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RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.
Zhou H, Rokach O, Feng L, Munteanu I, Mamchaoui K, Wilmshurst JM, Sewry C, Manzur AY, Pillay K, Mouly V, Duchen M, Jungbluth H, Treves S, Muntoni F. Zhou H, et al. Among authors: mamchaoui k. Hum Mutat. 2013 Jul;34(7):986-96. doi: 10.1002/humu.22326. Epub 2013 Apr 17. Hum Mutat. 2013. PMID: 23553787
Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders.
Mamchaoui K, Trollet C, Bigot A, Negroni E, Chaouch S, Wolff A, Kandalla PK, Marie S, Di Santo J, St Guily JL, Muntoni F, Kim J, Philippi S, Spuler S, Levy N, Blumen SC, Voit T, Wright WE, Aamiri A, Butler-Browne G, Mouly V. Mamchaoui K, et al. Skelet Muscle. 2011 Nov 1;1:34. doi: 10.1186/2044-5040-1-34. Skelet Muscle. 2011. PMID: 22040608 Free PMC article.
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders.
Wojtal D, Kemaladewi DU, Malam Z, Abdullah S, Wong TW, Hyatt E, Baghestani Z, Pereira S, Stavropoulos J, Mouly V, Mamchaoui K, Muntoni F, Voit T, Gonorazky HD, Dowling JJ, Wilson MD, Mendoza-Londono R, Ivakine EA, Cohn RD. Wojtal D, et al. Among authors: mamchaoui k. Am J Hum Genet. 2016 Jan 7;98(1):90-101. doi: 10.1016/j.ajhg.2015.11.012. Epub 2015 Dec 10. Am J Hum Genet. 2016. PMID: 26686765 Free PMC article.
Laminopathies disrupt epigenomic developmental programs and cell fate.
Perovanovic J, Dell'Orso S, Gnochi VF, Jaiswal JK, Sartorelli V, Vigouroux C, Mamchaoui K, Mouly V, Bonne G, Hoffman EP. Perovanovic J, et al. Among authors: mamchaoui k. Sci Transl Med. 2016 Apr 20;8(335):335ra58. doi: 10.1126/scitranslmed.aad4991. Sci Transl Med. 2016. PMID: 27099177 Free PMC article.
Quantitative Antisense Screening and Optimization for Exon 51 Skipping in Duchenne Muscular Dystrophy.
Echigoya Y, Lim KRQ, Trieu N, Bao B, Miskew Nichols B, Vila MC, Novak JS, Hara Y, Lee J, Touznik A, Mamchaoui K, Aoki Y, Takeda S, Nagaraju K, Mouly V, Maruyama R, Duddy W, Yokota T. Echigoya Y, et al. Among authors: mamchaoui k. Mol Ther. 2017 Nov 1;25(11):2561-2572. doi: 10.1016/j.ymthe.2017.07.014. Epub 2017 Jul 28. Mol Ther. 2017. PMID: 28865998 Free PMC article.
A novel long non-coding RNA Myolinc regulates myogenesis through TDP-43 and Filip1.
Militello G, Hosen MR, Ponomareva Y, Gellert P, Weirick T, John D, Hindi SM, Mamchaoui K, Mouly V, Döring C, Zhang L, Nakamura M, Kumar A, Fukada SI, Dimmeler S, Uchida S. Militello G, et al. Among authors: mamchaoui k. J Mol Cell Biol. 2018 Apr 1;10(2):102-117. doi: 10.1093/jmcb/mjy025. J Mol Cell Biol. 2018. PMID: 29618024 Free PMC article.
89 results