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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: bruno c. Ann Neurol. 2023 Dec;94(6):1126-1135. doi: 10.1002/ana.26788. Epub 2023 Sep 22. Ann Neurol. 2023. PMID: 37695206 Free article.
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy.
Bello L, Piva L, Barp A, Taglia A, Picillo E, Vasco G, Pane M, Previtali SC, Torrente Y, Gazzerro E, Motta MC, Grieco GS, Napolitano S, Magri F, D'Amico A, Astrea G, Messina S, Sframeli M, Vita GL, Boffi P, Mongini T, Ferlini A, Gualandi F, Soraru' G, Ermani M, Vita G, Battini R, Bertini E, Comi GP, Berardinelli A, Minetti C, Bruno C, Mercuri E, Politano L, Angelini C, Hoffman EP, Pegoraro E. Bello L, et al. Among authors: bruno c. Neurology. 2012 Jul 10;79(2):159-62. doi: 10.1212/WNL.0b013e31825f04ea. Epub 2012 Jun 27. Neurology. 2012. PMID: 22744661 Free PMC article.
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data.
Pane M, Coratti G, Sansone VA, Messina S, Bruno C, Catteruccia M, Sframeli M, Albamonte E, Pedemonte M, D'Amico A, Bravetti C, Berti B, Brigati G, Tacchetti P, Salmin F, de Sanctis R, Lucibello S, Piastra M, Genovese O, Bertini E, Vita G, Tiziano FD, Mercuri E; Italian Expanded Access Program Working Group. Pane M, et al. Among authors: bruno c. Ann Neurol. 2019 Sep;86(3):443-451. doi: 10.1002/ana.25533. Epub 2019 Jul 8. Ann Neurol. 2019. PMID: 31228281
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: bruno c. 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 Variability in Spinal Muscular Atrophy Type III.
Coratti G, Messina S, Lucibello S, Pera MC, Montes J, Pasternak A, Bovis F, Exposito Escudero J, Mazzone ES, Mayhew A, Glanzman AM, Young SD, Salazar R, Duong T, Muni Lofra R, De Sanctis R, Carnicella S, Milev E, Civitello M, Pane M, Scoto M, Bettolo CM, Antonaci L, Frongia A, Sframeli M, Vita GL, D'Amico A, Van Den Hauwe M, Albamonte E, Goemans N, Darras BT, Bertini E, Sansone V, Day J, Nascimento Osorio A, Bruno C, Muntoni F, De Vivo DC, Finkel RS, Mercuri E. Coratti G, et al. Among authors: bruno c. Ann Neurol. 2020 Dec;88(6):1109-1117. doi: 10.1002/ana.25900. Epub 2020 Oct 2. Ann Neurol. 2020. PMID: 32926458
Nusinersen in pediatric and adult patients with type III spinal muscular atrophy.
Pera MC, Coratti G, Bovis F, Pane M, Pasternak A, Montes J, Sansone VA, Dunaway Young S, Duong T, Messina S, Mizzoni I, D'Amico A, Civitello M, Glanzman AM, Bruno C, Salmin F, Morando S, De Sanctis R, Sframeli M, Antonaci L, Frongia AL, Rohwer A, Scoto M, De Vivo DC, Darras BT, Day J, Martens W, Patanella KA, Bertini E, Muntoni F, Finkel R, Mercuri E; iSMAC group. Pera MC, et al. Among authors: bruno c. Ann Clin Transl Neurol. 2021 Aug;8(8):1622-1634. doi: 10.1002/acn3.51411. Epub 2021 Jun 24. Ann Clin Transl Neurol. 2021. PMID: 34165911 Free PMC article.
Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy.
Pane M, Coratti G, Pera MC, Sansone VA, Messina S, d'Amico A, Bruno C, Salmin F, Albamonte E, De Sanctis R, Sframeli M, Di Bella V, Morando S, Palermo C, Frongia AL, Antonaci L, Capasso A, Catteruccia M, Longo A, Ricci M, Cutrona C, Pirola A, Bravetti C, Pedemonte M, Brolatti N, Bertini E, Mercuri E; Italian ISMAC group. Pane M, et al. Among authors: bruno c. Ann Clin Transl Neurol. 2022 Mar;9(3):404-409. doi: 10.1002/acn3.51514. Epub 2022 Feb 15. Ann Clin Transl Neurol. 2022. PMID: 35166467 Free PMC article.
Genetic modifiers of upper limb function in Duchenne muscular dystrophy.
Sabbatini D, Fusto A, Vianello S, Villa M, Janik J, D'Angelo G, Diella E, Magri F, Comi GP, Panicucci C, Bruno C, D'Amico A, Bertini E, Astrea G, Battini R, Politano L, Masson R, Baranello G, Previtali SC, Messina S, Vita G, Berardinelli A, Mongini T, Pini A, Pane M, Mercuri E, Hoffman EP, Morgenroth L, Gordish-Dressman H, Duong T, McDonald CM, Bello L, Pegoraro E. Sabbatini D, et al. Among authors: bruno c. J Neurol. 2022 Sep;269(9):4884-4894. doi: 10.1007/s00415-022-11133-8. Epub 2022 May 5. J Neurol. 2022. PMID: 35513612 Free PMC article.
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey.
Coratti G, Ricci M, Capasso A, D'amico A, Sansone V, Bruno C, Messina S, Ricci F, Mongini T, Coccia M, Siciliano G, Pegoraro E, Turri M, Filosto M, Comi G, Masson R, Maggi L, Bruno I, D'Angelo MG, Trabacca A, Vacchiano V, Donati M, Simone I, Ruggiero L, Varone A, Verriello L, Berardinelli A, Agosto C, Pini A, Maioli MA, Passamano L, Brighina F, Carboni N, Garibaldi M, Zuccarino R, Gagliardi D, Siliquini S, Previtali S, Taruscio D, Boccia S, Pera MC, Pane M, Mercuri E; ITASMAC working group. Coratti G, et al. Among authors: bruno i, bruno c. Neurology. 2023 Mar 14;100(11):522-528. doi: 10.1212/WNL.0000000000201654. Epub 2022 Dec 2. Neurology. 2023. PMID: 36460469 Free PMC article.
Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar function.
Pane M, Coratti G, Sansone VA, Messina S, Catteruccia M, Bruno C, Sframeli M, Albamonte E, Pedemonte M, Brolatti N, Mizzoni I, D'Amico A, Bravetti C, Berti B, Palermo C, Leone D, Salmin F, De Sanctis R, Pera MC, Piastra M, Genovese O, Ricci F, Cavallina I, Masson R, Zanin R, Agosto C, Salomon E, Bruno I, Magnolato A, Bertini E, Tiziano FD, Bovis F, Mercuri E; Italian EAP Working Group. Pane M, et al. Among authors: bruno i, bruno c. Eur J Neurol. 2023 Jun;30(6):1755-1763. doi: 10.1111/ene.15768. Epub 2023 Apr 3. Eur J Neurol. 2023. PMID: 36880698
1,004 results