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The heterozygous deletion c.1509_1510delAG in exon 14 of FUS causes an aggressive childhood-onset ALS with cognitive impairment.
Lanteri P, Meola I, Canosa A, De Marco G, Lomartire A, Rinaudo MT, Albamonte E, Sansone VA, Lunetta C, Manera U, Vasta R, Moglia C, Calvo A, Origone P, Chiò A, Mandich P. Lanteri P, et al. Among authors: albamonte e. Neurobiol Aging. 2021 Jul;103:130.e1-130.e7. doi: 10.1016/j.neurobiolaging.2021.01.029. Epub 2021 Feb 3. Neurobiol Aging. 2021. PMID: 33637330
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. Among authors: albamonte e. 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.
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data.
Pane M, Coratti G, Brogna C, Mazzone ES, Mayhew A, Fanelli L, Messina S, D'Amico A, Catteruccia M, Scutifero M, Frosini S, Lanzillotta V, Colia G, Cavallaro F, Rolle E, De Sanctis R, Forcina N, Petillo R, Barp A, Gardani A, Pini A, Monaco G, D'Angelo MG, Zanin R, Vita GL, Bruno C, Mongini T, Ricci F, Pegoraro E, Bello L, Berardinelli A, Battini R, Sansone V, Albamonte E, Baranello G, Bertini E, Politano L, Sormani MP, Mercuri E. Pane M, et al. Among authors: albamonte e. PLoS One. 2018 Jun 20;13(6):e0199223. doi: 10.1371/journal.pone.0199223. eCollection 2018. PLoS One. 2018. PMID: 29924848 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. Among authors: albamonte e. Neurology. 2018 Aug 21;91(8):e696-e703. doi: 10.1212/WNL.0000000000006050. Epub 2018 Jul 25. Neurology. 2018. PMID: 30045959 Free PMC article.
Intrathecal nusinersen treatment for SMA in a dedicated neuromuscular clinic: an example of multidisciplinary and integrated care.
Sansone VA, Albamonte E, Salmin F, Casiraghi J, Pirola A, Bettinelli M, Rao F, Mancini L, Tovaglieri N, Fedeli F, Stoia P, Heinen M, Cozzi V, Carraro E, Lunetta C, Di Bari A, Mercuri E; Italian EAP working group. Sansone VA, et al. Among authors: albamonte e. Neurol Sci. 2019 Feb;40(2):327-332. doi: 10.1007/s10072-018-3622-9. Epub 2018 Nov 15. Neurol Sci. 2019. PMID: 30430317
Longitudinal natural history in young boys with Duchenne muscular dystrophy.
Coratti G, Brogna C, Norcia G, Ricotti V, Abbott L, D'Amico A, Berardinelli A, Vita GL, Lucibello S, Messina S, Sansone V, Albamonte E, Colia G, Salmin F, Gardani A, Manzur A, Main M, Baranello G, Arnoldi MT, Parsons J, Carry T, Connolly AM, Bertini E, Muntoni F, Pane M, Mercuri E. Coratti G, et al. Among authors: albamonte e. Neuromuscul Disord. 2019 Nov;29(11):857-862. doi: 10.1016/j.nmd.2019.09.010. Epub 2019 Sep 26. Neuromuscul Disord. 2019. PMID: 31629611
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?
Pera MC, Coratti G, Berti B, D'Amico A, Sframeli M, Albamonte E, de Sanctis R, Messina S, Catteruccia M, Brigati G, Antonaci L, Lucibello S, Bruno C, Sansone VA, Bertini E, Tiziano D, Pane M, Mercuri E. Pera MC, et al. Among authors: albamonte e. PLoS One. 2020 Mar 23;15(3):e0230677. doi: 10.1371/journal.pone.0230677. eCollection 2020. PLoS One. 2020. PMID: 32203538 Free PMC article.
Muscle MRI in two SMA patients on nusinersen treatment: A two years follow-up.
Barp A, Carraro E, Albamonte E, Salmin F, Lunetta C, Comi GP, Messina C, Albano D, Chianca V, Sconfienza LM, Mercuri EM, Sansone VA. Barp A, et al. Among authors: albamonte e. J Neurol Sci. 2020 Oct 15;417:117067. doi: 10.1016/j.jns.2020.117067. Epub 2020 Jul 29. J Neurol Sci. 2020. PMID: 32745721 Free PMC article.
Respiratory function and therapeutic expectations in DMD: families experience and perspective.
Brogna C, Lucibello S, Coratti G, Vita G, Sansone VA, Messina S, Albamonte E, Salmin F, Ferrantini G, Pede E, Consulo C, Fanelli L, Forcina N, Norcia G, Pane M, Mercuri E. Brogna C, et al. Among authors: albamonte e. Acta Myol. 2020 Sep 1;39(3):121-129. doi: 10.36185/2532-1900-016. eCollection 2020 Sep. Acta Myol. 2020. PMID: 33305168 Free PMC article.
57 results