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Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease.
Oyarzabal A, Xiol C, Castells AA, Grau C, O'Callaghan M, Fernández G, Alcántara S, Pineda M, Armstrong J, Altafaj X, García-Cazorla A. Oyarzabal A, et al. Among authors: armstrong j. Int J Mol Sci. 2020 Jan 14;21(2):518. doi: 10.3390/ijms21020518. Int J Mol Sci. 2020. PMID: 31947619 Free PMC article.
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Pascual-Alonso A, Blasco L, Vidal S, Gean E, Rubio P, O'Callaghan M, Martínez-Monseny AF, Castells AA, Xiol C, Català V, Brandi N, Pacheco P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S, Armstrong J. Pascual-Alonso A, et al. Among authors: armstrong j. Clin Genet. 2020 Apr;97(4):610-620. doi: 10.1111/cge.13718. Epub 2020 Feb 23. Clin Genet. 2020. PMID: 32043567
MECP2-Related Disorders in Males.
Pascual-Alonso A, Martínez-Monseny AF, Xiol C, Armstrong J. Pascual-Alonso A, et al. Among authors: armstrong j. Int J Mol Sci. 2021 Sep 4;22(17):9610. doi: 10.3390/ijms22179610. Int J Mol Sci. 2021. PMID: 34502518 Free PMC article. Review.
Analysis of the circRNA and T-UCR populations identifies convergent pathways in mouse and human models of Rett syndrome.
Siqueira E, Obiols-Guardia A, Jorge-Torres OC, Oliveira-Mateos C, Soler M, Ramesh-Kumar D, Setién F, van Rossum D, Pascual-Alonso A, Xiol C, Ivan C, Shimizu M, Armstrong J, Calin GA, Pasterkamp RJ, Esteller M, Guil S. Siqueira E, et al. Among authors: armstrong j. Mol Ther Nucleic Acids. 2021 Dec 22;27:621-644. doi: 10.1016/j.omtn.2021.12.030. eCollection 2022 Mar 8. Mol Ther Nucleic Acids. 2021. PMID: 35036070 Free PMC article.
2,569 results