Browsing by Author "Zecchinelli, AL"

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    • Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. 

      Mencacci, NE; Isaias, IU; Reich, MM; Ganos, C; Plagnol, V; Polke, JM; Bras, J; Hersheson, J; Stamelou, M; Pittman, AM (2014-09)
      GTP cyclohydrolase 1, encoded by the GCH1 gene, is an essential enzyme for dopamine production in nigrostriatal cells. Loss-of-function mutations in GCH1 result in severe reduction of dopamine synthesis in nigrostriatal ...