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De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.
Berti B, Verrigni D, Nasca A, Di Nottia M, Leone D, Torraco A, Rizza T, Bellacchio E, Legati A, Palermo C, Marchet S, Lamperti C, Novelli A, Mercuri EM, Bertini ES, Pane M, Ghezzi D, Carrozzo R. Berti B, et al. Among authors: mercuri em. Int J Mol Sci. 2024 Jul 16;25(14):7782. doi: 10.3390/ijms25147782. Int J Mol Sci. 2024. PMID: 39063023 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. 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
Needleless inhaled anesthesia with sevoflurane: Advantages of a simplified approach for children with spinal muscular atrophy undergoing intrathecal administration of nusinersen.
Salerno A, Picconi E, Genovese O, Piastra M, Pulitanò SM, Tosi F, Mancino A, Pane M, De Sanctis R, Carlini D, Mercuri EM, Conti G. Salerno A, et al. Among authors: mercuri em. Paediatr Anaesth. 2023 Apr;33(4):282-290. doi: 10.1111/pan.14630. Epub 2023 Jan 22. Paediatr Anaesth. 2023. PMID: 36636888
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. Children (Basel). 2023 Apr 19;10(4):746. doi: 10.3390/children10040746. Children (Basel). 2023. PMID: 37189996 Free PMC article.
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. 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.
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. J Neuromuscul Dis. 2024;11(2):285-297. doi: 10.3233/JND-230129. J Neuromuscul Dis. 2024. PMID: 38363615 Free PMC article.
62 results