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Page 1
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening.
Pane M, Donati MA, Cutrona C, De Sanctis R, Pirinu M, Coratti G, Ricci M, Palermo C, Berti B, Leone D, Ticci C, Sacchini M, Cerboneschi M, Capasso A, Cicala G, Pera MC, Bravetti C, Abiusi E, Vaisfeld A, Vento G, Tiziano FD, Mercuri E. Pane M, et al. Among authors: abiusi e. Eur J Pediatr. 2022 Jul;181(7):2821-2829. doi: 10.1007/s00431-022-04470-3. Epub 2022 May 6. Eur J Pediatr. 2022. PMID: 35522315 Free PMC article.
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study.
Tiziano FD, Lomastro R, Di Pietro L, Barbara Pasanisi M, Fiori S, Angelozzi C, Abiusi E, Angelini C, Sorarù G, Gaiani A, Mongini T, Vercelli L, Vasco G, Vita G, Luca Vita G, Messina S, Politano L, Passamano L, Di Gregorio G, Montomoli C, Orsi C, Campanella A, Mantegazza R, Morandi L. Tiziano FD, et al. Among authors: abiusi e. Eur J Hum Genet. 2013 Jun;21(6):630-6. doi: 10.1038/ejhg.2012.233. Epub 2012 Oct 17. Eur J Hum Genet. 2013. PMID: 23073312 Free PMC article.
Longitudinal assessments in discordant twins with SMA.
Pane M, Lapenta L, Abiusi E, de Sanctis R, Luigetti M, Palermo C, Ranalli D, Fiori S, Tiziano FD, Mercuri E. Pane M, et al. Among authors: abiusi e. Neuromuscul Disord. 2017 Oct;27(10):890-893. doi: 10.1016/j.nmd.2017.06.559. Epub 2017 Jul 8. Neuromuscul Disord. 2017. PMID: 28797588
Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol.
Tiziano FD, Lomastro R, Abiusi E, Pasanisi MB, Di Pietro L, Fiori S, Baranello G, Angelini C, Sorarù G, Gaiani A, Mongini T, Vercelli L, Mercuri E, Vasco G, Pane M, Vita G, Vita G, Messina S, Petillo R, Passamano L, Politano L, Campanella A, Mantegazza R, Morandi L. Tiziano FD, et al. Among authors: abiusi e. J Med Genet. 2019 May;56(5):293-300. doi: 10.1136/jmedgenet-2018-105482. Epub 2018 Dec 28. J Med Genet. 2019. PMID: 30593463 Clinical Trial.
SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples.
Abiusi E, Infante P, Cagnoli C, Lospinoso Severini L, Pane M, Coratti G, Pera MC, D'Amico A, Diano F, Novelli A, Spartano S, Fiori S, Baranello G, Moroni I, Mora M, Pasanisi MB, Pocino K, Le Pera L, D'Amico D, Travaglini L, Ria F, Bruno C, Locatelli D, Bertini ES, Morandi LO, Mercuri E, Di Marcotullio L, Tiziano FD. Abiusi E, et al. Elife. 2021 Sep 20;10:e68054. doi: 10.7554/eLife.68054. Elife. 2021. PMID: 34542403 Free PMC article.
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.
Abiusi E, Vaisfeld A, Fiori S, Novelli A, Spartano S, Faggiano MV, Giovanniello T, Angeloni A, Vento G, Santoloci R, Gigli F, D'Amico A, Costa S, Porzi A, Panella M, Ticci C, Daniotti M, Sacchini M, Boschi I, Dani C, Agostiniani R, Bertini E, Lanzone A, Lamarca G, Genuardi M, Pane M, Donati MA, Mercuri E, Tiziano FD; Italian SMA-NBS group. Abiusi E, et al. J Med Genet. 2023 Jul;60(7):697-705. doi: 10.1136/jmg-2022-108873. Epub 2022 Nov 22. J Med Genet. 2023. PMID: 36414255
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.
Walsh R, Adler A, Amin AS, Abiusi E, Care M, Bikker H, Amenta S, Feilotter H, Nannenberg EA, Mazzarotto F, Trevisan V, Garcia J, Hershberger RE, Perez MV, Sturm AC, Ware JS, Zareba W, Novelli V, Wilde AAM, Gollob MH. Walsh R, et al. Among authors: abiusi e. Eur Heart J. 2022 Apr 14;43(15):1500-1510. doi: 10.1093/eurheartj/ehab687. Eur Heart J. 2022. PMID: 34557911 Free PMC article.
18 results