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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2009 | 2 |
2010 | 1 |
2012 | 1 |
2024 | 0 |
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4 results
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Page 1
Autosomal recessive Bethlem myopathy.
Neurology. 2009 Dec 1;73(22):1883-91. doi: 10.1212/WNL.0b013e3181c3fd2a.
Neurology. 2009.
PMID: 19949035
Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy.
Gualandi F, Manzati E, Sabatelli P, Passarelli C, Bovolenta M, Pellegrini C, Perrone D, Squarzoni S, Pegoraro E, Bonaldo P, Ferlini A.
Gualandi F, et al.
Hum Gene Ther. 2012 Dec;23(12):1313-8. doi: 10.1089/hum.2012.109. Epub 2012 Nov 6.
Hum Gene Ther. 2012.
PMID: 22992134
Free PMC article.
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Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.
Martoni E, Urciuolo A, Sabatelli P, Fabris M, Bovolenta M, Neri M, Grumati P, D'Amico A, Pane M, Mercuri E, Bertini E, Merlini L, Bonaldo P, Ferlini A, Gualandi F.
Martoni E, et al.
Hum Mutat. 2009 May;30(5):E662-72. doi: 10.1002/humu.21022.
Hum Mutat. 2009.
PMID: 19309692
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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.
BMC Med Genet. 2010 Mar 19;11:44. doi: 10.1186/1471-2350-11-44.
BMC Med Genet. 2010.
PMID: 20302629
Free PMC article.
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