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Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice.
Dominguez E, Marais T, Chatauret N, Benkhelifa-Ziyyat S, Duque S, Ravassard P, Carcenac R, Astord S, Pereira de Moura A, Voit T, Barkats M. Dominguez E, et al. Among authors: duque s. Hum Mol Genet. 2011 Feb 15;20(4):681-93. doi: 10.1093/hmg/ddq514. Epub 2010 Nov 30. Hum Mol Genet. 2011. PMID: 21118896
The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.
Maystadt I, Rezsöhazy R, Barkats M, Duque S, Vannuffel P, Remacle S, Lambert B, Najimi M, Sokal E, Munnich A, Viollet L, Verellen-Dumoulin C. Maystadt I, et al. Among authors: duque s. Am J Hum Genet. 2007 Jul;81(1):67-76. doi: 10.1086/518900. Epub 2007 May 16. Am J Hum Genet. 2007. PMID: 17564964 Free PMC article.
Mild SMN missense alleles are only functional in the presence of SMN2 in mammals.
Iyer CC, Corlett KM, Massoni-Laporte A, Duque SI, Madabusi N, Tisdale S, McGovern VL, Le TT, Zaworski PG, Arnold WD, Pellizzoni L, Burghes AHM. Iyer CC, et al. Among authors: duque si. Hum Mol Genet. 2018 Oct 1;27(19):3404-3416. doi: 10.1093/hmg/ddy251. Hum Mol Genet. 2018. PMID: 29982416 Free PMC article.
SMN Blood Levels in a Porcine Model of Spinal Muscular Atrophy.
Iyer CC, Wang X, Renusch SR, Duque SI, Wehr AM, Mo XM, McGovern VL, Arnold WD, Burghes AH, Kolb SJ. Iyer CC, et al. J Neuromuscul Dis. 2017;4(1):59-66. doi: 10.3233/JND-170209. J Neuromuscul Dis. 2017. PMID: 28269795 Free PMC article.
106 results