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Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene.
Vidal R, Ghetti B, Takao M, Brefel-Courbon C, Uro-Coste E, Glazier BS, Siani V, Benson MD, Calvas P, Miravalle L, Rascol O, Delisle MB. Vidal R, et al. Among authors: benson md. J Neuropathol Exp Neurol. 2004 Apr;63(4):363-80. doi: 10.1093/jnen/63.4.363. J Neuropathol Exp Neurol. 2004. PMID: 15099026
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: benson md. 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.
421 results