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Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study.
De Vivo DC, Bertini E, Swoboda KJ, Hwu WL, Crawford TO, Finkel RS, Kirschner J, Kuntz NL, Parsons JA, Ryan MM, Butterfield RJ, Topaloglu H, Ben-Omran T, Sansone VA, Jong YJ, Shu F, Staropoli JF, Kerr D, Sandrock AW, Stebbins C, Petrillo M, Braley G, Johnson K, Foster R, Gheuens S, Bhan I, Reyna SP, Fradette S, Farwell W; NURTURE Study Group. De Vivo DC, et al. Among authors: sansone va. Neuromuscul Disord. 2019 Nov;29(11):842-856. doi: 10.1016/j.nmd.2019.09.007. Epub 2019 Sep 12. Neuromuscul Disord. 2019. PMID: 31704158 Free PMC article. Clinical Trial.
Oculopharyngeal muscular dystrophy in Italy.
Meola G, Sansone V, Rotondo G, Tomé FM, Bouchard JP. Meola G, et al. Neuromuscul Disord. 1997 Oct;7 Suppl 1:S53-6. doi: 10.1016/s0960-8966(97)00083-7. Neuromuscul Disord. 1997. PMID: 9392017 Free article.
1st Italian SMA Family Association Consensus Meeting: Management and recommendations for respiratory involvement in spinal muscular atrophy (SMA) types I-III, Rome, Italy, 30-31 January 2015.
Sansone VA, Racca F, Ottonello G, Vianello A, Berardinelli A, Crescimanno G, Casiraghi JL; Italian SMA Family Association. Sansone VA, et al. Neuromuscul Disord. 2015 Dec;25(12):979-89. doi: 10.1016/j.nmd.2015.09.009. Epub 2015 Sep 18. Neuromuscul Disord. 2015. PMID: 26453142 No abstract available.
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.
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function.
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, Tiziano FD, Mercuri E; Italian EAP working group. Pane M, et al. Among authors: sansone va. Neuromuscul Disord. 2018 Jul;28(7):582-585. doi: 10.1016/j.nmd.2018.05.010. Epub 2018 Jun 1. Neuromuscul Disord. 2018. PMID: 29960818
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: sansone va. Neurology. 2018 Aug 21;91(8):e696-e703. doi: 10.1212/WNL.0000000000006050. Epub 2018 Jul 25. Neurology. 2018. PMID: 30045959 Free PMC article.
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.
Ruhno C, McGovern VL, Avenarius MR, Snyder PJ, Prior TW, Nery FC, Muhtaseb A, Roggenbuck JS, Kissel JT, Sansone VA, Siranosian JJ, Johnstone AJ, Nwe PH, Zhang RZ, Swoboda KJ, Burghes AHM. Ruhno C, et al. Among authors: sansone va. Hum Genet. 2019 Mar;138(3):241-256. doi: 10.1007/s00439-019-01983-0. Epub 2019 Feb 20. Hum Genet. 2019. PMID: 30788592 Free PMC article.
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data.
Pane M, Coratti G, Sansone VA, Messina S, Bruno C, Catteruccia M, Sframeli M, Albamonte E, Pedemonte M, D'Amico A, Bravetti C, Berti B, Brigati G, Tacchetti P, Salmin F, de Sanctis R, Lucibello S, Piastra M, Genovese O, Bertini E, Vita G, Tiziano FD, Mercuri E; Italian Expanded Access Program Working Group. Pane M, et al. Among authors: sansone va. Ann Neurol. 2019 Sep;86(3):443-451. doi: 10.1002/ana.25533. Epub 2019 Jul 8. Ann Neurol. 2019. PMID: 31228281
196 results