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266 results

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Page 1
Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study.
Pane M, Stanca G, Coratti G, D' Amico A, Sansone VA, Berti B, Fanelli L, Albamonte E, Ausili Cefaro C, Cerchiari A, Catteruccia M, De Sanctis R, Leone D, Palermo C, Buchignani B, Onesimo R, Kuczynska EM, Tosi M, Pera MC, Bravetti C, Tiziano FD, Bertini E, Mercuri E. Pane M, et al. Among authors: leone d. Eur J Pediatr. 2024 Nov;183(11):4735-4745. doi: 10.1007/s00431-024-05735-9. Epub 2024 Aug 29. Eur J Pediatr. 2024. PMID: 39210071 Free PMC article.
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?
Pane M, Stanca G, Ticci C, Cutrona C, De Sanctis R, Pirinu M, Coratti G, Palermo C, Berti B, Leone D, Sacchini M, Cerboneschi M, Fanelli L, Norcia G, Forcina N, Capasso A, Cicala G, Antonaci L, Ricci M, Pera MC, Bravetti C, Donati MA, Procopio E, Abiusi E, Vaisfeld A, Onesimo R, Tiziano FD, Mercuri E. Pane M, et al. Among authors: leone d. Eur J Pediatr. 2024 Jul;183(7):2995-2999. doi: 10.1007/s00431-024-05546-y. Epub 2024 Apr 18. Eur J Pediatr. 2024. PMID: 38634892 Free PMC article.
An observational study of functional abilities in infants, children, and adults with type 1 SMA.
Pane M, Palermo C, Messina S, Sansone VA, Bruno C, Catteruccia M, Sframeli M, Albamonte E, Pedemonte M, D'Amico A, Brigati G, de Sanctis R, Coratti G, Lucibello S, Bertini E, Vita G, Danilo Tiziano F, Mercuri E; Italian EAP Working Group. Pane M, et al. Neurology. 2018 Aug 21;91(8):e696-e703. doi: 10.1212/WNL.0000000000006050. Epub 2018 Jul 25. Neurology. 2018. PMID: 30045959 Free PMC article.
Development of an academic disease registry for spinal muscular atrophy.
Mercuri E, Finkel R, Scoto M, Hall S, Eaton S, Rashid A, Balashkina J, Coratti G, Pera MC, Samsuddin S, Civitello M, Muntoni F; iSMAC Group. Mercuri E, et al. Neuromuscul Disord. 2019 Oct;29(10):794-799. doi: 10.1016/j.nmd.2019.08.014. Epub 2019 Aug 29. Neuromuscul Disord. 2019. PMID: 31558335
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: leone d, d amico a. Arch Dis Child. 2024 Apr 18;109(5):395-401. doi: 10.1136/archdischild-2023-326613. Arch Dis Child. 2024. PMID: 38290776
Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study.
Coratti G, Pane M, Brogna C, D'Amico A, Pegoraro E, Bello L, Sansone VA, Albamonte E, Ferraroli E, Mazzone ES, Fanelli L, Messina S, Sframeli M, Catteruccia M, Cicala G, Capasso A, Ricci M, Frosini S, De Luca G, Rolle E, De Sanctis R, Forcina N, Norcia G, Passamano L, Scutifero M, Gardani A, Pini A, Monaco G, D'Angelo MG, Leone D, Zanin R, Vita GL, Panicucci C, Bruno C, Mongini T, Ricci F, Berardinelli A, Battini R, Masson R, Baranello G, Dosi C, Bertini E, Nigro V, Politano L, Mercuri E. Coratti G, et al. Among authors: d angelo mg, leone d, d amico a. Neuromuscul Disord. 2024 Jan;34:75-82. doi: 10.1016/j.nmd.2023.11.011. Epub 2023 Dec 3. Neuromuscul Disord. 2024. PMID: 38157655 Free article.
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: leone d. Int J Mol Sci. 2024 Jul 16;25(14):7782. doi: 10.3390/ijms25147782. Int J Mol Sci. 2024. PMID: 39063023 Free PMC article.
A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript "single-center experience with intrathecal administration of nusinersen in children with spinal muscular atrophy type 1" written by pechmann and colleagues".
Sansone VA, Pane M, Messina S, Bruno C, D'Amico A, Albamonte E, Catteruccia M, Sframeli M, Pedemonte M, Vita G, Bertini E, Mercuri E; Italian ISMAc Group. Sansone VA, et al. Eur J Paediatr Neurol. 2018 Jul;22(4):729-731. doi: 10.1016/j.ejpn.2018.02.004. Epub 2018 Feb 19. Eur J Paediatr Neurol. 2018. PMID: 29673809 Free article. No abstract available.
Genetic risk factors for Mesoamerican nephropathy.
Friedman DJ, Leone DA, Amador JJ, Kupferman J, Francey LJ, Lopez-Pilarte D, Lau J, Delgado I, Yih WK, Salinas A, Wang M, Genovese G, Shah S, Kelly J, Tattersfield CF, Raines NH, Amador M, Dias L, Pitsillides A, Ramirez-Rubio O, Amador AG, Cortopassi M, Applebaum KM, Alper SL, Banks AS, McClean MD, Leibler JH, Scammell MK, Dupuis J, Brooks DR. Friedman DJ, et al. Among authors: leone da. Proc Natl Acad Sci U S A. 2024 Dec 3;121(49):e2404848121. doi: 10.1073/pnas.2404848121. Epub 2024 Nov 25. Proc Natl Acad Sci U S A. 2024. PMID: 39585978
266 results