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The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy.
Brogna C, Coratti G, Rossi R, Neri M, Messina S, Amico A, Bruno C, Lucibello S, Vita G, Berardinelli A, Magri F, Ricci F, Pedemonte M, Mongini T, Battini R, Bello L, Pegoraro E, Baranello G, Politano L, Comi GP, Sansone VA, Albamonte E, Donati A, Bertini E, Goemans N, Previtali S, Bovis F, Pane M, Ferlini A, Mercuri E; on behalf on the International DMD group. Brogna C, et al. Among authors: bruno c. Neuromuscul Disord. 2021 Jun;31(6):479-488. doi: 10.1016/j.nmd.2021.02.015. Epub 2021 Feb 21. Neuromuscul Disord. 2021. PMID: 33773883
Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment.
Assereto S, Stringara S, Sotgia F, Bonuccelli G, Broccolini A, Pedemonte M, Traverso M, Biancheri R, Zara F, Bruno C, Lisanti MP, Minetti C. Assereto S, et al. Among authors: bruno c. Am J Physiol Cell Physiol. 2006 Feb;290(2):C577-82. doi: 10.1152/ajpcell.00434.2005. Epub 2005 Sep 28. Am J Physiol Cell Physiol. 2006. PMID: 16192300 Free article.
Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study.
Mercuri E, Messina S, Battini R, Berardinelli A, Boffi P, Bono R, Bruno C, Carboni N, Cini C, Colitto F, D'Amico A, Minetti C, Mirabella M, Mongini T, Morandi L, Dlamini N, Orcesi S, Pelliccioni M, Pane M, Pini A, Swan AV, Villanova M, Vita G, Main M, Muntoni F, Bertini E. Mercuri E, et al. Among authors: bruno c. Neuromuscul Disord. 2006 Feb;16(2):93-8. doi: 10.1016/j.nmd.2005.11.010. Epub 2006 Jan 20. Neuromuscul Disord. 2006. PMID: 16427782
Expanding the clinical spectrum of POMT1 phenotype.
D'Amico A, Tessa A, Bruno C, Petrini S, Biancheri R, Pane M, Pedemonte M, Ricci E, Falace A, Rossi A, Mercuri E, Santorelli FM, Bertini E. D'Amico A, et al. Among authors: bruno c. Neurology. 2006 May 23;66(10):1564-7; discussion 1461. doi: 10.1212/01.wnl.0000216145.66476.36. Neurology. 2006. PMID: 16717220
1,008 results