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226 results

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Page 1
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: masson r. Ann Neurol. 2023 Dec;94(6):1126-1135. doi: 10.1002/ana.26788. Epub 2023 Sep 22. Ann Neurol. 2023. PMID: 37695206 Free article.
Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients.
Bonanno S, Marcuzzo S, Malacarne C, Giagnorio E, Masson R, Zanin R, Arnoldi MT, Andreetta F, Simoncini O, Venerando A, Gellera C, Pantaleoni C, Mantegazza R, Bernasconi P, Baranello G, Maggi L. Bonanno S, et al. Among authors: masson r. Biomedicines. 2020 Jan 26;8(2):21. doi: 10.3390/biomedicines8020021. Biomedicines. 2020. PMID: 31991852 Free PMC article.
Predictive energy equations for spinal muscular atrophy type I children.
Bertoli S, De Amicis R, Bedogni G, Foppiani A, Leone A, Ravella S, Mastella C, Baranello G, Masson R, Bertini E, D'Amico A, Pedemonte M, Bruno C, Agosto C, Giaquinto E, Bassano M, Battezzati A. Bertoli S, et al. Among authors: masson r. Am J Clin Nutr. 2020 May 1;111(5):983-996. doi: 10.1093/ajcn/nqaa009. Am J Clin Nutr. 2020. PMID: 32145012 Free article.
Genetic modifiers of respiratory function in Duchenne muscular dystrophy.
Bello L, D'Angelo G, Villa M, Fusto A, Vianello S, Merlo B, Sabbatini D, Barp A, Gandossini S, Magri F, Comi GP, Pedemonte M, Tacchetti P, Lanzillotta V, Trucco F, D'Amico A, Bertini E, Astrea G, Politano L, Masson R, Baranello G, Albamonte E, De Mattia E, Rao F, Sansone VA, Previtali S, Messina S, Vita GL, Berardinelli A, Mongini T, Pini A, Pane M, Mercuri E, Vianello A, Bruno C, Hoffman EP, Morgenroth L, Gordish-Dressman H, McDonald CM; CINRG-DNHS Investigators; Pegoraro E. Bello L, et al. Among authors: masson r. Ann Clin Transl Neurol. 2020 May;7(5):786-798. doi: 10.1002/acn3.51046. Epub 2020 Apr 28. Ann Clin Transl Neurol. 2020. PMID: 32343055 Free PMC article.
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.
Maggi L, Brugnoni R, Canioni E, Tonin P, Saletti V, Sola P, Piccinelli SC, Colleoni L, Ferrigno P, Pini A, Masson R, Manganelli F, Lietti D, Vercelli L, Ricci G, Bruno C, Tasca G, Pizzuti A, Padovani A, Fusco C, Pegoraro E, Ruggiero L, Ravaglia S, Siciliano G, Morandi L, Dubbioso R, Mongini T, Filosto M, Tramacere I, Mantegazza R, Bernasconi P. Maggi L, et al. Among authors: masson r. Front Neurol. 2020 Jul 29;11:646. doi: 10.3389/fneur.2020.00646. eCollection 2020. Front Neurol. 2020. PMID: 32849172 Free PMC article.
Risdiplam in Type 1 Spinal Muscular Atrophy.
Baranello G, Darras BT, Day JW, Deconinck N, Klein A, Masson R, Mercuri E, Rose K, El-Khairi M, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Seabrook T, Fontoura P, Servais L; FIREFISH Working Group. Baranello G, et al. Among authors: masson r. N Engl J Med. 2021 Mar 11;384(10):915-923. doi: 10.1056/NEJMoa2009965. Epub 2021 Feb 24. N Engl J Med. 2021. PMID: 33626251 Clinical Trial.
Predictive fat mass equations for spinal muscular atrophy type I children: Development and internal validation.
Foppiani A, De Amicis R, Leone A, Ravella S, Bedogni G, Battezzati A, D'Amico A, Bertini E, Pedemonte M, Bruno C, Agosto C, Mastella C, Giaquinto E, Masson R, Baranello G, Bertoli S. Foppiani A, et al. Among authors: masson r. Clin Nutr. 2021 Apr;40(4):1578-1587. doi: 10.1016/j.clnu.2021.02.026. Epub 2021 Feb 26. Clin Nutr. 2021. PMID: 33744602 Free article.
Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients.
Malacarne C, Galbiati M, Giagnorio E, Cavalcante P, Salerno F, Andreetta F, Cagnoli C, Taiana M, Nizzardo M, Corti S, Pensato V, Venerando A, Gellera C, Fenu S, Pareyson D, Masson R, Maggi L, Dalla Bella E, Lauria G, Mantegazza R, Bernasconi P, Poletti A, Bonanno S, Marcuzzo S. Malacarne C, et al. Among authors: masson r. Int J Mol Sci. 2021 May 26;22(11):5673. doi: 10.3390/ijms22115673. Int J Mol Sci. 2021. PMID: 34073630 Free PMC article.
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls.
Darras BT, Masson R, Mazurkiewicz-Bełdzińska M, Rose K, Xiong H, Zanoteli E, Baranello G, Bruno C, Vlodavets D, Wang Y, El-Khairi M, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Fontoura P, Servais L; FIREFISH Working Group. Darras BT, et al. Among authors: masson r. N Engl J Med. 2021 Jul 29;385(5):427-435. doi: 10.1056/NEJMoa2102047. N Engl J Med. 2021. PMID: 34320287
226 results