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Spinal Muscular Atrophy Functional Composite Score Revised (SMA-FCR) in Untreated and Nusinersen-Treated Patient Cohorts.
Pasternak A, McDermott MP, Montes J, Glanzman AM, Coratti G, Dunaway Young S, Duong TT, Martens WB, Day JW, Zolkipli-Cunningham Z, Sansone VA, D'Amico A, Messina S, Bruno C, Mercuri E, De Vivo DC, Darras BT; as the Pediatric Neuromuscular Clinical Research (PNCR) Network and the International SMA Consortium (iSMAc). Pasternak A, et al. Among authors: d amico a. Neurology. 2025 Jul 22;105(2):e213839. doi: 10.1212/WNL.0000000000213839. Epub 2025 Jun 27. Neurology. 2025. PMID: 40577678
Longitudinal Assessment of 4-Year HFMSE Changes in SMA II and III Patients Treated With Nusinersen.
Coratti G, Bovis F, Pane M, Pasternak A, Albamonte E, Mizzoni I, Glanzman AM, Morando S, Montes J, Cavallina I, Dunaway Young S, Duong T, Rolle E, Civitello M, De Sanctis R, Bravetti C, Ricci F, Gadaleta G, Mongini T, Sframeli M, Pera MC, Messina S, D'Amico A, Catteruccia M, Brolatti N, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Bruno C, Day J, Sansone VA, Finkel RS, Mercuri E; iSMAC/international SMA consortium. Coratti G, et al. Among authors: d amico a. Eur J Neurol. 2025 Jul;32(7):e70268. doi: 10.1111/ene.70268. Eur J Neurol. 2025. PMID: 40576143 Free PMC article.
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.
Ross JE, Flowers M, McNulty S, Patel M, Yang H, Palus B, Abdelmoneim Elnagheeb M, Eng L, Owens E, Beggs AH, Bertini E, D'Amico A, Donkervoort S, Dowling J, Fattori F, Ferreiro A, Genetti CA, Gonorazky H, Lek M, Lindy A, Medne L, Muntoni F, Pajusalu S, Pelin K, Rendu J, Sarkozy A, Vatta M, Winder T, Yoon G, Bönnemann CG, Ceyhan-Birsoy O. Ross JE, et al. Among authors: d amico a. J Neuromuscul Dis. 2025 Jun 10:22143602251339369. doi: 10.1177/22143602251339369. Online ahead of print. J Neuromuscul Dis. 2025. PMID: 40491337 Free article.
Italian validation of the SMA independence scale-upper limb module.
Bravetti C, Coratti G, Pera MC, Gadaleta G, Mongini T, Coccia M, Ferrero A, Costantini EM, Longo A, Cumbo F, Catteruccia M, D'Amico A, Morando S, Brolatti N, Bruno C, Verriello L, Pessa ME, Antonaci L, Faini C, Liguori R, Vacchiano V, Ruggiero L, Zoppi D, Russo A, Torri F, Ricci G, Chiappini R, Siciliano G, Trabacca A, Agosto C, Benedetti F, Pane M, Mercuri E; ITASMAC working group. Bravetti C, et al. Among authors: d amico a. Eur J Pediatr. 2025 Jun 10;184(7):410. doi: 10.1007/s00431-025-06207-4. Eur J Pediatr. 2025. PMID: 40490594 Free PMC article.
1,398 results