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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; 271(21):12661-8. PubMed ID: 8647879 [TBL] [Abstract][Full Text] [Related]
5. Conclusions of the symposium. Gambetti P; Lugaresi E Brain Pathol; 1998 Jul; 8(3):571-5. PubMed ID: 9669714 [TBL] [Abstract][Full Text] [Related]
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7. Allelic origin of the abnormal prion protein isoform in familial prion diseases. Chen SG; Parchi P; Brown P; Capellari S; Zou W; Cochran EJ; Vnencak-Jones CL; Julien J; Vital C; Mikol J; Lugaresi E; Autilio-Gambetti L; Gambetti P Nat Med; 1997 Sep; 3(9):1009-15. PubMed ID: 9288728 [TBL] [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; 49(2):552-8. PubMed ID: 9270595 [TBL] [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; 91(7):2839-42. PubMed ID: 7908444 [TBL] [Abstract][Full Text] [Related]
11. Profoundly different prion diseases in knock-in mice carrying single PrP codon substitutions associated with human diseases. Jackson WS; Borkowski AW; Watson NE; King OD; Faas H; Jasanoff A; Lindquist S Proc Natl Acad Sci U S A; 2013 Sep; 110(36):14759-64. PubMed ID: 23959875 [TBL] [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; 46(3):758-61. PubMed ID: 8618678 [TBL] [Abstract][Full Text] [Related]
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19. A novel mechanism of phenotypic heterogeneity demonstrated by the effect of a polymorphism on a pathogenic mutation in the PRNP (prion protein gene). Petersen RB; Goldfarb LG; Tabaton M; Brown P; Monari L; Cortelli P; Montagna P; Autilio-Gambetti L; Gajdusek DC; Lugaresi E Mol Neurobiol; 1994; 8(2-3):99-103. PubMed ID: 7999319 [TBL] [Abstract][Full Text] [Related]