References
- Prusiner SB. Molecular biology of prion diseases. Science 1991; 252:1515 - 1522
- Basler K, Oesch B, Scott M, Westaway D, Walchli M, Groth DF, et al. Scrapie and cellular PrP isoforms are encoded by the same chromosomal gene. Cell 1986; 46:417 - 428
- Aguzzi A, Baumann F, Bremer J. The prion's elusive reason for being. Annu Rev Neurosci 2008; 31:439 - 477
- Mead S. Prion disease genetics. Europ J Hum Genet 2006; 14:273 - 281
- Kovacs GG, Puopolo M, Ladogana A, Pocchiari M, Budka H, van Duijn C, et al. Genetic prion disease: the EUROCJD experience. Hum Genet 2005; 118:166 - 174
- Goldfarb LG, Brown P, Haltia M, Cathala F, McCombie WR, Kovanen J, et al. Creutzfeldt-Jakob disease cosegregates with the codon 178-asn PRNP mutation in Families of European origin. Ann Neurol 1992; 31:274 - 281
- Zarranz JJ, Digon A, Atarés B, Rodríguez-Martínez AB, Arce A, Carrera N, et al. Phenotypic variability in familial prion diseases due to the D178N mutation. J Neurol Neurosurg Psychiatry 2005; 76:1491 - 1496
- Goldfarb LG, Mitrová E, Brown P, Toh BK, Gajdusek DC. Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia. Lancet 1990; 336:514 - 515
- Puoti G, Rossi G, Giaccone G, Awan T, Lievens PM, Defanti CA, et al. Polymorphism at codon 129 of PRNP affects the phenotypic expression of Creutzfeldt-Jakob disease linked to E200K mutation. Ann Neurol 2000; 48:269 - 270
- Hainfellner JA, Parchi P, Kitamoto T, Jarius C, Gambetti P, Budka H. A novel phenotype in familial Creutzfeldt-Jakob disease: prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease-resistant prion protein. Ann Neurol 1999; 45:812 - 816
- Collinge J, Palmer MS. Prion diseases. Curr Opin Genet Dev 1992; 2:448 - 454
- Collinge J. Molecular neurology of prion disease. J Neurol Neurosurg Psychiatry 2005; 76:906 - 919
- Sambrook J, Russell DW. Molecular cloning 2001; New York CSHL Press, Cold Spring Harbor
- Young K, Clark HB, Piccardo P, Dlouhy SR, Ghetti B. Gerstmann-Sträussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129. Brain Res Mol Brain Res 1997; 44:147 - 150
- Asante EA, Gowland I, Grimshaw A, Linehan JM, Smidak M, et al. Absence of spontaneous disease and comparative prion susceptibility of transgenic mice expressing mutant human prion proteins. J Gen Virol 2009; 90:546 - 558