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Page 1
Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.
Arbustini E, Pasotti M, Pilotto A, Pellegrini C, Grasso M, Previtali S, Repetto A, Bellini O, Azan G, Scaffino M, Campana C, Piccolo G, Viganò M, Tavazzi L. Arbustini E, et al. Among authors: scaffino m. Eur J Heart Fail. 2006 Aug;8(5):477-83. doi: 10.1016/j.ejheart.2005.11.003. Epub 2005 Dec 22. Eur J Heart Fail. 2006. PMID: 16376610 Free article.
Gene symbol: SCN5A. Disease: Brugada syndrome.
Arbustini E, Scaffino MF, Diegoli M, Maziliano N, Grasso M, Pasotti M, Baraldi P, Zennaro RG. Arbustini E, et al. Among authors: scaffino mf. Hum Genet. 2005 Dec;118(3-4):536. Hum Genet. 2005. PMID: 16521247 No abstract available.
Solute transporters and aquaporins are impaired in celiac disease.
Laforenza U, Miceli E, Gastaldi G, Scaffino MF, Ventura U, Fontana JM, Orsenigo MN, Corazza GR. Laforenza U, et al. Among authors: scaffino mf. Biol Cell. 2010 May 26;102(8):457-67. doi: 10.1042/BC20100023. Biol Cell. 2010. PMID: 20415666