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Genetic modifiers of respiratory function in Duchenne muscular dystrophy.
Bello L, D'Angelo G, Villa M, Fusto A, Vianello S, Merlo B, Sabbatini D, Barp A, Gandossini S, Magri F, Comi GP, Pedemonte M, Tacchetti P, Lanzillotta V, Trucco F, D'Amico A, Bertini E, Astrea G, Politano L, Masson R, Baranello G, Albamonte E, De Mattia E, Rao F, Sansone VA, Previtali S, Messina S, Vita GL, Berardinelli A, Mongini T, Pini A, Pane M, Mercuri E, Vianello A, Bruno C, Hoffman EP, Morgenroth L, Gordish-Dressman H, McDonald CM; CINRG-DNHS Investigators; Pegoraro E. Bello L, et al. Among authors: mongini t. Ann Clin Transl Neurol. 2020 May;7(5):786-798. doi: 10.1002/acn3.51046. Epub 2020 Apr 28. Ann Clin Transl Neurol. 2020. PMID: 32343055 Free PMC article.
Variable histological expression of dystrophinopathy in two females.
Doriguzzi C, Palmucci L, Mongini T, Chiadò-Piat L, Saggiorato C, Ugo I, Hoffman EP. Doriguzzi C, et al. Among authors: mongini t. Acta Neuropathol. 1999 Jun;97(6):657-60. doi: 10.1007/s004010051043. Acta Neuropathol. 1999. PMID: 10378386
Novel CLCN1 mutations with unique clinical and electrophysiological consequences.
Wu FF, Ryan A, Devaney J, Warnstedt M, Korade-Mirnics Z, Poser B, Escriva MJ, Pegoraro E, Yee AS, Felice KJ, Giuliani MJ, Mayer RF, Mongini T, Palmucci L, Marino M, Rüdel R, Hoffman EP, Fahlke C. Wu FF, et al. Among authors: mongini t. Brain. 2002 Nov;125(Pt 11):2392-407. doi: 10.1093/brain/awf246. Brain. 2002. PMID: 12390967
242 results