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GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
Caciotti A, Garman SC, Rivera-Colón Y, Procopio E, Catarzi S, Ferri L, Guido C, Martelli P, Parini R, Antuzzi D, Battini R, Sibilio M, Simonati A, Fontana E, Salviati A, Akinci G, Cereda C, Dionisi-Vici C, Deodato F, d'Amico A, d'Azzo A, Bertini E, Filocamo M, Scarpa M, di Rocco M, Tifft CJ, Ciani F, Gasperini S, Pasquini E, Guerrini R, Donati MA, Morrone A. Caciotti A, et al. Among authors: salviati a. Biochim Biophys Acta. 2011 Jul;1812(7):782-90. doi: 10.1016/j.bbadis.2011.03.018. Epub 2011 Apr 7. Biochim Biophys Acta. 2011. PMID: 21497194 Free PMC article.
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.
Tonin R, Caciotti A, Procopio E, Fischetto R, Deodato F, Mancardi MM, Di Rocco M, Ardissone A, Salviati A, Marangi A, Strisciuglio P, Mangone G, Casini A, Ricci S, Fiumara A, Parini R, Pavone FS, Guerrini R, Calamai M, Morrone A. Tonin R, et al. Among authors: salviati a. Sci Rep. 2019 Nov 27;9(1):17684. doi: 10.1038/s41598-019-53995-5. Sci Rep. 2019. PMID: 31776384 Free PMC article.
Inherited neuroaxonal dystrophy in C6 deficient rabbits.
Giannini C, Monaco S, Kirschfink M, Rother KO, Lorbacher de Ruiz H, Nardelli E, Bonetti B, Salviati A, Zanette GP, Rizzuto N. Giannini C, et al. Among authors: salviati a. J Neuropathol Exp Neurol. 1992 Sep;51(5):514-22. doi: 10.1097/00005072-199209000-00006. J Neuropathol Exp Neurol. 1992. PMID: 1517772
55 results