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Page 1
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.
Marinella G, Astrea G, Buchignani B, Cassandrini D, Doccini S, Filosto M, Galatolo D, Gallone S, Giannini F, Lopergolo D, Maioli MA, Magri F, Malandrini A, Mandich P, Mari F, Massa R, Mata S, Melani F, Moggio M, Mongini TE, Pasquariello R, Pegoraro E, Ricci F, Ricci G, Rodolico C, Rubegni A, Siciliano G, Sperti M, Ticci C, Tonin P, Santorelli FM, Battini R. Marinella G, et al. Among authors: moggio m. Int J Mol Sci. 2022 Nov 23;23(23):14567. doi: 10.3390/ijms232314567. Int J Mol Sci. 2022. PMID: 36498898 Free PMC article.
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: moggio m. Hum Mutat. 2006 Jul;27(7):718. doi: 10.1002/humu.9434. Hum Mutat. 2006. PMID: 16786513
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E. Mercuri E, et al. Among authors: moggio m. Neurology. 2009 May 26;72(21):1802-9. doi: 10.1212/01.wnl.0000346518.68110.60. Epub 2009 Mar 18. Neurology. 2009. PMID: 19299310
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: moggio m. Muscle Nerve. 2010 Aug;42(2):213-7. doi: 10.1002/mus.21671. Muscle Nerve. 2010. PMID: 20544930
Congenital muscular dystrophies with cognitive impairment. A population study.
Messina S, Bruno C, Moroni I, Pegoraro E, D'Amico A, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Farina L, Minetti C, Moggio M, Mongini T, Mottarelli E, Pane M, Pantaleoni C, Pichiecchio A, Pini A, Ricci E, Saredi S, Sframeli M, Tortorella G, Toscano A, Trevisan CP, Uggetti C, Vasco G, Comi GP, Santorelli FM, Bertini E, Mercuri E. Messina S, et al. Among authors: moggio m. Neurology. 2010 Sep 7;75(10):898-903. doi: 10.1212/WNL.0b013e3181f11dd5. Neurology. 2010. PMID: 20820001
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.
Magri F, Del Bo R, D'Angelo MG, Govoni A, Ghezzi S, Gandossini S, Sciacco M, Ciscato P, Bordoni A, Tedeschi S, Fortunato F, Lucchini V, Cereda M, Corti S, Moggio M, Bresolin N, Comi GP. Magri F, et al. Among authors: moggio m. BMC Med Genet. 2011 Mar 11;12:37. doi: 10.1186/1471-2350-12-37. BMC Med Genet. 2011. PMID: 21396098 Free PMC article.
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: moggio m. J Neurol. 2012 May;259(5):952-8. doi: 10.1007/s00415-011-6293-5. Epub 2011 Nov 12. J Neurol. 2012. PMID: 22081099
New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy.
Angelini C, Semplicini C, Ravaglia S, Moggio M, Comi GP, Musumeci O, Pegoraro E, Tonin P, Filosto M, Servidei S, Morandi L, Crescimanno G, Marrosu G, Siciliano G, Mongini T, Toscano A; Italian Group on GSDII. Angelini C, et al. Among authors: moggio m. Muscle Nerve. 2012 Jun;45(6):831-4. doi: 10.1002/mus.23340. Muscle Nerve. 2012. PMID: 22581536
295 results