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Correction: Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.
Runge K, Mathieu R, Bugeon S, Lafi S, Beurrier C, Sahu S, Schaller F, Loubat A, Herault L, Gaillard S, Pallesi-Pocachard E, Montheil A, Bosio A, Rosenfeld JA, Hudson E, Lindstrom K, Mercimek-Andrews S, Jeffries L, van Haeringen A, Vanakker O, Van Hecke A, Amrom D, Küry S, Ratner C, Jethva R, Gamble C, Jacq B, Fasano L, Santpere G, Lorente-Galdos B, Sestan N, Gelot A, Giacuzz S, Goebbels S, Represa A, Cardoso C, Cremer H, de Chevigny A. Runge K, et al. Among authors: represa a. Mol Psychiatry. 2021 Dec;26(12):7852. doi: 10.1038/s41380-021-01234-7. Mol Psychiatry. 2021. PMID: 34282265 Free PMC article. No abstract available.
Causes and consequences of gray matter heterotopia.
Watrin F, Manent JB, Cardoso C, Represa A. Watrin F, et al. Among authors: represa a. CNS Neurosci Ther. 2015 Feb;21(2):112-22. doi: 10.1111/cns.12322. Epub 2014 Sep 2. CNS Neurosci Ther. 2015. PMID: 25180909 Free PMC article. Review.
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.
Conti V, Carabalona A, Pallesi-Pocachard E, Leventer RJ, Schaller F, Parrini E, Deparis AA, Watrin F, Buhler E, Novara F, Lise S, Pagnamenta AT, Kini U, Taylor JC, Zuffardi O, Represa A, Keays DA, Guerrini R, Falace A, Cardoso C. Conti V, et al. Among authors: represa a. J Vis Exp. 2017 Dec 1;(130):53570. doi: 10.3791/53570. J Vis Exp. 2017. PMID: 29286390 Free PMC article.
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.
Pelorosso C, Watrin F, Conti V, Buhler E, Gelot A, Yang X, Mei D, McEvoy-Venneri J, Manent JB, Cetica V, Ball LL, Buccoliero AM, Vinck A, Barba C, Gleeson JG, Guerrini R, Represa A. Pelorosso C, et al. Among authors: represa a. Hum Mol Genet. 2019 Nov 15;28(22):3755-3765. doi: 10.1093/hmg/ddz194. Hum Mol Genet. 2019. PMID: 31411685 Free PMC article.
139 results