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347 results

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Page 1
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: magri f. 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.
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.
Guglieri M, Magri F, D'Angelo MG, Prelle A, Morandi L, Rodolico C, Cagliani R, Mora M, Fortunato F, Bordoni A, Del Bo R, Ghezzi S, Pagliarani S, Lucchiari S, Salani S, Zecca C, Lamperti C, Ronchi D, Aguennouz M, Ciscato P, Di Blasi C, Ruggieri A, Moroni I, Turconi A, Toscano A, Moggio M, Bresolin N, Comi GP. Guglieri M, et al. Among authors: magri f. Hum Mutat. 2008 Feb;29(2):258-66. doi: 10.1002/humu.20642. Hum Mutat. 2008. PMID: 17994539
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.
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy.
Bello L, Piva L, Barp A, Taglia A, Picillo E, Vasco G, Pane M, Previtali SC, Torrente Y, Gazzerro E, Motta MC, Grieco GS, Napolitano S, Magri F, D'Amico A, Astrea G, Messina S, Sframeli M, Vita GL, Boffi P, Mongini T, Ferlini A, Gualandi F, Soraru' G, Ermani M, Vita G, Battini R, Bertini E, Comi GP, Berardinelli A, Minetti C, Bruno C, Mercuri E, Politano L, Angelini C, Hoffman EP, Pegoraro E. Bello L, et al. Among authors: magri f. Neurology. 2012 Jul 10;79(2):159-62. doi: 10.1212/WNL.0b013e31825f04ea. Epub 2012 Jun 27. Neurology. 2012. PMID: 22744661 Free PMC article.
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
Ronchi D, Garone C, Bordoni A, Gutierrez Rios P, Calvo SE, Ripolone M, Ranieri M, Rizzuti M, Villa L, Magri F, Corti S, Bresolin N, Mootha VK, Moggio M, DiMauro S, Comi GP, Sciacco M. Ronchi D, et al. Among authors: magri f. Brain. 2012 Nov;135(Pt 11):3404-15. doi: 10.1093/brain/aws258. Epub 2012 Oct 4. Brain. 2012. PMID: 23043144 Free PMC article.
24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy.
Mazzone ES, Pane M, Sormani MP, Scalise R, Berardinelli A, Messina S, Torrente Y, D'Amico A, Doglio L, Viggiano E, D'Ambrosio P, Cavallaro F, Frosini S, Bello L, Bonfiglio S, De Sanctis R, Rolle E, Bianco F, Magri F, Rossi F, Vasco G, Vita G, Motta MC, Donati MA, Sacchini M, Mongini T, Pini A, Battini R, Pegoraro E, Previtali S, Napolitano S, Bruno C, Politano L, Comi GP, Bertini E, Mercuri E. Mazzone ES, et al. Among authors: magri f. PLoS One. 2013;8(1):e52512. doi: 10.1371/journal.pone.0052512. Epub 2013 Jan 11. PLoS One. 2013. PMID: 23326337 Free PMC article.
Ongoing therapeutic trials and outcome measures for Duchenne muscular dystrophy.
Govoni A, Magri F, Brajkovic S, Zanetta C, Faravelli I, Corti S, Bresolin N, Comi GP. Govoni A, et al. Among authors: magri f. Cell Mol Life Sci. 2013 Dec;70(23):4585-602. doi: 10.1007/s00018-013-1396-z. Epub 2013 Jun 18. Cell Mol Life Sci. 2013. PMID: 23775131 Free PMC article. Review.
347 results