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566 results

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Page 1
Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei.
Pegoraro E, Schimke RN, Garcia C, Stern H, Cadaldini M, Angelini C, Barbosa E, Carroll J, Marks WA, Neville HE, Marks H, Appleton S, Toriello H, Wessel HB, Donnelly J, Bernes SM, Taber JW, Weiss L, Hoffman EP. Pegoraro E, et al. Among authors: hoffman ep. Neurology. 1995 Apr;45(4):677-90. doi: 10.1212/wnl.45.4.677. Neurology. 1995. PMID: 7723955
Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.
Pegoraro E, Marks H, Garcia CA, Crawford T, Mancias P, Connolly AM, Fanin M, Martinello F, Trevisan CP, Angelini C, Stella A, Scavina M, Munk RL, Servidei S, Bönnemann CC, Bertorini T, Acsadi G, Thompson CE, Gagnon D, Hoganson G, Carver V, Zimmerman RA, Hoffman EP. Pegoraro E, et al. Among authors: hoffman ep. Neurology. 1998 Jul;51(1):101-10. doi: 10.1212/wnl.51.1.101. Neurology. 1998. PMID: 9674786
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: hoffman ep. Brain. 2002 Nov;125(Pt 11):2392-407. doi: 10.1093/brain/awf246. Brain. 2002. PMID: 12390967
566 results