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Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity.
Piccardo P, Dlouhy SR, Lievens PM, Young K, Bird TD, Nochlin D, Dickson DW, Vinters HV, Zimmerman TR, Mackenzie IR, Kish SJ, Ang LC, De Carli C, Pocchiari M, Brown P, Gibbs CJ Jr, Gajdusek DC, Bugiani O, Ironside J, Tagliavini F, Ghetti B. Piccardo P, et al. Among authors: nochlin d. J Neuropathol Exp Neurol. 1998 Oct;57(10):979-88. doi: 10.1097/00005072-199810000-00010. J Neuropathol Exp Neurol. 1998. PMID: 9786248
Prion proteins with different conformations accumulate in Gerstmann-Sträussler-Scheinker disease caused by A117V and F198S mutations.
Piccardo P, Liepnieks JJ, William A, Dlouhy SR, Farlow MR, Young K, Nochlin D, Bird TD, Nixon RR, Ball MJ, DeCarli C, Bugiani O, Tagliavini F, Benson MD, Ghetti B. Piccardo P, et al. Among authors: nochlin d. Am J Pathol. 2001 Jun;158(6):2201-7. doi: 10.1016/S0002-9440(10)64692-5. Am J Pathol. 2001. PMID: 11395398 Free PMC article.
84 results