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Journal Abstract Search
240 related items for PubMed ID: 9528048
21. Genetic analysis of Creutzfeldt-Jakob disease and related disorders. Goldfarb LG, Brown P, Cervenakova L, Gajdusek DC. Philos Trans R Soc Lond B Biol Sci; 1994 Mar 29; 343(1306):379-84. PubMed ID: 8041803 [Abstract] [Full Text] [Related]
22. Genetics of human prion disease. Ridley RM, Baker HF. Dev Biol Stand; 1993 Mar 29; 80():15-23. PubMed ID: 7903647 [Abstract] [Full Text] [Related]
23. [Sleep disorders in prion diseases]. Ayuso T, Tuñón T, Erro ME. An Sist Sanit Navar; 2007 Mar 29; 30 Suppl 1():135-41. PubMed ID: 17486154 [Abstract] [Full Text] [Related]
24. Circadian hormonal rhythms in two new cases of fatal familial insomnia. Avoni P, Cortelli P, Montagna P, Tinuper P, Sforza E, Contin M, Parchi P, Pierangeli G, Maltoni P, Pavani A. Acta Neurol (Napoli); 1991 Dec 29; 13(6):574-6. PubMed ID: 1805556 [Abstract] [Full Text] [Related]
25. 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]
26. The human prion diseases. A review with special emphasis on new variant CJD and comments on surveillance. Keohane C. Clin Exp Pathol; 1999 Mar 29; 47(3-4):125-32. PubMed ID: 10472732 [Abstract] [Full Text] [Related]
27. 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]
28. Influence of amino acid substitutions related to inherited human prion diseases on the thermodynamic stability of the cellular prion protein. Liemann S, Glockshuber R. Biochemistry; 1999 Mar 16; 38(11):3258-67. PubMed ID: 10079068 [Abstract] [Full Text] [Related]
29. 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 Mar 16; 8(2-3):99-103. PubMed ID: 7999319 [Abstract] [Full Text] [Related]
30. Prion disease with a 144 base pair insertion: unusual cerebellar prion protein immunoreactivity. Gelpi E, Kovacs GG, Ströbel T, Koperek O, Voigtländer T, Liberski PP, Budka H. Acta Neuropathol; 2005 Nov 16; 110(5):513-9. PubMed ID: 16155763 [Abstract] [Full Text] [Related]
32. Prion protein gene analysis in three kindreds with fatal familial insomnia (FFI): codon 178 mutation and codon 129 polymorphism. Medori R, Tritschler HJ. Am J Hum Genet; 1993 Oct 16; 53(4):822-7. PubMed ID: 8105681 [Abstract] [Full Text] [Related]
33. Does the clinical phenotype of fatal familial insomnia depend on PRNP codon 129 methionine-valine polymorphism? Rupprecht S, Grimm A, Schultze T, Zinke J, Karvouniari P, Axer H, Witte OW, Schwab M. J Clin Sleep Med; 2013 Dec 15; 9(12):1343-5. PubMed ID: 24340298 [Abstract] [Full Text] [Related]
34. [Creutzfeldt-Jakob disease and other human transmissible spongiform encephalopathies. Part I]. Zaborowski A. Psychiatr Pol; 2004 Dec 15; 38(2):283-96. PubMed ID: 15307293 [Abstract] [Full Text] [Related]
35. Fatal familial insomnia: genetic, neuropathologic, and biochemical study of a patient from a new Italian kindred. Rossi G, Macchi G, Porro M, Giaccone G, Bugiani M, Scarpini E, Scarlato G, Molini GE, Sasanelli F, Bugiani O, Tagliavini F. Neurology; 1998 Mar 15; 50(3):688-92. PubMed ID: 9521257 [Abstract] [Full Text] [Related]
36. Fatal familial insomnia with an unusual prion protein deposition pattern: an autopsy report with an experimental transmission study. Sasaki K, Doh-ura K, Wakisaka Y, Tomoda H, Iwaki T. Neuropathol Appl Neurobiol; 2005 Feb 15; 31(1):80-7. PubMed ID: 15634234 [Abstract] [Full Text] [Related]
37. Familial fatal insomnia with atypical clinical features in a patient with D178N mutation and homozygosity for Met at codon 129 of the prion protein gene. Sun L, Li X, Lin X, Yan F, Chen K, Xiao S. Prion; 2015 Feb 15; 9(3):228-35. PubMed ID: 26074146 [Abstract] [Full Text] [Related]
38. Absence of sleep EEG markers in fatal familial insomnia healthy carriers: a spectral analysis study. Ferrillo F, Plazzi G, Nobili L, Beelke M, De Carli F, Cortelli P, Tinuper P, Avoni P, Vandi S, Gambetti P, Lugaresi E, Montagna P. Clin Neurophysiol; 2001 Oct 15; 112(10):1888-92. PubMed ID: 11595148 [Abstract] [Full Text] [Related]