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A novel α-synuclein missense mutation in Parkinson disease.
Christos Proukakis, Christopher G Dudzik, Timothy Brier, Donna S MacKay, J Mark Cooper, Glenn L Millhauser, Henry Houlden, Anthony H Schapira
Neurology 2013 Mar 12Sizes of these terms reflect their relevance to your search.
Alpha-synuclein (SNCA) is central to the pathogenesis of Parkinson disease (PD), with 3 missense mutations reported to date. We report a novel mutation (p.H50Q) in a pathologically proven case.
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Christos Proukakis, Christopher G Dudzik, Timothy Brier, Donna S MacKay, J Mark Cooper, Glenn L Millhauser, Henry Houlden, Anthony H Schapira. A novel α-synuclein missense mutation in Parkinson disease. Neurology. 2013 Mar 12;80(11):1062-4
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PMID: 23427326
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