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Page 1
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
Biancheri R, Falace A, Tessa A, Pedemonte M, Scapolan S, Cassandrini D, Aiello C, Rossi A, Broda P, Zara F, Santorelli FM, Minetti C, Bruno C. Biancheri R, et al. Among authors: minetti c. Biochem Biophys Res Commun. 2007 Nov 30;363(4):1033-7. doi: 10.1016/j.bbrc.2007.09.066. Epub 2007 Sep 25. Biochem Biophys Res Commun. 2007. PMID: 17923109
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.
Fiorillo C, Brisca G, Cassandrini D, Scapolan S, Astrea G, Valle M, Scuderi F, Trucco F, Natali A, Magnano G, Gazzerro E, Minetti C, Arca M, Santorelli FM, Bruno C. Fiorillo C, et al. Among authors: minetti c. Biochem Biophys Res Commun. 2013 Jan 4;430(1):241-4. doi: 10.1016/j.bbrc.2012.10.127. Epub 2012 Nov 9. Biochem Biophys Res Commun. 2013. PMID: 23146629
Clinical and genetic characterization of Chanarin-Dorfman syndrome.
Bruno C, Bertini E, Di Rocco M, Cassandrini D, Ruffa G, De Toni T, Seri M, Spada M, Li Volti G, D'Amico A, Trucco F, Arca M, Casali C, Angelini C, Dimauro S, Minetti C. Bruno C, et al. Among authors: minetti c. Biochem Biophys Res Commun. 2008 May 16;369(4):1125-8. doi: 10.1016/j.bbrc.2008.03.010. Epub 2008 Mar 11. Biochem Biophys Res Commun. 2008. PMID: 18339307
Congenital myopathies.
Bruno C, Minetti C. Bruno C, et al. Among authors: minetti c. Curr Neurol Neurosci Rep. 2004 Jan;4(1):68-73. doi: 10.1007/s11910-004-0015-7. Curr Neurol Neurosci Rep. 2004. PMID: 14683632 Review.
382 results