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Page 1
The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy.
Bello L, Sabbatini D, Fusto A, Gorgoglione D, Borin GU, Penzo M, Riguzzi P, Villa M, Vianello S, Calore C, Melacini P, Vio R, Barp A, D'Angelo G, Gandossini S, Politano L, Berardinelli A, Messina S, Vita GL, Pedemonte M, Bruno C, Albamonte E, Sansone V, Baranello G, Masson R, Astrea G, D'Amico A, Bertini E, Pane M, Lucibello S, Mercuri E, Spurney C, Clemens P, Morgenroth L, Gordish-Dressman H, McDonald CM, Hoffman EP; CINRG-DNHS Investigators; Pegoraro E. Bello L, et al. Among authors: mercuri e. J Neuromuscul Dis. 2024;11(2):285-297. doi: 10.3233/JND-230129. J Neuromuscul Dis. 2024. PMID: 38363615 Free PMC article.
Congenital myopathies: clinical phenotypes and new diagnostic tools.
Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies. Cassandrini D, et al. Ital J Pediatr. 2017 Nov 15;43(1):101. doi: 10.1186/s13052-017-0419-z. Ital J Pediatr. 2017. PMID: 29141652 Free PMC article. Review.
Long term follow-up of scoliosis progression in type II SMA patients.
Coratti G, Pera MC, D'Amico A, Bruno C, Bovis F, Gullì C, Brolatti N, Pedemonte M, Apicella M, Antonaci L, Ricci M, Capasso A, Cicala G, Cutrona C, de Sanctis R, Carnicella S, Forcina N, Catteruccia M, Damasio MB, Labianca L, Leone A, Bertini E, Pane M, Mercuri E. Coratti G, et al. Among authors: mercuri e. Neuromuscul Disord. 2022 Dec;32(11-12):879-885. doi: 10.1016/j.nmd.2022.11.004. Epub 2022 Nov 17. Neuromuscul Disord. 2022. PMID: 36456406
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey.
Coratti G, Ricci M, Capasso A, D'amico A, Sansone V, Bruno C, Messina S, Ricci F, Mongini T, Coccia M, Siciliano G, Pegoraro E, Turri M, Filosto M, Comi G, Masson R, Maggi L, Bruno I, D'Angelo MG, Trabacca A, Vacchiano V, Donati M, Simone I, Ruggiero L, Varone A, Verriello L, Berardinelli A, Agosto C, Pini A, Maioli MA, Passamano L, Brighina F, Carboni N, Garibaldi M, Zuccarino R, Gagliardi D, Siliquini S, Previtali S, Taruscio D, Boccia S, Pera MC, Pane M, Mercuri E; ITASMAC working group. Coratti G, et al. Among authors: mercuri e. Neurology. 2023 Mar 14;100(11):522-528. doi: 10.1212/WNL.0000000000201654. Epub 2022 Dec 2. Neurology. 2023. PMID: 36460469 Free PMC article.
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study.
Brogna C, Pane M, Coratti G, D'Amico A, Pegoraro E, Bello L, Sansone VAM, Albamonte E, Messina S, Pini A, D'Angelo MG, Bruno C, Mongini T, Ricci FS, Berardinelli A, Battini R, Masson R, Bertini ES, Politano L, Mercuri E, Italian Dmd Group. Brogna C, et al. Among authors: mercuri e. Children (Basel). 2023 Apr 19;10(4):746. doi: 10.3390/children10040746. Children (Basel). 2023. PMID: 37189996 Free PMC article.
254th ENMC international workshop. Formation of a European network to initiate a European data collection, along with development and sharing of treatment guidelines for adult SMA patients. Virtual meeting 28 - 30 January 2022.
Walter MC, Laforêt P, van der Pol WL, Pegoraro E; 254th ENMC Workshop Study Group. Walter MC, et al. Neuromuscul Disord. 2023 Jun;33(6):511-522. doi: 10.1016/j.nmd.2023.03.011. Epub 2023 Mar 29. Neuromuscul Disord. 2023. PMID: 37245491 No abstract available.
Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach.
Trucco F, Salmin F, Lizio A, Coratti G, Albamonte E, Frisoni MC, Mauro L, Carraro E, Palazzo G, Lops J, Cattaneo C, Pozzi S, Casiraghi J, Di Bari A, Berti B, Stanca G, Ricci M, Pane M, Heatwole C, Dilek N, Mercuri E, Sansone VA. Trucco F, et al. Among authors: mercuri e. Dysphagia. 2023 Dec;38(6):1568-1580. doi: 10.1007/s00455-023-10584-z. Epub 2023 Jun 8. Dysphagia. 2023. PMID: 37289231 Free PMC article.
Correction to: 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. Among authors: mercuri e. Neurol Ther. 2023 Oct;12(5):1799-1801. doi: 10.1007/s40120-023-00503-7. Neurol Ther. 2023. PMID: 37395990 Free PMC article. No abstract available.
659 results