Browsing Centre for Preventative Neurology by Author "International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium"

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    • Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease. 

      Blauwendraat, C; Kia, DA; Pihlstrøm, L; Gan-Or, Z; Lesage, S; Gibbs, JR; Ding, J; Alcalay, RN; Hassin-Baer, S; Pittman, AM (Elsevier, 2017-12-20)
      SNCA missense mutations are a rare cause of autosomal dominant Parkinson's disease (PD). To date, 6 missense mutations in SNCA have been nominated as causal. Here, we assess the frequency of these 6 mutations in public ...