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Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report.
Martoni E, Petrini S, Trabanelli C, Sabatelli P, Urciuolo A, Selvatici R, D'Amico A, Falzarano S, Bertini E, Bonaldo P, Ferlini A, Gualandi F. Martoni E, et al. Among authors: petrini s. BMC Med Genet. 2013 Jun 5;14:59. doi: 10.1186/1471-2350-14-59. BMC Med Genet. 2013. PMID: 23738969 Free PMC article.
Immunocytochemical detection of emerin within the nuclear matrix.
Squarzoni S, Sabatelli P, Ognibene A, Toniolo D, Cartegni L, Cobianchi F, Petrini S, Merlini L, Maraldi NM. Squarzoni S, et al. Among authors: petrini s. Neuromuscul Disord. 1998 Jun;8(5):338-44. doi: 10.1016/s0960-8966(98)00031-5. Neuromuscul Disord. 1998. PMID: 9673989
Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy.
Ognibene A, Sabatelli P, Petrini S, Squarzoni S, Riccio M, Santi S, Villanova M, Palmeri S, Merlini L, Maraldi NM. Ognibene A, et al. Among authors: petrini s. Muscle Nerve. 1999 Jul;22(7):864-9. doi: 10.1002/(sici)1097-4598(199907)22:7<864::aid-mus8>3.0.co;2-g. Muscle Nerve. 1999. PMID: 10398203
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.
Giusti B, Lucarini L, Pietroni V, Lucioli S, Bandinelli B, Sabatelli P, Squarzoni S, Petrini S, Gartioux C, Talim B, Roelens F, Merlini L, Topaloglu H, Bertini E, Guicheney P, Pepe G. Giusti B, et al. Among authors: petrini s. Ann Neurol. 2005 Sep;58(3):400-10. doi: 10.1002/ana.20586. Ann Neurol. 2005. PMID: 16130093
Expanding the clinical spectrum of POMT1 phenotype.
D'Amico A, Tessa A, Bruno C, Petrini S, Biancheri R, Pane M, Pedemonte M, Ricci E, Falace A, Rossi A, Mercuri E, Santorelli FM, Bertini E. D'Amico A, et al. Among authors: petrini s. Neurology. 2006 May 23;66(10):1564-7; discussion 1461. doi: 10.1212/01.wnl.0000216145.66476.36. Neurology. 2006. PMID: 16717220
180 results