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Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
Ben Yaou R, Navarro C, Quijano-Roy S, Bertrand AT, Massart C, De Sandre-Giovannoli A, Cadiñanos J, Mamchaoui K, Butler-Browne G, Estournet B, Richard P, Barois A, Lévy N, Bonne G. Ben Yaou R, et al. Among authors: mamchaoui k. Eur J Hum Genet. 2011 Jun;19(6):647-54. doi: 10.1038/ejhg.2010.256. Epub 2011 Jan 26. Eur J Hum Genet. 2011. PMID: 21267004 Free PMC article.
Shift from extracellular signal-regulated kinase to AKT/cAMP response element-binding protein pathway increases survival-motor-neuron expression in spinal-muscular-atrophy-like mice and patient cells.
Branchu J, Biondi O, Chali F, Collin T, Leroy F, Mamchaoui K, Makoukji J, Pariset C, Lopes P, Massaad C, Chanoine C, Charbonnier F. Branchu J, et al. Among authors: mamchaoui k. J Neurosci. 2013 Mar 6;33(10):4280-94. doi: 10.1523/JNEUROSCI.2728-12.2013. J Neurosci. 2013. PMID: 23467345 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.
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.
84 results