Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.
Identifieur interne : 001395 ( Ncbi/Curation ); précédent : 001394; suivant : 001396Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.
Auteurs : Silke Appel-Cresswell [Canada] ; Carles Vilarino-Guell ; Mary Encarnacion ; Holly Sherman ; Irene Yu ; Brinda Shah ; David Weir ; Christina Thompson ; Chelsea Szu-Tu ; Joanne Trinh ; Jan O. Aasly ; Alex Rajput ; Ali H. Rajput ; A. Jon Stoessl ; Matthew J. FarrerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
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.
DOI: 10.1002/mds.25421
PubMed: 23457019
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pubmed:23457019Le document en format XML
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Aasly</name></author><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name></author><author><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H" last="Rajput">Ali H. Rajput</name></author><author><name sortKey="Jon Stoessl, A" sort="Jon Stoessl, A" uniqKey="Jon Stoessl A" first="A" last="Jon Stoessl">A. Jon Stoessl</name></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</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>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" xml:lang="en">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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