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Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease.
Maggi L, Bello L, Bonanno S, Govoni A, Caponnetto C, Passamano L, Grandis M, Trojsi F, Cerri F, Gardani A, Ferraro M, Gadaleta G, Zangaro V, Caumo L, Maioli M, Tanel R, Saccani E, Meneri M, Vacchiano V, Ricci G, Sorarù G, D'Errico E, Bortolani S, Pavesi G, Gellera C, Zanin R, Corti S, Silvestrini M, Politano L, Schenone A, Previtali SC, Berardinelli A, Turri M, Verriello L, Coccia M, Mantegazza R, Liguori R, Filosto M, Marrosu G, Tiziano FD, Siciliano G, Simone IL, Mongini T, Comi G, Pegoraro E. Maggi L, et al. Among authors: tiziano fd. J Neurol Neurosurg Psychiatry. 2022 Dec;93(12):1253-1261. doi: 10.1136/jnnp-2022-329320. Epub 2022 Oct 11. J Neurol Neurosurg Psychiatry. 2022. PMID: 36220341
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy.
Mercuri E, Bertini E, Messina S, Solari A, D'Amico A, Angelozzi C, Battini R, Berardinelli A, Boffi P, Bruno C, Cini C, Colitto F, Kinali M, Minetti C, Mongini T, Morandi L, Neri G, Orcesi S, Pane M, Pelliccioni M, Pini A, Tiziano FD, Villanova M, Vita G, Brahe C. Mercuri E, et al. Among authors: tiziano fd. Neurology. 2007 Jan 2;68(1):51-5. doi: 10.1212/01.wnl.0000249142.82285.d6. Epub 2006 Nov 2. Neurology. 2007. PMID: 17082463 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. 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
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. 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.
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.
Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T; SMA Care Group. Mercuri E, et al. Neuromuscul Disord. 2018 Feb;28(2):103-115. doi: 10.1016/j.nmd.2017.11.005. Epub 2017 Nov 23. Neuromuscul Disord. 2018. PMID: 29290580 Free article. Review.
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. 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.
Nusinersen in type 0 spinal muscular atrophy: should we treat?
Tiberi E, Costa S, Pane M, Priolo F, de Sanctis R, Romeo D, Tiziano FD, Conti G, Vento G, Mercuri E. Tiberi E, et al. Among authors: tiziano fd. Ann Clin Transl Neurol. 2020 Dec;7(12):2481-2483. doi: 10.1002/acn3.51126. Epub 2020 Nov 4. Ann Clin Transl Neurol. 2020. PMID: 33147378 Free PMC article.
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired.
Taiana M, Govoni A, Salani S, Kleinschmidt N, Galli N, Saladini M, Ghezzi SB, Melzi V, Bersani M, Del Bo R, Muehlemann O, Bertini E, Sansone V, Albamonte E, Messina S, Mari F, Cesaroni E, Porfiri L, Tiziano FD, Vita GL, Sframeli M, Bonanno C, Bresolin N, Comi G, Corti S, Nizzardo M. Taiana M, et al. Among authors: tiziano fd. J Neurol Neurosurg Psychiatry. 2022 Aug;93(8):908-910. doi: 10.1136/jnnp-2021-326425. Epub 2022 Jan 27. J Neurol Neurosurg Psychiatry. 2022. PMID: 35086940 Free PMC article. No abstract available.
66 results