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Page 1
Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.
Nikolic A, Jones TI, Govi M, Mele F, Maranda L, Sera F, Ricci G, Ruggiero L, Vercelli L, Portaro S, Villa L, Fiorillo C, Maggi L, Santoro L, Antonini G, Filosto M, Moggio M, Angelini C, Pegoraro E, Berardinelli A, Maioli MA, D'Angelo G, Di Muzio A, Siciliano G, Tomelleri G, D'Esposito M, Della Ragione F, Brancaccio A, Piras R, Rodolico C, Mongini T, Magdinier F, Salsi V, Jones PL, Tupler R. Nikolic A, et al. Among authors: vercelli l. Int J Mol Sci. 2020 Apr 10;21(7):2635. doi: 10.3390/ijms21072635. Int J Mol Sci. 2020. PMID: 32290091 Free PMC article.
Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseases.
Sansone VA, Panzeri M, Montanari M, Apolone G, Gandossini S, Rose MR, Politano L, Solimene C, Siciliano G, Volpi L, Angelini C, Palmieri A, Toscano A, Musumeci O, Mongini T, Vercelli L, Massa R, Panico MB, Grandi M, Meola G. Sansone VA, et al. Among authors: vercelli l. Eur J Neurol. 2010 Sep;17(9):1178-1187. doi: 10.1111/j.1468-1331.2010.02992.x. Epub 2010 Mar 30. Eur J Neurol. 2010. PMID: 20374278
A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score.
Lamperti C, Fabbri G, Vercelli L, D'Amico R, Frusciante R, Bonifazi E, Fiorillo C, Borsato C, Cao M, Servida M, Greco F, Di Leo R, Volpi L, Manzoli C, Cudia P, Pastorello E, Ricciardi L, Siciliano G, Galluzzi G, Rodolico C, Santoro L, Tomelleri G, Angelini C, Ricci E, Palmucci L, Moggio M, Tupler R. Lamperti C, et al. Among authors: vercelli l. Muscle Nerve. 2010 Aug;42(2):213-7. doi: 10.1002/mus.21671. Muscle Nerve. 2010. PMID: 20544930
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. J Neurol. 2012 May;259(5):952-8. doi: 10.1007/s00415-011-6293-5. Epub 2011 Nov 12. J Neurol. 2012. PMID: 22081099
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy.
Scionti I, Greco F, Ricci G, Govi M, Arashiro P, Vercelli L, Berardinelli A, Angelini C, Antonini G, Cao M, Di Muzio A, Moggio M, Morandi L, Ricci E, Rodolico C, Ruggiero L, Santoro L, Siciliano G, Tomelleri G, Trevisan CP, Galluzzi G, Wright W, Zatz M, Tupler R. Scionti I, et al. Among authors: vercelli l. Am J Hum Genet. 2012 Apr 6;90(4):628-35. doi: 10.1016/j.ajhg.2012.02.019. Am J Hum Genet. 2012. PMID: 22482803 Free PMC article.
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.
Brioschi S, Gualandi F, Scotton C, Armaroli A, Bovolenta M, Falzarano MS, Sabatelli P, Selvatici R, D'Amico A, Pane M, Ricci G, Siciliano G, Tedeschi S, Pini A, Vercelli L, De Grandis D, Mercuri E, Bertini E, Merlini L, Mongini T, Ferlini A. Brioschi S, et al. Among authors: vercelli l. BMC Med Genet. 2012 Aug 16;13:73. doi: 10.1186/1471-2350-13-73. BMC Med Genet. 2012. PMID: 22894145 Free PMC article.
54 results