Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

35 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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: urciuolo a. 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.
Three novel collagen VI chains with high homology to the alpha3 chain.
Gara SK, Grumati P, Urciuolo A, Bonaldo P, Kobbe B, Koch M, Paulsson M, Wagener R. Gara SK, et al. Among authors: urciuolo a. J Biol Chem. 2008 Apr 18;283(16):10658-70. doi: 10.1074/jbc.M709540200. Epub 2008 Feb 13. J Biol Chem. 2008. PMID: 18276594 Free article.
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: urciuolo a. 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: urciuolo a. Neurology. 2009 Dec 1;73(22):1883-91. doi: 10.1212/WNL.0b013e3181c3fd2a. Neurology. 2009. PMID: 19949035
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies.
Bovolenta M, Neri M, Martoni E, Urciuolo A, Sabatelli P, Fabris M, Grumati P, Mercuri E, Bertini E, Merlini L, Bonaldo P, Ferlini A, Gualandi F. Bovolenta M, et al. Among authors: urciuolo a. BMC Med Genet. 2010 Mar 19;11:44. doi: 10.1186/1471-2350-11-44. BMC Med Genet. 2010. PMID: 20302629 Free PMC article.
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: urciuolo a. BMC Med Genet. 2013 Jun 5;14:59. doi: 10.1186/1471-2350-14-59. BMC Med Genet. 2013. PMID: 23738969 Free PMC article.
35 results