/Exploration">000B11</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigrees.</title><author><name sortKey="Elia, Antonio E" sort="Elia, Antonio E" uniqKey="Elia A" first="Antonio E" last="Elia">Antonio E. Elia</name><affiliation wicri:level="1"><nlm:affiliation>Neurologia I, Istituto Neurologico Carlo Besta, Milano, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Neurologia I, Istituto Neurologico Carlo Besta, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation></author><author><name sortKey="Petrucci, Simona" sort="Petrucci, Simona" uniqKey="Petrucci S" first="Simona" last="Petrucci">Simona Petrucci</name></author><author><name sortKey="Fasano, Alfonso" sort="Fasano, Alfonso" uniqKey="Fasano A" first="Alfonso" last="Fasano">Alfonso Fasano</name></author><author><name sortKey="Guidi, Marco" sort="Guidi, Marco" uniqKey="Guidi M" first="Marco" last="Guidi">Marco Guidi</name></author><author><name sortKey="Valbonesi, Stefano" sort="Valbonesi, Stefano" uniqKey="Valbonesi S" first="Stefano" last="Valbonesi">Stefano Valbonesi</name></author><author><name sortKey="Bernardini, Laura" sort="Bernardini, Laura" uniqKey="Bernardini L" first="Laura" last="Bernardini">Laura Bernardini</name></author><author><name sortKey="Consoli, Federica" sort="Consoli, Federica" uniqKey="Consoli F" first="Federica" last="Consoli">Federica Consoli</name></author><author><name sortKey="Ferraris, Alessandro" sort="Ferraris, Alessandro" uniqKey="Ferraris A" first="Alessandro" last="Ferraris">Alessandro Ferraris</name></author><author><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Female</term><term>Gene Duplication (genetics)</term><term>Genetic Association Studies</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Parkinsonian Disorders (genetics)</term><term>Pedigree</term><term>alpha-Synuclein (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Gene Duplication</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Female</term><term>Genetic Association Studies</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Multiplications of the SNCA gene that encodes alpha-synuclein are a rare cause of autosomal dominant Parkinson's disease (PD).</div></front></TEI><affiliations><list><country><li>Italie</li></country></list><tree><noCountry><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name><name sortKey="Bernardini, Laura" sort="Bernardini, Laura" uniqKey="Bernardini L" first="Laura" last="Bernardini">Laura Bernardini</name><name sortKey="Consoli, Federica" sort="Consoli, Federica" uniqKey="Consoli F" first="Federica" last="Consoli">Federica Consoli</name><name sortKey="Fasano, Alfonso" sort="Fasano, Alfonso" uniqKey="Fasano A" first="Alfonso" last="Fasano">Alfonso Fasano</name><name sortKey="Ferraris, Alessandro" sort="Ferraris, Alessandro" uniqKey="Ferraris A" first="Alessandro" last="Ferraris">Alessandro Ferraris</name><name sortKey="Guidi, Marco" sort="Guidi, Marco" uniqKey="Guidi M" first="Marco" last="Guidi">Marco Guidi</name><name sortKey="Petrucci, Simona" sort="Petrucci, Simona" uniqKey="Petrucci S" first="Simona" last="Petrucci">Simona Petrucci</name><name sortKey="Valbonesi, Stefano" sort="Valbonesi, Stefano" uniqKey="Valbonesi S" first="Stefano" last="Valbonesi">Stefano Valbonesi</name><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name></noCountry><country name="Italie"><noRegion><name sortKey="Elia, Antonio E" sort="Elia, Antonio E" uniqKey="Elia A" first="Antonio E" last="Elia">Antonio E. Elia</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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