A novel α-synuclein missense mutation in Parkinson disease. | LitMetric

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A novel α-synuclein missense mutation in Parkinson disease. | LitMetric

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

Department of Clinical Neuroscience, University College London, UK.

Published: March 2013

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.

Download full-text PDF	Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3653201	PMC
http://dx.doi.org/10.1212/WNL.0b013e31828727ba	DOI Listing

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