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Page 1
Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016.
Pera MC, Coratti G, Pane M, Masson R, Sansone VA, D'Amico A, Catteruccia M, Agosto C, Varone A, Bruno C, Messina S, Ricci F, Bruno I, Procopio E, Pini A, Siliquini S, Zanin R, Albamonte E, Berardinelli A, Mastella C, Baranello G, Previtali SC, Trabacca A, Bravetti C, Gagliardi D, Filosto M, de Sanctis R, Finkel R, Mercuri E; Italian SMA type I Study Group. Pera MC, et al. EClinicalMedicine. 2024 Nov 30;78:102967. doi: 10.1016/j.eclinm.2024.102967. eCollection 2024 Dec. EClinicalMedicine. 2024. PMID: 39687428 Free PMC article.
Long-term natural history in type II and III spinal muscular atrophy: a 4-year international study on the Hammersmith Functional Motor Scale Expanded.
Coratti G, Bovis F, Pera MC, Civitello M, Rohwer A, Salmin F, Glanzman AM, Montes J, Pasternak A, De Sanctis R, Dunaway Young S, Duong T, Mizzoni I, Milev E, Sframeli M, Morando S, Albamonte E, D'Amico A, Catteruccia M, Brolatti N, Pane M, Scoto M, Messina S, Escudero JE, De Waele L, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Nascimiento Osorio A, Bruno C, Goemans N, Sansone VA, Day J, Baranello G, Muntoni F, Finkel R, Mercuri E; ISMAC/international SMA consortium. Coratti G, et al. Among authors: brolatti n. Eur J Neurol. 2024 Dec;31(12):e16517. doi: 10.1111/ene.16517. Epub 2024 Oct 11. Eur J Neurol. 2024. PMID: 39392101 Free PMC article.
Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module.
Coratti G, Civitello M, Rohwer A, Albamonte E, Montes J, Glanzman AM, Pasternak A, De Sanctis R, Young SD, Duong T, Mizzoni I, Milev E, Sframeli M, Morando S, D'Amico A, Catteruccia M, Brolatti N, Pane M, Scoto M, Messina S, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Bruno C, Sansone VA, Salmin F, Day J, Baranello G, Pera MC, Muntoni F, Finkel RS, Mercuri E; International SMA Consortium (iSMAc). Coratti G, et al. Among authors: brolatti n. Neuromuscul Disord. 2024 Nov;44:104449. doi: 10.1016/j.nmd.2024.08.006. Epub 2024 Aug 28. Neuromuscul Disord. 2024. PMID: 39299818 Free article.
Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophy.
Panicucci C, Sahin E, Bartolucci M, Casalini S, Brolatti N, Pedemonte M, Baratto S, Pintus S, Principi E, D'Amico A, Pane M, Sframeli M, Messina S, Albamonte E, Sansone VA, Mercuri E, Bertini E, Sezerman U, Petretto A, Bruno C. Panicucci C, et al. Among authors: brolatti n. Cell Mol Life Sci. 2024 Sep 10;81(1):393. doi: 10.1007/s00018-024-05426-6. Cell Mol Life Sci. 2024. PMID: 39254732 Free PMC article.
Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.
Chelleri C, Brolatti N, De Marco P, Ognibene M, Diana MC, Madia F, Duca MD, Santangelo A, Capra V, Striano P, Zara F, Scala M. Chelleri C, et al. Among authors: brolatti n. Am J Med Genet A. 2024 Dec;194(12):e63824. doi: 10.1002/ajmg.a.63824. Epub 2024 Jul 19. Am J Med Genet A. 2024. PMID: 39031930
Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA.
Coratti G, Civitello M, Rohwer A, Salmin F, Glanzman AM, Montes J, Pasternak A, De Sanctis R, Young SD, Duong T, Mizzoni I, Milev E, Sframeli M, Morando S, Albamonte E, D'Amico A, Brolatti N, Pane M, Scoto M, Messina S, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Bruno C, Sansone VA, Day J, Baranello G, Pera MC, Muntoni F, Finkel R, Mercuri E. Coratti G, et al. Among authors: brolatti n. Neuromuscul Disord. 2024 Aug;41:42-50. doi: 10.1016/j.nmd.2024.05.003. Epub 2024 May 9. Neuromuscul Disord. 2024. PMID: 38936290
Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study.
Coratti G, Bovis F, Pera MC, Scoto M, Montes J, Pasternak A, Mayhew A, Muni-Lofra R, Duong T, Rohwer A, Dunaway Young S, Civitello M, Salmin F, Mizzoni I, Morando S, Pane M, Albamonte E, D'Amico A, Brolatti N, Sframeli M, Marini-Bettolo C, Sansone VA, Bruno C, Messina S, Bertini E, Baranello G, Day J, Darras BT, De Vivo DC, Hirano M, Muntoni F, Finkel R, Mercuri E; ISMAC group. Coratti G, et al. Among authors: brolatti n. Eur J Neurol. 2024 Aug;31(8):e16309. doi: 10.1111/ene.16309. Epub 2024 Apr 24. Eur J Neurol. 2024. PMID: 38656662 Free PMC article.
Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort study.
Buchignani B, Cicala G, Cumbo F, Ricci M, Capasso A, Ticci C, Mazzanti S, Brolatti N, Tosi M, Dosi C, Antonaci L, Coratti G, Pera MC, Leone D, Palermo C, Berti B, Frongia AL, Sacchini M, Bruno C, Masson R, D'Amico A, Battini R, Pane M, Mercuri E. Buchignani B, et al. Among authors: brolatti n. Arch Dis Child. 2024 Apr 18;109(5):395-401. doi: 10.1136/archdischild-2023-326613. Arch Dis Child. 2024. PMID: 38290776
35 results