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Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
Tuffery-Giraud S, Béroud C, Leturcq F, Yaou RB, Hamroun D, Michel-Calemard L, Moizard MP, Bernard R, Cossée M, Boisseau P, Blayau M, Creveaux I, Guiochon-Mantel A, de Martinville B, Philippe C, Monnier N, Bieth E, Khau Van Kien P, Desmet FO, Humbertclaude V, Kaplan JC, Chelly J, Claustres M. Tuffery-Giraud S, et al. Hum Mutat. 2009 Jun;30(6):934-45. doi: 10.1002/humu.20976. Hum Mutat. 2009. PMID: 19367636
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.
Béroud C, Tuffery-Giraud S, Matsuo M, Hamroun D, Humbertclaude V, Monnier N, Moizard MP, Voelckel MA, Calemard LM, Boisseau P, Blayau M, Philippe C, Cossée M, Pagès M, Rivier F, Danos O, Garcia L, Claustres M. Béroud C, et al. Hum Mutat. 2007 Feb;28(2):196-202. doi: 10.1002/humu.20428. Hum Mutat. 2007. PMID: 17041910
Normal and altered pre-mRNA processing in the DMD gene.
Tuffery-Giraud S, Miro J, Koenig M, Claustres M. Tuffery-Giraud S, et al. Hum Genet. 2017 Sep;136(9):1155-1172. doi: 10.1007/s00439-017-1820-9. Epub 2017 Jun 9. Hum Genet. 2017. PMID: 28597072 Review.
The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.
Tuffery-Giraud S, Saquet C, Chambert S, Echenne B, Marie Cuisset J, Rivier F, Cossée M, Philippe C, Monnier N, Bieth E, Recan D, Antoinette Voelckel M, Perelman S, Lambert JC, Malcolm S, Claustres M. Tuffery-Giraud S, et al. Neuromuscul Disord. 2004 Oct;14(10):650-8. doi: 10.1016/j.nmd.2004.05.002. Neuromuscul Disord. 2004. PMID: 15351422
57 results