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219 results

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Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Ricci M, Cicala G, Capasso A, Coratti G, Fiori S, Cutrona C, D'Amico A, Sansone VA, Bruno C, Messina S, Mongini T, Coccia M, Siciliano G, Pegoraro E, Masson R, Filosto M, Comi GP, Corti S, Ronchi D, Maggi L, D'Angelo MG, Vacchiano V, Ticci C, Ruggiero L, Verriello L, Ricci FS, Berardinelli AL, Maioli MA, Garibaldi M, Nigro V, Previtali SC, Pera MC, Tizzano E, Pane M, Tiziano FD, Mercuri E; ITASMAC Working Group. Ricci M, et al. Among authors: fiori s. Ann Neurol. 2023 Dec;94(6):1126-1135. doi: 10.1002/ana.26788. Epub 2023 Sep 22. Ann Neurol. 2023. PMID: 37695206 Free article.
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design.
Tiziano FD, Lomastro R, Pinto AM, Messina S, D'Amico A, Fiori S, Angelozzi C, Pane M, Mercuri E, Bertini E, Neri G, Brahe C. Tiziano FD, et al. Among authors: fiori s. J Med Genet. 2010 Dec;47(12):856-8. doi: 10.1136/jmg.2010.080366. Epub 2010 Sep 12. J Med Genet. 2010. PMID: 20837492 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. Among authors: fiori s. Elife. 2021 Sep 20;10:e68054. doi: 10.7554/eLife.68054. Elife. 2021. PMID: 34542403 Free PMC article.
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: fiori s. 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.
The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study.
Tiziano FD, Bertini E, Messina S, Angelozzi C, Pane M, D'Amico A, Alfieri P, Fiori S, Battini R, Berardinelli A, Boffi P, Bruno C, Cini C, Minetti C, Mongini T, Morandi L, Orcesi S, Pelliccioni M, Pini A, Villanova M, Vita G, Locatelli M, Mercuri E, Brahe C. Tiziano FD, et al. Among authors: fiori s. Neuromuscul Disord. 2007 May;17(5):400-3. doi: 10.1016/j.nmd.2007.02.006. Epub 2007 Apr 12. Neuromuscul Disord. 2007. PMID: 17433677
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: fiori s. 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
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. Among authors: fiori s. 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
219 results