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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. 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 [TBL] [Abstract][Full Text] [Related]
11. Identification of new molecular alterations in fatal familial insomnia. Llorens F; Thüne K; Schmitz M; Ansoleaga B; Frau-Méndez MA; Cramm M; Tahir W; Gotzmann N; Berjaoui S; Carmona M; Silva CJ; Fernandez-Vega I; José Zarranz J; Zerr I; Ferrer I Hum Mol Genet; 2016 Jun; 25(12):2417-2436. PubMed ID: 27056979 [TBL] [Abstract][Full Text] [Related]
12. 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; 112(10):1888-92. PubMed ID: 11595148 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Fatal familial insomnia: clinical and pathologic heterogeneity in genetic half brothers. Johnson MD; Vnencak-Jones CL; McLean MJ Neurology; 1998 Dec; 51(6):1715-7. PubMed ID: 9855529 [TBL] [Abstract][Full Text] [Related]
16. 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; 9(3):228-35. PubMed ID: 26074146 [TBL] [Abstract][Full Text] [Related]
17. Clinical features of fatal familial insomnia: phenotypic variability in relation to a polymorphism at codon 129 of the prion protein gene. Montagna P; Cortelli P; Avoni P; Tinuper P; Plazzi G; Gallassi R; Portaluppi F; Julien J; Vital C; Delisle MB; Gambetti P; Lugaresi E Brain Pathol; 1998 Jul; 8(3):515-20. PubMed ID: 9669701 [TBL] [Abstract][Full Text] [Related]
18. The pathophysiology of fatal familial insomnia. Lugaresi E; Tobler I; Gambetti P; Montagna P Brain Pathol; 1998 Jul; 8(3):521-6. PubMed ID: 9669702 [TBL] [Abstract][Full Text] [Related]
20. 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; 47(5):1313-6. PubMed ID: 8909448 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]