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Neurology. 2013 Mar 12;80(11):1062-4. doi: 10.1212/WNL.0b013e31828727ba. Epub 2013 Feb 20.

A novel α-synuclein missense mutation in Parkinson disease.

Author information

1
Department of Clinical Neuroscience, University College London, UK. c.proukakis@ucl.ac.uk

Abstract

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.

PMID:
23427326
PMCID:
PMC3653201
DOI:
10.1212/WNL.0b013e31828727ba
[Indexed for MEDLINE]
Free PMC Article

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