2010

1. A Novel PRNP Y218N mutation in gerstmann-sträussler-scheinker disease with neurofibrillary degeneration

   Journal of Neuropathology and Experimental Neurology, Vol. 69, Núm. 8, pp. 789-800

2. Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene

   American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 153, Núm. 7, pp. 1283-1291