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Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells.
Massouridès E, Polentes J, Mangeot PE, Mournetas V, Nectoux J, Deburgrave N, Nusbaum P, Leturcq F, Popplewell L, Dickson G, Wein N, Flanigan KM, Peschanski M, Chelly J, Pinset C. Massouridès E, et al. Among authors: deburgrave n. Skelet Muscle. 2015 Nov 14;5:40. doi: 10.1186/s13395-015-0062-6. eCollection 2015. Skelet Muscle. 2015. PMID: 26568816 Free PMC article.
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene.
Béroud C, Carrié A, Beldjord C, Deburgrave N, Llense S, Carelle N, Peccate C, Cuisset JM, Pandit F, Carré-Pigeon F, Mayer M, Bellance R, Récan D, Chelly J, Kaplan JC, Leturcq F. Béroud C, et al. Among authors: deburgrave n. Neuromuscul Disord. 2004 Jan;14(1):10-8. doi: 10.1016/s0960-8966(03)00169-x. Neuromuscul Disord. 2004. PMID: 14659407
Revised spectrum of mutations in sarcoglycanopathies.
Trabelsi M, Kavian N, Daoud F, Commere V, Deburgrave N, Beugnet C, Llense S, Barbot JC, Vasson A, Kaplan JC, Leturcq F, Chelly J. Trabelsi M, et al. Among authors: deburgrave n. Eur J Hum Genet. 2008 Jul;16(7):793-803. doi: 10.1038/ejhg.2008.9. Epub 2008 Feb 20. Eur J Hum Genet. 2008. PMID: 18285821
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.
Daoud F, Angeard N, Demerre B, Martie I, Benyaou R, Leturcq F, Cossée M, Deburgrave N, Saillour Y, Tuffery S, Urtizberea A, Toutain A, Echenne B, Frischman M, Mayer M, Desguerre I, Estournet B, Réveillère C, Penisson-Besnier, Cuisset JM, Kaplan JC, Héron D, Rivier F, Chelly J. Daoud F, et al. Among authors: deburgrave n. Hum Mol Genet. 2009 Oct 15;18(20):3779-94. doi: 10.1093/hmg/ddp320. Epub 2009 Jul 14. Hum Mol Genet. 2009. PMID: 19602481
Miyoshi-like distal myopathy with mutations in anoctamin 5 gene.
Bouquet F, Cossée M, Béhin A, Deburgrave N, Romero N, Leturcq F, Eymard B. Bouquet F, et al. Among authors: deburgrave n. Rev Neurol (Paris). 2012 Feb;168(2):135-41. doi: 10.1016/j.neurol.2011.10.005. Epub 2012 Feb 13. Rev Neurol (Paris). 2012. PMID: 22336395
Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.
Vasson A, Leroux C, Orhant L, Boimard M, Toussaint A, Leroy C, Commere V, Ghiotti T, Deburgrave N, Saillour Y, Atlan I, Fouveaut C, Beldjord C, Valleix S, Leturcq F, Dodé C, Bienvenu T, Chelly J, Cossée M. Vasson A, et al. Among authors: deburgrave n. Eur J Hum Genet. 2013 Sep;21(9):977-87. doi: 10.1038/ejhg.2012.279. Epub 2013 Jan 23. Eur J Hum Genet. 2013. PMID: 23340513 Free PMC article.
When a mid-intronic variation of DMD gene creates an ESE site.
Trabelsi M, Beugnet C, Deburgrave N, Commere V, Orhant L, Leturcq F, Chelly J. Trabelsi M, et al. Among authors: deburgrave n. Neuromuscul Disord. 2014 Dec;24(12):1111-7. doi: 10.1016/j.nmd.2014.07.003. Epub 2014 Aug 1. Neuromuscul Disord. 2014. PMID: 25193336
27 results