Alpha‐synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease
Identifieur interne : 000E93 ( Main/Exploration ); précédent : 000E92; suivant : 000E94Alpha‐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 ]
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Glutamine, Histidine, alpha-Synuclein.
- genetics : Mutation, Parkinson Disease.
- Humans, Male, Middle Aged, Pedigree.
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.
Url:
DOI: 10.1002/mds.25421
Affiliations:
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University of British Columbia, British Columbia, Vancouver</wicri:regionArea><wicri:noRegion>Vancouver</wicri:noRegion></affiliation><affiliation wicri:level="1"><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"><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><wicri:noRegion>Vancouver</wicri:noRegion></affiliation></author><author><name sortKey="Encarnacion, Mary" sort="Encarnacion, Mary" uniqKey="Encarnacion M" first="Mary" last="Encarnacion">Mary Encarnacion</name><affiliation wicri:level="1"><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><wicri:noRegion>Vancouver</wicri:noRegion></affiliation></author><author><name sortKey="Sherman, Holly" sort="Sherman, Holly" uniqKey="Sherman H" first="Holly" last="Sherman">Holly Sherman</name><affiliation wicri:level="1"><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><wicri:noRegion>Vancouver</wicri:noRegion></affiliation></author><author><name sortKey="Yu, Irene" sort="Yu, Irene" uniqKey="Yu I" first="Irene" last="Yu">Irene Yu</name><affiliation wicri:level="1"><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><wicri:noRegion>Vancouver</wicri:noRegion></affiliation></author><author><name sortKey="Shah, Brinda" 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Columbia, Vancouver</wicri:regionArea><wicri:noRegion>Vancouver</wicri:noRegion></affiliation></author><author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O." last="Aasly">Jan O. 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Rajput</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatchewan, Saskatoon</wicri:regionArea><wicri:noRegion>Saskatoon</wicri:noRegion></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"><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><wicri:noRegion>Vancouver</wicri:noRegion></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"><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><wicri:noRegion>British Columbia</wicri:noRegion></affiliation><affiliation wicri:level="1"><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><wicri:noRegion>Vancouver</wicri:noRegion></affiliation></author></analytic><series><idno type="ISSN">0885-3185</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Glutamine (genetics)</term><term>Histidine (genetics)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (genetics)</term><term>Pedigree</term><term>alpha-Synuclein (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glutamine</term><term>Histidine</term><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term></keywords></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><affiliations><list><country><li>Canada</li><li>Norvège</li></country><region><li>Trøndelag</li></region><settlement><li>Trondheim</li></settlement></list><tree><country name="Canada"><noRegion><name sortKey="Appel Resswell, Silke" sort="Appel Resswell, Silke" uniqKey="Appel Resswell S" first="Silke" last="Appel-Cresswell">Silke Appel-Cresswell</name></noRegion><name sortKey="Appel Resswell, Silke" sort="Appel Resswell, Silke" uniqKey="Appel Resswell S" first="Silke" last="Appel-Cresswell">Silke Appel-Cresswell</name><name sortKey="Encarnacion, Mary" sort="Encarnacion, Mary" uniqKey="Encarnacion M" first="Mary" last="Encarnacion">Mary Encarnacion</name><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><name sortKey="Jon Stoessl, A" sort="Jon Stoessl, A" uniqKey="Jon Stoessl A" first="A." last="Jon Stoessl">A. Jon Stoessl</name><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H." last="Rajput">Ali H. Rajput</name><name sortKey="Shah, Brinda" sort="Shah, Brinda" uniqKey="Shah B" first="Brinda" last="Shah">Brinda Shah</name><name sortKey="Sherman, Holly" sort="Sherman, Holly" uniqKey="Sherman H" first="Holly" last="Sherman">Holly Sherman</name><name sortKey="Szu U, Chelsea" sort="Szu U, Chelsea" uniqKey="Szu U C" first="Chelsea" last="Szu-Tu">Chelsea Szu-Tu</name><name sortKey="Thompson, Christina" sort="Thompson, Christina" uniqKey="Thompson C" first="Christina" last="Thompson">Christina Thompson</name><name sortKey="Trinh, Joanne" sort="Trinh, Joanne" uniqKey="Trinh J" first="Joanne" last="Trinh">Joanne Trinh</name><name sortKey="Vilarino Uell, Carles" sort="Vilarino Uell, Carles" uniqKey="Vilarino Uell C" first="Carles" last="Vilarino-Guell">Carles Vilarino-Guell</name><name sortKey="Weir, David" sort="Weir, David" uniqKey="Weir D" first="David" last="Weir">David Weir</name><name sortKey="Yu, Irene" sort="Yu, Irene" uniqKey="Yu I" first="Irene" last="Yu">Irene Yu</name></country><country name="Norvège"><region name="Trøndelag"><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O." last="Aasly">Jan O. Aasly</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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