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Page 1
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Juliá-Palacios N, Olivella M, Sigatullina Bondarenko M, Ibáñez-Micó S, Muñoz-Cabello B, Alonso-Luengo O, Soto-Insuga V, García-Navas D, Cuesta-Herraiz L, Andreo-Lillo P, Aguilera-Albesa S, Hedrera-Fernández A, González Alguacil E, Sánchez-Carpintero R, Martín Del Valle F, Jiménez González E, Cean Cabrera L, Medina-Rivera I, Perez-Ordoñez M, Colomé R, Lopez L, Engracia Cazorla M, Fornaguera M, Ormazabal A, Alonso-Colmenero I, Illescas KS, Balsells-Mejía S, Mari-Vico R, Duffo Viñas M, Cappuccio G, Terrone G, Romano R, Manti F, Mastrangelo M, Alfonsi C, de Siqueira Barros B, Nizon M, Gjerulfsen CE, Muro VL, Karall D, Zeiner F, Masnada S, Peterlongo I, Oyarzábal A, Santos-Gómez A, Altafaj X, García-Cazorla Á. Juliá-Palacios N, et al. Among authors: hedrera fernandez a. Brain. 2024 May 3;147(5):1653-1666. doi: 10.1093/brain/awae041. Brain. 2024. PMID: 38380699 Clinical Trial.
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Sanchis-Juan A, Megy K, Stephens J, Armirola Ricaurte C, Dewhurst E, Low K, French CE, Grozeva D, Stirrups K, Erwood M, McTague A, Penkett CJ, Shamardina O, Tuna S, Daugherty LC, Gleadall N, Duarte ST, Hedrera-Fernández A, Vogt J, Ambegaonkar G, Chitre M, Josifova D, Kurian MA, Parker A, Rankin J, Reid E, Wakeling E, Wassmer E, Woods CG; NIHR BioResource; Raymond FL, Carss KJ. Sanchis-Juan A, et al. Among authors: hedrera fernandez a. Am J Hum Genet. 2023 Aug 3;110(8):1343-1355. doi: 10.1016/j.ajhg.2023.07.007. Am J Hum Genet. 2023. PMID: 37541188 Free PMC article.
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.
Justel M, Jou C, Sariego-Jamardo A, Juliá-Palacios NA, Ortez C, Poch ML, Hedrera-Fernandez A, Gomez-Martin H, Codina A, Dominguez-Carral J, Muxart J, Hernández-Laín A, Vila-Bedmar S, Zulaica M, Cancho-Candela R, Castro MDC, de la Osa-Langreo A, Peña-Valenceja A, Marcos-Vadillo E, Prieto-Matos P, Pascual-Pascual SI, López de Munain A, Camacho A, Estevez-Arias B, Musokhranova U, Olivella M, Oyarzábal A, Jimenez-Mallebrera C, Domínguez-González C, Nascimento A, García-Cazorla À, Natera-de Benito D. Justel M, et al. Among authors: hedrera fernandez a. J Med Genet. 2023 Oct;60(10):965-973. doi: 10.1136/jmg-2022-109132. Epub 2023 May 16. J Med Genet. 2023. PMID: 37197784 Free PMC article.
Opsoclonus-myoclonus syndrome: Clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort.
Cantarín-Extremera V, Jiménez-Legido M, Aguilera-Albesa S, Hedrera-Fernández A, Arrabal-Fernández L, Gorría-Redondo N, Martí-Carrera I, Yoldi-Pedtri ME, Sagaseta-De Ilúrdoz M, González-Gutiérrez-Solana L. Cantarín-Extremera V, et al. Among authors: hedrera fernandez a. Neurologia (Engl Ed). 2023 Mar;38(2):93-105. doi: 10.1016/j.nrleng.2020.04.030. Epub 2022 Nov 15. Neurologia (Engl Ed). 2023. PMID: 36396095 Free article.
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. Among authors: hedrera fernandez a. Int J Mol Sci. 2021 Nov 23;22(23):12656. doi: 10.3390/ijms222312656. Int J Mol Sci. 2021. PMID: 34884460 Free PMC article.
Outbreak of Enterovirus Infection with Neurological Presentations in a Pediatric Population in Northern Spain: A Clinical Observational Study.
Hedrera-Fernandez A, Cancho-Candela R, Arribas-Arceredillo M, Garrido-Barbero M, Conejo-Moreno D, Sariego-Jamardo A, Perez-Poyato MS, Rodriguez-Fernandez C, Del Villar-Guerra P, Bermejo-Arnedo I, Peña-Valenceja A, Maldonado-Ruiz E, Ortiz-Madinaveitia S, Camina-Gutierrez AB, Blanco-Lago R, Malaga I. Hedrera-Fernandez A, et al. Neuropediatrics. 2021 Jun;52(3):192-200. doi: 10.1055/s-0041-1725008. Epub 2021 Mar 3. Neuropediatrics. 2021. PMID: 33657631
Opsoclonus-myoclonus syndrome: clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort.
Cantarín-Extremera V, Jiménez-Legido M, Aguilera-Albesa S, Hedrera-Fernández A, Arrabal-Fernández L, Gorría-Redondo N, Martí-Carrera I, Yoldi-Pedtri ME, Sagaseta-De Ilúrdoz M, González-Gutiérrez-Solana L. Cantarín-Extremera V, et al. Among authors: hedrera fernandez a. Neurologia (Engl Ed). 2020 Jul 8:S0213-4853(20)30137-7. doi: 10.1016/j.nrl.2020.04.025. Online ahead of print. Neurologia (Engl Ed). 2020. PMID: 32653103 Free article. English, Spanish.
[Symptomatic epilepsy with Panayiotopoulos-like onset: the importance of neuroimaging].
Oreña-Ansorena VA, Blanco-Lago R, Hedrera-Fernández A, Bonifacio M, Santoveña-González L, Quesada-Colloto P, Málaga-Diéguez I. Oreña-Ansorena VA, et al. Among authors: hedrera fernandez a. Rev Neurol. 2020 Feb 16;70(4):134-138. doi: 10.33588/rn.7004.2019493. Rev Neurol. 2020. PMID: 32043535 Free article. Spanish.
14 results