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Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.
Angelini C, Semplicini C, Ravaglia S, Bembi B, Servidei S, Pegoraro E, Moggio M, Filosto M, Sette E, Crescimanno G, Tonin P, Parini R, Morandi L, Marrosu G, Greco G, Musumeci O, Di Iorio G, Siciliano G, Donati MA, Carubbi F, Ermani M, Mongini T, Toscano A; Italian GSDII Group. Angelini C, et al. Among authors: mongini t. J Neurol. 2012 May;259(5):952-8. doi: 10.1007/s00415-011-6293-5. Epub 2011 Nov 12. J Neurol. 2012. PMID: 22081099
Phenotype modulators in myophosphorylase deficiency.
Martinuzzi A, Sartori E, Fanin M, Nascimbeni A, Valente L, Angelini C, Siciliano G, Mongini T, Tonin P, Tomelleri G, Toscano A, Merlini L, Bindoff LA, Bertelli S. Martinuzzi A, et al. Among authors: mongini t. Ann Neurol. 2003 Apr;53(4):497-502. doi: 10.1002/ana.10499. Ann Neurol. 2003. PMID: 12666117
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.
Bruno C, Cassandrini D, Martinuzzi A, Toscano A, Moggio M, Morandi L, Servidei S, Mongini T, Angelini C, Musumeci O, Comi GP, Lamperti C, Filosto M, Zara F, Minetti C. Bruno C, et al. Among authors: mongini t. Hum Mutat. 2006 Jul;27(7):718. doi: 10.1002/humu.9434. Hum Mutat. 2006. PMID: 16786513
Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia.
Trevisan CP, Pastorello E, Armani M, Angelini C, Nante G, Tomelleri G, Tonin P, Mongini T, Palmucci L, Galluzzi G, Tupler RG, Barchitta A. Trevisan CP, et al. Among authors: mongini t. Eur Neurol. 2006;56(1):1-5. doi: 10.1159/000094248. Epub 2006 Jun 27. Eur Neurol. 2006. PMID: 16804309
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: mongini t. 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.
Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function.
Trevisan CP, Pastorello E, Ermani M, Angelini C, Tomelleri G, Tonin P, Mongini T, Palmucci L, Galluzzi G, Tupler RG, Marioni G, Rimini A. Trevisan CP, et al. Among authors: mongini t. Audiol Neurootol. 2008;13(1):1-6. doi: 10.1159/000107431. Epub 2007 Aug 22. Audiol Neurootol. 2008. PMID: 17715463
243 results