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4. Effect of the D178N mutation and the codon 129 polymorphism on the metabolism of the prion protein. Petersen RB, Parchi P, Richardson SL, Urig CB, Gambetti P. J Biol Chem; 1996 May 24; 271(21):12661-8. PubMed ID: 8647879 [Abstract] [Full Text] [Related]
5. Conclusions of the symposium. Gambetti P, Lugaresi E. Brain Pathol; 1998 Jul 24; 8(3):571-5. PubMed ID: 9669714 [Abstract] [Full Text] [Related]
6. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. Goldfarb LG, Petersen RB, Tabaton M, Brown P, LeBlanc AC, Montagna P, Cortelli P, Julien J, Vital C, Pendelbury WW. Science; 1992 Oct 30; 258(5083):806-8. PubMed ID: 1439789 [Abstract] [Full Text] [Related]
9. The D178N (cis-129M) "fatal familial insomnia" mutation associated with diverse clinicopathologic phenotypes in an Australian kindred. McLean CA, Storey E, Gardner RJ, Tannenberg AE, Cervenáková L, Brown P. Neurology; 1997 Aug 30; 49(2):552-8. PubMed ID: 9270595 [Abstract] [Full Text] [Related]
10. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism. Monari L, Chen SG, Brown P, Parchi P, Petersen RB, Mikol J, Gray F, Cortelli P, Montagna P, Ghetti B. Proc Natl Acad Sci U S A; 1994 Mar 29; 91(7):2839-42. PubMed ID: 7908444 [Abstract] [Full Text] [Related]
12. Fatal insomnia in a case of familial Creutzfeldt-Jakob disease with the codon 200(Lys) mutation. Chapman J, Arlazoroff A, Goldfarb LG, Cervenakova L, Neufeld MY, Werber E, Herbert M, Brown P, Gajdusek DC, Korczyn AD. Neurology; 1996 Mar 29; 46(3):758-61. PubMed ID: 8618678 [Abstract] [Full Text] [Related]
15. Transgenic fatal familial insomnia mice indicate prion infectivity-independent mechanisms of pathogenesis and phenotypic expression of disease. Bouybayoune I, Mantovani S, Del Gallo F, Bertani I, Restelli E, Comerio L, Tapella L, Baracchi F, Fernández-Borges N, Mangieri M, Bisighini C, Beznoussenko GV, Paladini A, Balducci C, Micotti E, Forloni G, Castilla J, Fiordaliso F, Tagliavini F, Imeri L, Chiesa R. PLoS Pathog; 2015 Apr 29; 11(4):e1004796. PubMed ID: 25880443 [Abstract] [Full Text] [Related]
16. Association of prion protein genotype and scrapie prion protein type with cellular prion protein charge isoform profiles in cerebrospinal fluid of humans with sporadic or familial prion diseases. Schmitz M, Lüllmann K, Zafar S, Ebert E, Wohlhage M, Oikonomou P, Schlomm M, Mitrova E, Beekes M, Zerr I. Neurobiol Aging; 2014 May 29; 35(5):1177-88. PubMed ID: 24360565 [Abstract] [Full Text] [Related]