Alpha‐synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease
Identifieur interne : 000280 ( Istex/Curation ); précédent : 000279; suivant : 000281Alpha‐synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease
Auteurs : Silke Appel-Cresswell [Canada] ; Carles Vilarino-Guell [Canada] ; Mary Encarnacion [Canada] ; Holly Sherman [Canada] ; Irene Yu [Canada] ; Brinda Shah [Canada] ; David Weir [Canada] ; Christina Thompson [Canada] ; Chelsea Szu-Tu [Canada] ; Joanne Trinh [Canada] ; Jan O. Aasly [Norvège] ; Alex Rajput [Canada] ; Ali H. Rajput [Canada] ; A. Jon Stoessl [Canada] ; Matthew J. Farrer [Canada]Source :
- [ 0885-3185 ]
Abstract
Alpha‐synuclein plays a central role in the pathophysiology of Parkinson's disease. Three missense mutations in SNCA, the gene encoding alpha‐synuclein, as well as genomic multiplications have been identified as causes for autosomal‐dominantly inherited Parkinsonism.
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DOI: 10.1002/mds.25421
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Research Centre, University of British Columbia, British Columbia, Vancouver</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: silkec@mail.ubc.ca</mods:affiliation><country wicri:rule="url">Canada</country></affiliation></author><author><name sortKey="Vilarino Uell, Carles" sort="Vilarino Uell, Carles" uniqKey="Vilarino Uell C" first="Carles" last="Vilarino-Guell">Carles Vilarino-Guell</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver</wicri:regionArea></affiliation></author><author><name sortKey="Encarnacion, Mary" sort="Encarnacion, Mary" uniqKey="Encarnacion M" first="Mary" last="Encarnacion">Mary Encarnacion</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver</wicri:regionArea></affiliation></author><author><name sortKey="Sherman, Holly" sort="Sherman, Holly" uniqKey="Sherman H" first="Holly" last="Sherman">Holly Sherman</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver</wicri:regionArea></affiliation></author><author><name sortKey="Yu, Irene" sort="Yu, Irene" uniqKey="Yu I" first="Irene" last="Yu">Irene Yu</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver</wicri:regionArea></affiliation></author><author><name sortKey="Shah, Brinda" sort="Shah, Brinda" uniqKey="Shah B" first="Brinda" last="Shah">Brinda Shah</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver</wicri:regionArea></affiliation></author><author><name sortKey="Weir, David" sort="Weir, David" uniqKey="Weir D" first="David" last="Weir">David Weir</name><affiliation wicri:level="1"><mods:affiliation>Department of Medicine (Neurology), Pacific Parkinson's Research Centre, University of British Columbia, British Columbia, Vancouver, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medicine (Neurology), Pacific Parkinson's Research Centre, University of British Columbia, British Columbia, Vancouver</wicri:regionArea></affiliation></author><author><name sortKey="Thompson, Christina" sort="Thompson, Christina" uniqKey="Thompson C" first="Christina" last="Thompson">Christina Thompson</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver</wicri:regionArea></affiliation></author><author><name sortKey="Szu U, Chelsea" sort="Szu U, Chelsea" uniqKey="Szu U C" first="Chelsea" last="Szu-Tu">Chelsea Szu-Tu</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver</wicri:regionArea></affiliation></author><author><name sortKey="Trinh, Joanne" sort="Trinh, Joanne" uniqKey="Trinh J" first="Joanne" last="Trinh">Joanne Trinh</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver</wicri:regionArea></affiliation></author><author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O." last="Aasly">Jan O. Aasly</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, St. Olav's Hospital, Trondheim, Norway</mods:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Neurology, St. Olav's Hospital, Trondheim</wicri:regionArea></affiliation></author><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><affiliation wicri:level="1"><mods:affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatchewan, Saskatoon, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatchewan, Saskatoon</wicri:regionArea></affiliation></author><author><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H." last="Rajput">Ali H. Rajput</name><affiliation wicri:level="1"><mods:affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatchewan, Saskatoon, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatchewan, Saskatoon</wicri:regionArea></affiliation></author><author><name sortKey="Jon Stoessl, A" sort="Jon Stoessl, A" uniqKey="Jon Stoessl A" first="A." last="Jon Stoessl">A. Jon Stoessl</name><affiliation wicri:level="1"><mods:affiliation>Department of Medicine (Neurology), Pacific Parkinson's Research Centre, University of British Columbia, British Columbia, Vancouver, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medicine (Neurology), Pacific Parkinson's Research Centre, University of British Columbia, British Columbia, Vancouver</wicri:regionArea></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><affiliation wicri:level="1"><mods:affiliation>Department of Medicine (Neurology), Pacific Parkinson's Research Centre, University of British Columbia, Vancouver, British Columbia, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medicine (Neurology), Pacific Parkinson's Research Centre, University of British Columbia, Vancouver, British Columbia</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver</wicri:regionArea></affiliation></author></analytic><series><idno type="ISSN">0885-3185</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract">Alpha‐synuclein plays a central role in the pathophysiology of Parkinson's disease. Three missense mutations in SNCA, the gene encoding alpha‐synuclein, as well as genomic multiplications have been identified as causes for autosomal‐dominantly inherited Parkinsonism.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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