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254 results

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Page 1
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening.
Pane M, Donati MA, Cutrona C, De Sanctis R, Pirinu M, Coratti G, Ricci M, Palermo C, Berti B, Leone D, Ticci C, Sacchini M, Cerboneschi M, Capasso A, Cicala G, Pera MC, Bravetti C, Abiusi E, Vaisfeld A, Vento G, Tiziano FD, Mercuri E. Pane M, et al. Among authors: leone d. Eur J Pediatr. 2022 Jul;181(7):2821-2829. doi: 10.1007/s00431-022-04470-3. Epub 2022 May 6. Eur J Pediatr. 2022. PMID: 35522315 Free PMC article.
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen.
Sansone VA, Coratti G, Pera MC, Pane M, Messina S, Salmin F, Albamonte E, De Sanctis R, Sframeli M, Di Bella V, Morando S, d'Amico A, Frongia AL, Antonaci L, Pirola A, Pedemonte M, Bertini E, Bruno C, Mercuri E; Italian ISMAC group. Sansone VA, et al. Eur J Neurol. 2021 Feb;28(2):602-608. doi: 10.1111/ene.14567. Epub 2020 Oct 31. Eur J Neurol. 2021. PMID: 33012052 Free article.
Ultrasound assessment of diaphragmatic function in type 1 spinal muscular atrophy.
Buonsenso D, Berti B, Palermo C, Leone D, Ferrantini G, De Sanctis R, Onesimo R, Curatola A, Fanelli L, Forcina N, Norcia G, Carnicella S, Lucibello S, Mercuri E, Pane M. Buonsenso D, et al. Among authors: leone d. Pediatr Pulmonol. 2020 Jul;55(7):1781-1788. doi: 10.1002/ppul.24814. Epub 2020 May 11. Pediatr Pulmonol. 2020. PMID: 32394611
Type I SMA "new natural history": long-term data in nusinersen-treated patients.
Pane M, Coratti G, Sansone VA, Messina S, Catteruccia M, Bruno C, Sframeli M, Albamonte E, Pedemonte M, D'Amico A, Bravetti C, Berti B, Palermo C, Leone D, Brigati G, Tacchetti P, Salmin F, De Sanctis R, Lucibello S, Pera MC, Piastra M, Genovese O, Bertini E, Vita G, Tiziano FD, Mercuri E; Italian EAP Working Group. Pane M, et al. Among authors: leone d, d amico a. Ann Clin Transl Neurol. 2021 Mar;8(3):548-557. doi: 10.1002/acn3.51276. Epub 2021 Feb 6. Ann Clin Transl Neurol. 2021. PMID: 33547876 Free PMC article.
Oral and Swallowing Abilities Tool (OrSAT) in nusinersen treated patients.
Berti B, Fanelli L, Stanca G, Onesimo R, Palermo C, Leone D, de Sanctis R, Carnicella S, Norcia G, Forcina N, Coratti G, Pera MC, Giorgio V, Ausili Cefaro C, Finkel R, Pane M, Mercuri E. Berti B, et al. Among authors: leone d. Arch Dis Child. 2022 May 16:archdischild-2022-323899. doi: 10.1136/archdischild-2022-323899. Online ahead of print. Arch Dis Child. 2022. PMID: 35577540
Hypoglycaemia in patients with type 1 SMA: an underdiagnosed problem?
Berti B, Onesimo R, Leone D, Palermo C, Giorgio V, Buonsenso D, Pane M, Mercuri E. Berti B, et al. Among authors: leone d. Arch Dis Child. 2020 Jul;105(7):707. doi: 10.1136/archdischild-2019-318120. Epub 2019 Dec 20. Arch Dis Child. 2020. PMID: 31862697 No abstract available.
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.
254 results