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De novo seven extra-repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia
  1. Milena Cannella (genetics{at}neuromed.it)
  1. Neurogenetics Unit, IRCCS Neuromed, Pozzilli, Italy, Italy
    1. Tiziana Martino (neurogen{at}neuromed.it)
    1. Neurogenetics Unit, IRCCS Neuromed, Pozzilli, Italy, Italy
      1. Maria Simonelli (simonelli{at}neuromed.it)
      1. IRCCS Neuromed, Pozzilli (IS), Italy, Italy
        1. Andrea Ciammola (a.ciammola{at}auxologico.it)
        1. IRCCS Auxologico, Milan, Italy, Italy
          1. Roberto Gradini (gradini{at}uniroma1.it)
          1. University of Rome, Rome, and IRCCS Neuromed, Pozzilli, Italy, Italy
            1. Andrea Ciarmiello (ciarmiello.mednuc{at}fondazionepascale.it)
            1. IRCCS Pascale, Naples, Italy, Italy
              1. Fernando Gianfrancesco (fgianfrancesco{at}isa.cnr.it)
              1. National research Council, Naples, Italy, Italy
                1. Ferdinando Squitieri (ferdinandosquitieri{at}yahoo.it)
                1. Neurogenetics Unit, IRCCS Neuromed, Pozzilli, Italy, Italy

                  Abstract

                  N/A

                  • Creutzfeldt-Jacob disease
                  • PRNP mutation
                  • de novo mutation
                  • early dementia
                  • extra octapeptide repeat

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