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Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
Benedetti S, Menditto I, Degano M, Rodolico C, Merlini L, D'Amico A, Palmucci L, Berardinelli A, Pegoraro E, Trevisan CP, Morandi L, Moroni I, Galluzzi G, Bertini E, Toscano A, Olivè M, Bonne G, Mari F, Caldara R, Fazio R, Mammì I, Carrera P, Toniolo D, Comi G, Quattrini A, Ferrari M, Previtali SC. Benedetti S, et al. Among authors: pegoraro e. Neurology. 2007 Sep 18;69(12):1285-92. doi: 10.1212/01.wnl.0000261254.87181.80. Epub 2007 Mar 21. Neurology. 2007. PMID: 17377071
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. Neurology. 1998 Jul;51(1):101-10. doi: 10.1212/wnl.51.1.101. Neurology. 1998. PMID: 9674786
Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology.
Pegoraro E, Cepollaro F, Prandini P, Marin A, Fanin M, Trevisan CP, El-Messlemani AH, Tarone G, Engvall E, Hoffman EP, Angelini C. Pegoraro E, et al. Am J Pathol. 2002 Jun;160(6):2135-43. doi: 10.1016/s0002-9440(10)61162-5. Am J Pathol. 2002. PMID: 12057917 Free PMC article.
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: pegoraro e. Brain. 2002 Nov;125(Pt 11):2392-407. doi: 10.1093/brain/awf246. Brain. 2002. PMID: 12390967
Cerebellar ataxia and coenzyme Q10 deficiency.
Lamperti C, Naini A, Hirano M, De Vivo DC, Bertini E, Servidei S, Valeriani M, Lynch D, Banwell B, Berg M, Dubrovsky T, Chiriboga C, Angelini C, Pegoraro E, DiMauro S. Lamperti C, et al. Among authors: pegoraro e. Neurology. 2003 Apr 8;60(7):1206-8. doi: 10.1212/01.wnl.0000055089.39373.fc. Neurology. 2003. PMID: 12682339
338 results