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LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.
Musumeci O, la Marca G, Spada M, Mondello S, Danesino C, Comi GP, Pegoraro E, Antonini G, Marrosu G, Liguori R, Morandi L, Moggio M, Massa R, Ravaglia S, Di Muzio A, Filosto M, Tonin P, Di Iorio G, Servidei S, Siciliano G, Angelini C, Mongini T, Toscano A; Italian GSD II group. Musumeci O, et al. Among authors: ravaglia s. J Neurol Neurosurg Psychiatry. 2016 Jan;87(1):5-11. doi: 10.1136/jnnp-2014-310164. Epub 2015 Mar 17. J Neurol Neurosurg Psychiatry. 2016. PMID: 25783438
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.
Efthymiou S, Lemmers RJLF, Vishnu VY, Dominik N, Perrone B, Facchini S, Vegezzi E, Ravaglia S, Wilson L, van der Vliet PJ, Mishra R, Reyaz A, Ahmad T, Bhatia R, Polke JM, Srivastava MP, Cortese A, Houlden H, van der Maarel SM, Hanna MG, Bugiardini E. Efthymiou S, et al. Among authors: ravaglia s. Biomolecules. 2023 Oct 24;13(11):1567. doi: 10.3390/biom13111567. Biomolecules. 2023. PMID: 38002249 Free PMC article.
Muscle MRI in adult-onset acid maltase deficiency.
Pichiecchio A, Uggetti C, Ravaglia S, Egitto MG, Rossi M, Sandrini G, Danesino C. Pichiecchio A, et al. Among authors: ravaglia s. Neuromuscul Disord. 2004 Jan;14(1):51-5. doi: 10.1016/j.nmd.2003.08.003. Neuromuscul Disord. 2004. PMID: 14659413
Dietary treatment in adult-onset type II glycogenosis.
Ravaglia S, Pichiecchio A, Rossi M, Filippi PD, Minelli A, Moglia A, Danesino C. Ravaglia S, et al. J Inherit Metab Dis. 2006 Aug;29(4):590. doi: 10.1007/s10545-006-0144-z. Epub 2006 Jun 19. J Inherit Metab Dis. 2006. PMID: 16786256
Ptosis as a feature of late-onset glycogenosis type II.
Ravaglia S, Repetto A, De Filippi P, Danesino C. Ravaglia S, et al. Neurology. 2007 Jul 3;69(1):116; author reply 116. doi: 10.1212/01.wnl.0000270101.95790.fb. Neurology. 2007. PMID: 17606892 No abstract available.
Management and treatment of glycogenosis type II.
Bembi B, Cerini E, Danesino C, Donati MA, Gasperini S, Morandi L, Musumeci O, Parenti G, Ravaglia S, Seidita F, Toscano A, Vianello A. Bembi B, et al. Among authors: ravaglia s. Neurology. 2008 Dec 2;71(23 Suppl 2):S12-36. doi: 10.1212/WNL.0b013e31818da93f. Neurology. 2008. PMID: 19047571 Review.
Diagnosis of glycogenosis type II.
Bembi B, Cerini E, Danesino C, Donati MA, Gasperini S, Morandi L, Musumeci O, Parenti G, Ravaglia S, Seidita F, Toscano A, Vianello A. Bembi B, et al. Among authors: ravaglia s. Neurology. 2008 Dec 2;71(23 Suppl 2):S4-11. doi: 10.1212/WNL.0b013e31818da91e. Neurology. 2008. PMID: 19047572 Review.
Enzyme replacement therapy in late-onset type II glycogenosis.
Ravaglia S, Moglia A, Costa A, Repetto A, Danesino C. Ravaglia S, et al. Eur J Neurol. 2009 Jul;16(7):e125. doi: 10.1111/j.1468-1331.2009.02667.x. Epub 2009 May 14. Eur J Neurol. 2009. PMID: 19469831 No abstract available.
112 results