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Autosomal recessive myosclerosis myopathy is a collagen VI disorder.
Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P. Merlini L, et al. Among authors: martoni e. Neurology. 2008 Oct 14;71(16):1245-53. doi: 10.1212/01.wnl.0000327611.01687.5e. Neurology. 2008. PMID: 18852439
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies.
Bovolenta M, Neri M, Martoni E, Urciuolo A, Sabatelli P, Fabris M, Grumati P, Mercuri E, Bertini E, Merlini L, Bonaldo P, Ferlini A, Gualandi F. Bovolenta M, et al. Among authors: martoni e. BMC Med Genet. 2010 Mar 19;11:44. doi: 10.1186/1471-2350-11-44. BMC Med Genet. 2010. PMID: 20302629 Free PMC article.
Expression of the collagen VI α5 and α6 chains in normal human skin and in skin of patients with collagen VI-related myopathies.
Sabatelli P, Gara SK, Grumati P, Urciuolo A, Gualandi F, Curci R, Squarzoni S, Zamparelli A, Martoni E, Merlini L, Paulsson M, Bonaldo P, Wagener R. Sabatelli P, et al. Among authors: martoni e. J Invest Dermatol. 2011 Jan;131(1):99-107. doi: 10.1038/jid.2010.284. Epub 2010 Sep 30. J Invest Dermatol. 2011. PMID: 20882040 Free article.
Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis.
Sabatelli P, Gualandi F, Gara SK, Grumati P, Zamparelli A, Martoni E, Pellegrini C, Merlini L, Ferlini A, Bonaldo P, Maraldi NM, Paulsson M, Squarzoni S, Wagener R. Sabatelli P, et al. Among authors: martoni e. Matrix Biol. 2012 Apr;31(3):187-96. doi: 10.1016/j.matbio.2011.12.003. Epub 2011 Dec 30. Matrix Biol. 2012. PMID: 22226732 Free PMC article.
Autosomal recessive Bethlem myopathy.
Gualandi F, Urciuolo A, Martoni E, Sabatelli P, Squarzoni S, Bovolenta M, Messina S, Mercuri E, Franchella A, Ferlini A, Bonaldo P, Merlini L. Gualandi F, et al. Among authors: martoni e. Neurology. 2009 Dec 1;73(22):1883-91. doi: 10.1212/WNL.0b013e3181c3fd2a. Neurology. 2009. PMID: 19949035
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy.
Scotton C, Bovolenta M, Schwartz E, Falzarano MS, Martoni E, Passarelli C, Armaroli A, Osman H, Rodolico C, Messina S, Pegoraro E, D'Amico A, Bertini E, Gualandi F, Neri M, Selvatici R, Boffi P, Maioli MA, Lochmüller H, Straub V, Bushby K, Castrignanò T, Pesole G, Sabatelli P, Merlini L, Braghetta P, Bonaldo P, Bernardi P, Foley R, Cirak S, Zaharieva I, Muntoni F, Capitanio D, Gelfi C, Kotelnikova E, Yuryev A, Lebowitz M, Zhang X, Hodge BA, Esser KA, Ferlini A. Scotton C, et al. Among authors: martoni e. J Cell Sci. 2016 Apr 15;129(8):1671-84. doi: 10.1242/jcs.175927. Epub 2016 Mar 4. J Cell Sci. 2016. PMID: 26945058 Free PMC article.
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse.
Rimessi P, Sabatelli P, Fabris M, Braghetta P, Bassi E, Spitali P, Vattemi G, Tomelleri G, Mari L, Perrone D, Medici A, Neri M, Bovolenta M, Martoni E, Maraldi NM, Gualandi F, Merlini L, Ballestri M, Tondelli L, Sparnacci K, Bonaldo P, Caputo A, Laus M, Ferlini A. Rimessi P, et al. Among authors: martoni e. Mol Ther. 2009 May;17(5):820-7. doi: 10.1038/mt.2009.8. Epub 2009 Feb 24. Mol Ther. 2009. PMID: 19240694 Free PMC article.
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