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2,033 results

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Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Fusto A, Cassandrini D, Fiorillo C, Codemo V, Astrea G, D'Amico A, Maggi L, Magri F, Pane M, Tasca G, Sabbatini D, Bello L, Battini R, Bernasconi P, Fattori F, Bertini ES, Comi G, Messina S, Mongini T, Moroni I, Panicucci C, Berardinelli A, Donati A, Nigro V, Pini A, Giannotta M, Dosi C, Ricci E, Mercuri E, Minervini G, Tosatto S, Santorelli F, Bruno C, Pegoraro E. Fusto A, et al. Among authors: comi g. Acta Neuropathol Commun. 2022 Apr 15;10(1):54. doi: 10.1186/s40478-022-01357-0. Acta Neuropathol Commun. 2022. PMID: 35428369 Free PMC article.
Sarcoglycan deficiency in a large Italian population of myopathic patients.
Prelle A, Comi GP, Tancredi L, Rigoletto C, Ciscato P, Fortunato F, Nesti S, Sciacco M, Robotti M, Bazzi P, Felisari G, Moggio M, Scarlato G. Prelle A, et al. Among authors: comi gp. Acta Neuropathol. 1998 Nov;96(5):509-14. doi: 10.1007/s004010050926. Acta Neuropathol. 1998. PMID: 9829815
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: comi gp. Neurology. 2009 May 26;72(21):1802-9. doi: 10.1212/01.wnl.0000346518.68110.60. Epub 2009 Mar 18. Neurology. 2009. PMID: 19299310
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: comi gp. Neurology. 2010 Sep 7;75(10):898-903. doi: 10.1212/WNL.0b013e3181f11dd5. Neurology. 2010. PMID: 20820001
New molecular findings in congenital myopathies due to selenoprotein N gene mutations.
Cagliani R, Fruguglietti ME, Berardinelli A, D'Angelo MG, Prelle A, Riva S, Napoli L, Gorni K, Orcesi S, Lamperti C, Pichiecchio A, Signaroldi E, Tupler R, Magri F, Govoni A, Corti S, Bresolin N, Moggio M, Comi GP. Cagliani R, et al. Among authors: comi gp. J Neurol Sci. 2011 Jan 15;300(1-2):107-13. doi: 10.1016/j.jns.2010.09.011. J Neurol Sci. 2011. PMID: 20937510
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients.
Magri F, Del Bo R, D'Angelo MG, Sciacco M, Gandossini S, Govoni A, Napoli L, Ciscato P, Fortunato F, Brighina E, Bonato S, Bordoni A, Lucchini V, Corti S, Moggio M, Bresolin N, Comi GP. Magri F, et al. Neuromuscul Disord. 2012 Nov;22(11):934-43. doi: 10.1016/j.nmd.2012.05.001. Epub 2012 Jun 27. Neuromuscul Disord. 2012. PMID: 22742934 Free PMC article.
2,033 results