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Normal and altered pre-mRNA processing in the DMD gene.
Tuffery-Giraud S, Miro J, Koenig M, Claustres M. Tuffery-Giraud S, et al. Among authors: miro j. 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 severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.
Rouzier C, Le Guédard-Méreuze S, Fragaki K, Serre V, Miro J, Tuffery-Giraud S, Chaussenot A, Bannwarth S, Caruba C, Ostergaard E, Pellissier JF, Richelme C, Espil C, Chabrol B, Paquis-Flucklinger V. Rouzier C, et al. Among authors: miro j. J Med Genet. 2010 Oct;47(10):670-6. doi: 10.1136/jmg.2009.073445. Epub 2010 Aug 7. J Med Genet. 2010. PMID: 20693550 Free article.
FUBP1: a new protagonist in splicing regulation of the DMD gene.
Miro J, Laaref AM, Rofidal V, Lagrafeuille R, Hem S, Thorel D, Méchin D, Mamchaoui K, Mouly V, Claustres M, Tuffery-Giraud S. Miro J, et al. Nucleic Acids Res. 2015 Feb 27;43(4):2378-89. doi: 10.1093/nar/gkv086. Epub 2015 Feb 6. Nucleic Acids Res. 2015. PMID: 25662218 Free PMC article.
Should diffuse bronchiectasis still be considered a CFTR-related disorder?
Bergougnoux A, Viart V, Miro J, Bommart S, Molinari N, des Georges M, Claustres M, Chiron R, Taulan-Cadars M. Bergougnoux A, et al. Among authors: miro j. J Cyst Fibros. 2015 Sep;14(5):646-53. doi: 10.1016/j.jcf.2015.02.012. Epub 2015 Mar 18. J Cyst Fibros. 2015. PMID: 25797027 Free article.
1,415 results