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Journal Abstract Search

193 related items for PubMed ID: 7999319

  • 1. 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
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  • 2. 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; 53(4):822-7. PubMed ID: 8105681
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  • 4. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: clinical, pathological and molecular features.
    Gambetti P, Parchi P, Petersen RB, Chen SG, Lugaresi E.
    Brain Pathol; 1995 Jan; 5(1):43-51. PubMed ID: 7767490
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  • 7. 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 03; 110(36):14759-64. PubMed ID: 23959875
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  • 8. Hereditary Creutzfeldt-Jakob disease and fatal familial insomnia.
    Gambetti P, Parchi P, Chen SG.
    Clin Lab Med; 2003 Mar 03; 23(1):43-64. PubMed ID: 12733424
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  • 11. Molecular genetics of prion diseases in France. French Research Group on Epidemiology of Human Spongiform Encephalopathies.
    Laplanche JL, Delasnerie-Lauprêtre N, Brandel JP, Chatelain J, Beaudry P, Alpérovitch A, Launay JM.
    Neurology; 1994 Dec 03; 44(12):2347-51. PubMed ID: 7991124
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  • 12. [Fatal familial insomnia: phenotypic changes determined by polymorphism of the codon 129].
    Colombier C, Géraud G, Delisle MB, Laplanche JL, Pavy le Traon A, Alizé P, Delpla PA.
    Rev Neurol (Paris); 1997 May 03; 153(4):239-43. PubMed ID: 9296141
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  • 13. [Genetic background of human prion diseases].
    Kovács GG.
    Ideggyogy Sz; 2007 Nov 30; 60(11-12):438-46. PubMed ID: 18198790
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  • 15. 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 30; 3(9):1009-15. PubMed ID: 9288728
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  • 16. 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
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  • 20. Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene.
    Medori R, Tritschler HJ, LeBlanc A, Villare F, Manetto V, Chen HY, Xue R, Leal S, Montagna P, Cortelli P.
    N Engl J Med; 1992 Feb 13; 326(7):444-9. PubMed ID: 1346338
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