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29 results

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Page 1
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. 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.
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study.
Chiriboga CA, Bruno C, Duong T, Fischer D, Mercuri E, Kirschner J, Kostera-Pruszczyk A, Jaber B, Gorni K, Kletzl H, Carruthers I, Martin C, Warren F, Scalco RS, Wagner KR, Muntoni F; JEWELFISH Study Group. Chiriboga CA, et al. Neurol Ther. 2023 Apr;12(2):543-557. doi: 10.1007/s40120-023-00444-1. Epub 2023 Feb 13. Neurol Ther. 2023. PMID: 36780114 Free PMC article.
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial.
Masson R, Mazurkiewicz-Bełdzińska M, Rose K, Servais L, Xiong H, Zanoteli E, Baranello G, Bruno C, Day JW, Deconinck N, Klein A, Mercuri E, Vlodavets D, Wang Y, Dodman A, El-Khairi M, Gorni K, Jaber B, Kletzl H, Gaki E, Fontoura P, Darras BT; FIREFISH Study Group. Masson R, et al. Lancet Neurol. 2022 Dec;21(12):1110-1119. doi: 10.1016/S1474-4422(22)00339-8. Epub 2022 Oct 14. Lancet Neurol. 2022. PMID: 36244364 Clinical Trial.
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. N Engl J Med. 2021 Jul 29;385(5):427-435. doi: 10.1056/NEJMoa2102047. N Engl J Med. 2021. PMID: 34320287
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies.
Pane M, Berti B, Capasso A, Coratti G, Varone A, D'Amico A, Messina S, Masson R, Sansone VA, Donati MA, Agosto C, Bruno C, Ricci F, Pini A, Gagliardi D, Filosto M, Corti S, Leone D, Palermo C, Onesimo R, De Sanctis R, Ricci M, Bitetti I, Sframeli M, Dosi C, Albamonte E, Ticci C, Brolatti N, Bertini E, Finkel R, Mercuri E; ITASMAc group. Pane M, et al. Among authors: brolatti n. EClinicalMedicine. 2023 May 5;59:101997. doi: 10.1016/j.eclinm.2023.101997. eCollection 2023 May. EClinicalMedicine. 2023. PMID: 37197706 Free PMC article.
Early treatment of type II SMA slows rate of progression of scoliosis.
Coratti G, Lenkowicz J, Pera MC, D'Amico A, Bruno C, Gullì C, Brolatti N, Pedemonte M, Antonaci L, Ricci M, Capasso A, Cicala G, Cutrona C, de Sanctis R, Carnicella S, Forcina N, Cateruccia M, Damasio MB, Labianca L, Manfroni F, Leone A, Bertini E, Pane M, Patarnello S, Valentini V, Mercuri E. Coratti G, et al. Among authors: brolatti n. J Neurol Neurosurg Psychiatry. 2024 Feb 14;95(3):235-240. doi: 10.1136/jnnp-2023-332084. J Neurol Neurosurg Psychiatry. 2024. PMID: 37739783
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: brolatti n. Eur J Neurol. 2023 Jun;30(6):1755-1763. doi: 10.1111/ene.15768. Epub 2023 Apr 3. Eur J Neurol. 2023. PMID: 36880698
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. Ann Neurol. 2023 Dec;94(6):1126-1135. doi: 10.1002/ana.26788. Epub 2023 Sep 22. Ann Neurol. 2023. PMID: 37695206 Free article.
Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1.
Panicucci C, Casalini S, Traverso M, Brolatti N, Baratto S, Raffaghello L, Pedemonte M, Doglio L, Derchi M, Tasca G, Damasio BM, Fiorillo C, Bruno C. Panicucci C, et al. Among authors: brolatti n. Neuropediatrics. 2023 Dec;54(6):426-429. doi: 10.1055/s-0043-1768989. Epub 2023 May 31. Neuropediatrics. 2023. PMID: 37257496 Free article. Review.
Pediatric SARS-CoV-2-Related Diplopia and Mesencephalic Abnormalities.
Signa S, Brolatti N, Trincianti C, Tortora D, Saffioti C, Di Marco E, Acquila M, Amadori E, Fiorillo C, Ricci E, Striano P, Castagnola E, Vari MS. Signa S, et al. Among authors: brolatti n. Neurol Clin Pract. 2022 Oct;12(5):e124-e128. doi: 10.1212/CPJ.0000000000200076. Neurol Clin Pract. 2022. PMID: 36380889 Free PMC article.
29 results