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Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.
Santos-Gómez A, Miguez-Cabello F, Juliá-Palacios N, García-Navas D, Soto-Insuga V, García-Peñas JJ, Fuentes P, Ibáñez-Micó S, Cuesta L, Cancho R, Andreo-Lillo P, Gutiérrez-Aguilar G, Alonso-Luengo O, Málaga I, Hedrera-Fernández A, García-Cazorla À, Soto D, Olivella M, Altafaj X. Santos-Gómez A, et al. Int J Mol Sci. 2021 Nov 23;22(23):12656. doi: 10.3390/ijms222312656. Int J Mol Sci. 2021. PMID: 34884460 Free PMC article.
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
Sánchez-Lijarcio O, Yubero D, Leal F, Couce ML, González Gutiérrez-Solana L, López-Laso E, García-Cazorla À, Pías-Peleteiro L, de Azua Brea B, Ibáñez-Micó S, Mateo-Martínez G, Troncoso-Schifferli M, Witting-Enriquez S, Ugarte M, Artuch R, Pérez B. Sánchez-Lijarcio O, et al. Clin Genet. 2022 Jul;102(1):40-55. doi: 10.1111/cge.14138. Epub 2022 Apr 15. Clin Genet. 2022. PMID: 35388452 Free PMC article.
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
Batllori M, Molero-Luis M, Arrabal L, Heras JL, Fernandez-Ramos JA, Gutiérrez-Solana LG, Ibáñez-Micó S, Domingo R, Campistol J, Ormazabal A, Sedel F, Opladen T, Zouvelou B, Pons R, Garcia-Cazorla A, Lopez-Laso E, Artuch R. Batllori M, et al. Sci Rep. 2017 Nov 7;7(1):14675. doi: 10.1038/s41598-017-15063-8. Sci Rep. 2017. PMID: 29116116 Free PMC article.
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
Medico Salsench E, Maroofian R, Deng R, Lanko K, Nikoncuk A, Pérez B, Sánchez-Lijarcio O, Ibáñez-Mico S, Wojcik A, Vargas M, Abbas Al-Sannaa N, Girgis MY, Silveira TRD, Bauer P, Schroeder A, Fong CT, Begtrup A, Babaei M, Toosi MB, Ashrafzadeh F, Imannezhad S, Doosti M, Ahangari N, Najarzadeh Torbati P, Ghayoor Karimiani E, Murphy D, Cali E, Kaya IH, AlMuhaizea M, Colak D, Cardona-Londoño KJ, Arold ST, Houlden H, Bertoli-Avella A, Kaya N, Barakat TS. Medico Salsench E, et al. Brain. 2021 Nov 29;144(10):e85. doi: 10.1093/brain/awab297. Brain. 2021. PMID: 34373908 Free PMC article. No abstract available.
Efficacy and tolerability of lacosamide in the concomitant treatment of 130 patients under 16 years of age with refractory epilepsy: a prospective, open-label, observational, multicenter study in Spain.
Casas-Fernández C, Martínez-Bermejo A, Rufo-Campos M, Smeyers-Durá P, Herranz-Fernández JL, Ibáñez-Micó S, Campistol-Plana J, Alarcón-Martínez H, Campos-Castelló J. Casas-Fernández C, et al. Drugs R D. 2012 Dec 1;12(4):187-97. doi: 10.2165/11636260-000000000-00000. Drugs R D. 2012. PMID: 23193979 Free PMC article. Clinical Trial.
[Level of training in autistic spectrum disorders among hospital paediatricians].
Martínez-Cayuelas E, Ibáñez-Micó S, Ceán-Cabrera L, Domingo-Jiménez R, Alarcón-Martínez H, Martínez-Salcedo E. Martínez-Cayuelas E, et al. An Pediatr (Barc). 2017 Jun;86(6):329-336. doi: 10.1016/j.anpedi.2016.05.005. Epub 2016 Jun 17. An Pediatr (Barc). 2017. PMID: 27325257 Free article. Spanish.
Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy.
Araújo-Vilar D, Domingo-Jiménez R, Ruibal Á, Aguiar P, Ibáñez-Micó S, Garrido-Pumar M, Martínez-Olmos MÁ, López-Soler C, Guillín-Amarelle C, González-Rodríguez M, Rodríguez-Núñez A, Álvarez-Escudero J, Liñares-Paz M, González-Méndez B, Rodríguez-García S, Sánchez-Iglesias S. Araújo-Vilar D, et al. Eur J Hum Genet. 2018 Mar;26(3):396-406. doi: 10.1038/s41431-017-0052-8. Epub 2018 Jan 24. Eur J Hum Genet. 2018. PMID: 29367704 Free PMC article.
37 results