Borroni B, Pilotto A, Bonvicini C, Archetti S, Alberici A, Lupi A, Gennarelli M, Padovani A. Atypical presentation of a novel Presenilin 1 R377W mutation: sporadic, late-onset Alzheimer disease with epilepsy and frontotemporal atrophy. Neurol Sci. 2011 Aug 6; PubMed.

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Mutations

  1. PSEN1 R377W