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Page 1
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
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. Among authors: vercelli l. 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.
Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases.
Mancuso M, Angelini C, Bertini E, Carelli V, Comi GP, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Zeviani M, Siciliano G; Nation-wide Italian Collaborative Network of Mitochondrial Diseases. Mancuso M, et al. Neuromuscul Disord. 2012 Dec;22 Suppl 3(3-3):S226-9. doi: 10.1016/j.nmd.2012.10.012. Neuromuscul Disord. 2012. PMID: 23182644 Free PMC article. Review.
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation.
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Caldarazzo Ienco E, Filosto M, Lamperti C, Martinelli D, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FM, Sauchelli D, Scarpelli M, Sciacco M, Spinazzi M, Valentino ML, Vercelli L, Zeviani M, Siciliano G. Mancuso M, et al. Among authors: vercelli l. Neurology. 2013 May 28;80(22):2049-54. doi: 10.1212/WNL.0b013e318294b44c. Epub 2013 May 1. Neurology. 2013. PMID: 23635963
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.
Ricci G, Scionti I, Sera F, Govi M, D'Amico R, Frambolli I, Mele F, Filosto M, Vercelli L, Ruggiero L, Berardinelli A, Angelini C, Antonini G, Bucci E, Cao M, Daolio J, Di Muzio A, Di Leo R, Galluzzi G, Iannaccone E, Maggi L, Maruotti V, Moggio M, Mongini T, Morandi L, Nikolic A, Pastorello E, Ricci E, Rodolico C, Santoro L, Servida M, Siciliano G, Tomelleri G, Tupler R. Ricci G, et al. Among authors: vercelli l. Brain. 2013 Nov;136(Pt 11):3408-17. doi: 10.1093/brain/awt226. Epub 2013 Sep 11. Brain. 2013. PMID: 24030947 Free PMC article.
56 results