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Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Ricci M, Cicala G, Capasso A, Coratti G, Fiori S, Cutrona C, D'Amico A, Sansone VA, Bruno C, Messina S, Mongini T, Coccia M, Siciliano G, Pegoraro E, Masson R, Filosto M, Comi GP, Corti S, Ronchi D, Maggi L, D'Angelo MG, Vacchiano V, Ticci C, Ruggiero L, Verriello L, Ricci FS, Berardinelli AL, Maioli MA, Garibaldi M, Nigro V, Previtali SC, Pera MC, Tizzano E, Pane M, Tiziano FD, Mercuri E; ITASMAC Working Group. Ricci M, et al. Among authors: berardinelli al. Ann Neurol. 2023 Dec;94(6):1126-1135. doi: 10.1002/ana.26788. Epub 2023 Sep 22. Ann Neurol. 2023. PMID: 37695206 Free article.
An integrated approach in a case of facioscapulohumeral dystrophy.
Pasotti S, Magnani B, Longa E, Giovanetti G, Rossi A, Berardinelli A, Tupler R, D'Antona G. Pasotti S, et al. BMC Musculoskelet Disord. 2014 May 15;15:155. doi: 10.1186/1471-2474-15-155. BMC Musculoskelet Disord. 2014. PMID: 24886582 Free PMC article.
Heart involvement in muscular dystrophies due to sarcoglycan gene mutations.
Melacini P, Fanin M, Duggan DJ, Freda MP, Berardinelli A, Danieli GA, Barchitta A, Hoffman EP, Dalla Volta S, Angelini C. Melacini P, et al. Muscle Nerve. 1999 Apr;22(4):473-9. doi: 10.1002/(sici)1097-4598(199904)22:4<473::aid-mus8>3.0.co;2-5. Muscle Nerve. 1999. PMID: 10204782
Response to carbamazepine of recessive-type myotonia congenita.
Berardinelli A, Gorni K, Orcesi S. Berardinelli A, et al. Muscle Nerve. 2000 Jan;23(1):138-9. doi: 10.1002/(sici)1097-4598(200001)23:1<138::aid-mus23>3.0.co;2-4. Muscle Nerve. 2000. PMID: 10590422 No abstract available.
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. 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
137 results