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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. Among authors: bruno c. N Engl J Med. 2021 Jul 29;385(5):427-435. doi: 10.1056/NEJMoa2102047. N Engl J Med. 2021. PMID: 34320287
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).
Pinós T, Andreu AL, Bruno C, Hadjigeorgiou GM, Haller RG, Laforêt P, Lucía A, Martín MA, Martinuzzi A, Navarro C, Oflazer P, Pouget J, Quinlivan R, Sacconi S, Scalco RS, Toscano A, Vissing J, Vorgerd M, Wakelin A, Martí R; EUROMAC Consortium. Pinós T, et al. Among authors: bruno c. Orphanet J Rare Dis. 2020 Oct 15;15(1):187. doi: 10.1186/s13023-020-01455-z. Orphanet J Rare Dis. 2020. PMID: 33054807 Free PMC article.
Unclassified polysaccharidosis of the heart and skeletal muscle in siblings.
Schoser B, Bruno C, Schneider HC, Shin YS, Podskarbi T, Goldfarb L, Müller-Felber W, Müller-Höcker J. Schoser B, et al. Among authors: bruno c. Mol Genet Metab. 2008 Sep-Oct;95(1-2):52-8. doi: 10.1016/j.ymgme.2008.07.005. Epub 2008 Aug 8. Mol Genet Metab. 2008. PMID: 18691923 Free PMC article.
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: bruno c. 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: bruno c. Eur J Neurol. 2025 Jul;32(7):e70268. doi: 10.1111/ene.70268. Eur J Neurol. 2025. PMID: 40576143 Free PMC 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: bruno c. 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.
Evaluation of PD-L1, TERT promoter mutations, and BRAFV600E mutation in poorly differentiated, differentiated high grade thyroid carcinoma and anaplastic carcinoma of the thyroid: our institutional experience.
Piermattei A, Migliara G, Feraco A, Bruno C, Cioni L, Zhang Q, Padial-Urtueta B, Merenda E, Fadda G, Raffaelli M, Larocca LM, Mule A, Pontecorvi A, Rossi ED. Piermattei A, et al. Among authors: bruno c. Virchows Arch. 2025 Jun 7. doi: 10.1007/s00428-025-04134-1. Online ahead of print. Virchows Arch. 2025. PMID: 40481961
1,059 results