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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: miravalle l. J Neuropathol Exp Neurol. 2004 Apr;63(4):363-80. doi: 10.1093/jnen/63.4.363. J Neuropathol Exp Neurol. 2004. PMID: 15099026
A mutation in myotilin causes spheroid body myopathy.
Foroud T, Pankratz N, Batchman AP, Pauciulo MW, Vidal R, Miravalle L, Goebel HH, Cushman LJ, Azzarelli B, Horak H, Farlow M, Nichols WC. Foroud T, et al. Among authors: miravalle l. Neurology. 2005 Dec 27;65(12):1936-40. doi: 10.1212/01.wnl.0000188872.28149.9a. Neurology. 2005. PMID: 16380616
Failure to detect the presence of prions in the uterine and gestational tissues from a Gravida with Creutzfeldt-Jakob disease.
Xiao X, Miravalle L, Yuan J, McGeehan J, Dong Z, Wyza R, MacLennan GT, Golichowski AM, Kneale G, King N, Kong Q, Spina S, Vidal R, Ghetti B, Roos K, Gambetti P, Zou WQ. Xiao X, et al. Among authors: miravalle l. Am J Pathol. 2009 May;174(5):1602-8. doi: 10.2353/ajpath.2009.081045. Epub 2009 Apr 6. Am J Pathol. 2009. PMID: 19349373 Free PMC article.
A novel mutation (G217D) in the Presenilin 1 gene ( PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum.
Takao M, Ghetti B, Hayakawa I, Ikeda E, Fukuuchi Y, Miravalle L, Piccardo P, Murrell JR, Glazier BS, Koto A. Takao M, et al. Among authors: miravalle l. Acta Neuropathol. 2002 Aug;104(2):155-70. doi: 10.1007/s00401-002-0536-6. Epub 2002 Apr 19. Acta Neuropathol. 2002. PMID: 12111359
19 results