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Page 1
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: trabanelli c. BMC Med Genet. 2013 Jun 5;14:59. doi: 10.1186/1471-2350-14-59. BMC Med Genet. 2013. PMID: 23738969 Free PMC article.
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies.
Bovolenta M, Neri M, Fini S, Fabris M, Trabanelli C, Venturoli A, Martoni E, Bassi E, Spitali P, Brioschi S, Falzarano MS, Rimessi P, Ciccone R, Ashton E, McCauley J, Yau S, Abbs S, Muntoni F, Merlini L, Gualandi F, Ferlini A. Bovolenta M, et al. Among authors: trabanelli c. BMC Genomics. 2008 Nov 28;9:572. doi: 10.1186/1471-2164-9-572. BMC Genomics. 2008. PMID: 19040728 Free PMC article.
Paternal germline mosaicism in collagen VI related myopathies.
Armaroli A, Trabanelli C, Scotton C, Venturoli A, Selvatici R, Brisca G, Merlini L, Bruno C, Ferlini A, Gualandi F. Armaroli A, et al. Among authors: trabanelli c. Eur J Paediatr Neurol. 2015 Sep;19(5):533-6. doi: 10.1016/j.ejpn.2015.04.002. Epub 2015 Apr 30. Eur J Paediatr Neurol. 2015. PMID: 25978941
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: trabanelli c. 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.
Exon skipping-mediated dystrophin reading frame restoration for small mutations.
Spitali P, Rimessi P, Fabris M, Perrone D, Falzarano S, Bovolenta M, Trabanelli C, Mari L, Bassi E, Tuffery S, Gualandi F, Maraldi NM, Sabatelli-Giraud P, Medici A, Merlini L, Ferlini A. Spitali P, et al. Among authors: trabanelli c. Hum Mutat. 2009 Nov;30(11):1527-34. doi: 10.1002/humu.21092. Hum Mutat. 2009. PMID: 19760747
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.
Neri M, Rossi R, Trabanelli C, Mauro A, Selvatici R, Falzarano MS, Spedicato N, Margutti A, Rimessi P, Fortunato F, Fabris M, Gualandi F, Comi G, Tedeschi S, Seia M, Fiorillo C, Traverso M, Bruno C, Giardina E, Piemontese MR, Merla G, Cau M, Marica M, Scuderi C, Borgione E, Tessa A, Astrea G, Santorelli FM, Merlini L, Mora M, Bernasconi P, Gibertini S, Sansone V, Mongini T, Berardinelli A, Pini A, Liguori R, Filosto M, Messina S, Vita G, Toscano A, Vita G, Pane M, Servidei S, Pegoraro E, Bello L, Travaglini L, Bertini E, D'Amico A, Ergoli M, Politano L, Torella A, Nigro V, Mercuri E, Ferlini A. Neri M, et al. Among authors: trabanelli c. Front Genet. 2020 Mar 3;11:131. doi: 10.3389/fgene.2020.00131. eCollection 2020. Front Genet. 2020. PMID: 32194622 Free PMC article.
Exploring the clinical and epidemiological complexity of GJB2-linked deafness.
Gualandi F, Ravani A, Berto A, Sensi A, Trabanelli C, Falciano F, Trevisi P, Mazzoli M, Tibiletti MG, Cristofari E, Burdo S, Ferlini A, Martini A, Calzolari E. Gualandi F, et al. Among authors: trabanelli c. Am J Med Genet. 2002 Sep 15;112(1):38-45. doi: 10.1002/ajmg.10621. Am J Med Genet. 2002. PMID: 12239718
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome.
Gualandi F, Zaraket F, Malagù M, Parmeggiani G, Trabanelli C, Fini S, Dang X, Wei X, Fang M, Bertini M, Ferrari R, Ferlini A. Gualandi F, et al. Among authors: trabanelli c. Cardiology. 2017;137(4):256-260. doi: 10.1159/000471792. Epub 2017 May 12. Cardiology. 2017. PMID: 28494446
32 results