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Journal Abstract Search

214 related items for PubMed ID: 8105681

  • 1. 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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  • 2. 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 Oct; 8(2-3):99-103. PubMed ID: 7999319
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  • 3. 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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  • 5. 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
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  • 8. 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 30; 35(5):1177-88. PubMed ID: 24360565
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  • 9. 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 May 30; 9(3):228-35. PubMed ID: 26074146
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  • 12. Novel twelve-generation kindred of fatal familial insomnia from germany representing the entire spectrum of disease expression.
    Harder A, Jendroska K, Kreuz F, Wirth T, Schafranka C, Karnatz N, Théallier-Janko A, Dreier J, Lohan K, Emmerich D, Cervós-Navarro J, Windl O, Kretzschmar HA, Nürnberg P, Witkowski R.
    Am J Med Genet; 1999 Dec 03; 87(4):311-6. PubMed ID: 10588836
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  • 15. Fatal familial insomnia with a mutation at codon 178 of the prion protein gene: first report from Japan.
    Nagayama M, Shinohara Y, Furukawa H, Kitamoto T.
    Neurology; 1996 Nov 03; 47(5):1313-6. PubMed ID: 8909448
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  • 16. Fatal familial insomnia in a new Italian kindred.
    Padovani A, D'Alessandro M, Parchi P, Cortelli P, Anzola GP, Montagna P, Vignolo LA, Petraroli R, Pocchiari M, Lugaresi E, Gambetti P.
    Neurology; 1998 Nov 03; 51(5):1491-4. PubMed ID: 9818894
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  • 17. Mutation in codon 200 and polymorphism in codon 129 of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease.
    Gabizon R, Rosenman H, Meiner Z, Kahana I, Kahana E, Shugart Y, Ott J, Prusiner SB.
    Philos Trans R Soc Lond B Biol Sci; 1994 Mar 29; 343(1306):385-90. PubMed ID: 7913755
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