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Report of a novel ATP7A mutation causing distal motor neuropathy.
Gualandi F, Sette E, Fortunato F, Bigoni S, De Grandis D, Scotton C, Selvatici R, Neri M, Incensi A, Liguori R, Storbeck M, Karakaya M, Simioni V, Squarzoni S, Timmerman V, Wirth B, Donadio V, Tugnoli V, Ferlini A. Gualandi F, et al. Among authors: squarzoni s. Neuromuscul Disord. 2019 Oct;29(10):776-785. doi: 10.1016/j.nmd.2019.08.008. Epub 2019 Aug 23. Neuromuscul Disord. 2019. PMID: 31558336
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: squarzoni s. Neurology. 2008 Oct 14;71(16):1245-53. doi: 10.1212/01.wnl.0000327611.01687.5e. Neurology. 2008. PMID: 18852439
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: squarzoni s. Neurology. 2009 Dec 1;73(22):1883-91. doi: 10.1212/WNL.0b013e3181c3fd2a. Neurology. 2009. PMID: 19949035
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: squarzoni s. 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: squarzoni s. 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.
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies.
Tagliavini F, Pellegrini C, Sardone F, Squarzoni S, Paulsson M, Wagener R, Gualandi F, Trabanelli C, Ferlini A, Merlini L, Santi S, Maraldi NM, Faldini C, Sabatelli P. Tagliavini F, et al. Among authors: squarzoni s. Biochim Biophys Acta. 2014 Sep;1842(9):1604-12. doi: 10.1016/j.bbadis.2014.05.033. Epub 2014 Jun 5. Biochim Biophys Acta. 2014. PMID: 24907562 Free PMC article.
121 results