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Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes.
Coratti G, Carmela Pera M, Montes J, Scoto M, Pasternak A, Bovis F, Sframeli M, D'Amico A, Pane M, Albamonte E, Antonaci L, Lia Frongia A, Mizzoni I, Sansone VA, Russo M, Bruno C, Baranello G, Messina S, Dunaway Young S, Glanzman AM, Duong T, de Sanctis R, Stacy Mazzone E, Milev E, Rohwer A, Civitello M, Darras BT, Bertini E, Day J, Muntoni F, De Vivo DC, Finkel RS, Mercuri E. Coratti G, et al. Neuromuscul Disord. 2022 Jan;32(1):36-42. doi: 10.1016/j.nmd.2021.10.009. Epub 2021 Nov 7. Neuromuscul Disord. 2022. PMID: 34980538
Pilot trial of phenylbutyrate in spinal muscular atrophy.
Mercuri E, Bertini E, Messina S, Pelliccioni M, D'Amico A, Colitto F, Mirabella M, Tiziano FD, Vitali T, Angelozzi C, Kinali M, Main M, Brahe C. Mercuri E, et al. Neuromuscul Disord. 2004 Feb;14(2):130-5. doi: 10.1016/j.nmd.2003.11.006. Neuromuscul Disord. 2004. PMID: 14733959 Clinical Trial.
Acute quadriplegic myopathy in a 16-month-old child.
Iodice F, Salzano M, Prosperi M, D' Amico A, Lauri A, Bertini E. Iodice F, et al. Paediatr Anaesth. 2005 Jul;15(7):611-5. doi: 10.1111/j.1460-9592.2005.01491.x. Paediatr Anaesth. 2005. PMID: 15960648
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression.
Pescatori M, Broccolini A, Minetti C, Bertini E, Bruno C, D'amico A, Bernardini C, Mirabella M, Silvestri G, Giglio V, Modoni A, Pedemonte M, Tasca G, Galluzzi G, Mercuri E, Tonali PA, Ricci E. Pescatori M, et al. FASEB J. 2007 Apr;21(4):1210-26. doi: 10.1096/fj.06-7285com. Epub 2007 Jan 30. FASEB J. 2007. PMID: 17264171
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Zhou H, Jungbluth H, Sewry CA, Feng L, Bertini E, Bushby K, Straub V, Roper H, Rose MR, Brockington M, Kinali M, Manzur A, Robb S, Appleton R, Messina S, D'Amico A, Quinlivan R, Swash M, Müller CR, Brown S, Treves S, Muntoni F. Zhou H, et al. Brain. 2007 Aug;130(Pt 8):2024-36. doi: 10.1093/brain/awm096. Epub 2007 May 4. Brain. 2007. PMID: 17483490 Free article.
Clinical and genetic characterization of Chanarin-Dorfman syndrome.
Bruno C, Bertini E, Di Rocco M, Cassandrini D, Ruffa G, De Toni T, Seri M, Spada M, Li Volti G, D'Amico A, Trucco F, Arca M, Casali C, Angelini C, Dimauro S, Minetti C. Bruno C, et al. Biochem Biophys Res Commun. 2008 May 16;369(4):1125-8. doi: 10.1016/j.bbrc.2008.03.010. Epub 2008 Mar 11. Biochem Biophys Res Commun. 2008. PMID: 18339307
1,301 results