| 1 | IDTF
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| Sporadic fatal insomnia: a case study.
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| Scaravilli F, Cordery RJ, Kretzschmar H, Gambetti P, Brink B, Fritz V, Temlett J, Kaplan C, Fish D, An SF, Schulz-Schaeffer WJ, Rossor MN.
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| Ann Neurol 48(4):665-8. 2000
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| 2 | IDTF
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| Novel twelve-generation kindred of fatal familial insomnia from germany representing the entire spectrum of disease expression.
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| Harder A, Jendroska K, Kreuz F, Wirth T, Schafranka C, Karnatz N, Theallier-Janko A, Dreier J, Lohan K, Emmerich D, Cervos-Navarro J, Windl O, Kretzschmar HA, Nurnberg P, Witkowski R.
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| Am J Med Genet 87(4):311-6 1999
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| 3 | IDTF, PRNP
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| Clinical features of fatal familial insomnia : phenotypic variability in relation to a polymorphism at codon 129 of the prion protein gene.
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| Montagna P, et al.
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| Brain Pathol 8 : 515-520. 1998
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| 4 | IDTF, PRNP
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| The D178N (cis-129M) fatal familial insomnia mutation associated with diverse clinicopathologic phenotypes in an Australian kindred.
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| McLean CA, Storey E, Gardner RJ, Tannenberg AE, Cervenakova L, Brown P.
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| Neurology 49(2):552-8. 1997
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| 5 | PRNP, IDTF
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| Prion protein gene analysis in three kindreds with fatal familial insomnia (FFI) : codon 178 mutation and codon 129 polymorphism.
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| Medori R, et al.
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| Am J Hum Genet 53 : 822-827. 1993
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| 6 | IDTF
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| Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene.
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| Medori R, et al.
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| N Engl J Med 326 : 444-449. 1992
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| 7 | IDTF
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| Fatal familial insomnia and familial Creutzfeldt-Jakob disease : disease phenotype determined by a DNA polymorphism.
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| Goldfarb LG, et al.
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| Science 258 : 806-808. 1992
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