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Similar articles for PMID: 30548231

98 results

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The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity.
Montani C, Ramos-Brossier M, Ponzoni L, Gritti L, Cwetsch AW, Braida D, Saillour Y, Terragni B, Mantegazza M, Sala M, Verpelli C, Billuart P, Sala C. Montani C, et al. J Neurosci. 2017 Jul 12;37(28):6606-6627. doi: 10.1523/JNEUROSCI.3775-16.2017. Epub 2017 Jun 2. J Neurosci. 2017. PMID: 28576939 Free PMC article.
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.
Ramos-Brossier M, Montani C, Lebrun N, Gritti L, Martin C, Seminatore-Nole C, Toussaint A, Moreno S, Poirier K, Dorseuil O, Chelly J, Hackett A, Gecz J, Bieth E, Faudet A, Heron D, Frank Kooy R, Loeys B, Humeau Y, Sala C, Billuart P. Ramos-Brossier M, et al. Hum Mol Genet. 2015 Feb 15;24(4):1106-18. doi: 10.1093/hmg/ddu523. Epub 2014 Oct 9. Hum Mol Genet. 2015. PMID: 25305082 Free PMC article.
A postsynaptic signaling pathway that may account for the cognitive defect due to IL1RAPL1 mutation.
Pavlowsky A, Gianfelice A, Pallotto M, Zanchi A, Vara H, Khelfaoui M, Valnegri P, Rezai X, Bassani S, Brambilla D, Kumpost J, Blahos J, Roux MJ, Humeau Y, Chelly J, Passafaro M, Giustetto M, Billuart P, Sala C. Pavlowsky A, et al. Curr Biol. 2010 Jan 26;20(2):103-15. doi: 10.1016/j.cub.2009.12.030. Epub 2010 Jan 21. Curr Biol. 2010. PMID: 20096586 Free article.
Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement.
Laino L, Bottillo I, Piedimonte C, Bernardini L, Torres B, Grammatico B, Bargiacchi S, Mulargia C, Calvani M, Cardona F, Castori M, Grammatico P. Laino L, et al. Eur J Paediatr Neurol. 2016 Nov;20(6):971-976. doi: 10.1016/j.ejpn.2016.07.003. Epub 2016 Jul 11. Eur J Paediatr Neurol. 2016. PMID: 27470653
98 results