Coppola C, Saracino D, Oliva M, Cipriano L, Puoti G, Pappatà S, Di Fede G, Catania M, Ricci M, Cimini S, Giaccone G, Bonavita S, Rossi G. Singular cases of Alzheimer's disease disclose new and old genetic "acquaintances". Neurol Sci. 2020 Oct 2; PubMed.

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Mutations

  1. PSEN2 S236S
  2. PSEN1 E318G
  3. PSEN2 R71W