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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. Among authors: malaga i. Int J Mol Sci. 2021 Nov 23;22(23):12656. doi: 10.3390/ijms222312656. Int J Mol Sci. 2021. PMID: 34884460 Free PMC article.
[New anti-epileptic drugs in Paediatrics].
Málaga I, Sánchez-Carpintero R, Roldán S, Ramos-Lizana J, García-Peñas JJ. Málaga I, et al. An Pediatr (Engl Ed). 2019 Dec;91(6):415.e1-415.e10. doi: 10.1016/j.anpedi.2019.09.008. Epub 2019 Nov 8. An Pediatr (Engl Ed). 2019. PMID: 31708334 Free article. Spanish.
Pediatric anti-N-methyl-D-aspartate receptor encephalitis-clinical analysis and novel findings in a series of 20 patients.
Armangue T, Titulaer MJ, Málaga I, Bataller L, Gabilondo I, Graus F, Dalmau J; Spanish Anti-N-methyl-D-Aspartate Receptor (NMDAR) Encephalitis Work Group. Armangue T, et al. Among authors: malaga i. J Pediatr. 2013 Apr;162(4):850-856.e2. doi: 10.1016/j.jpeds.2012.10.011. Epub 2012 Nov 16. J Pediatr. 2013. PMID: 23164315 Free PMC article.
Herpes simplex virus encephalitis is a trigger of brain autoimmunity.
Armangue T, Leypoldt F, Málaga I, Raspall-Chaure M, Marti I, Nichter C, Pugh J, Vicente-Rasoamalala M, Lafuente-Hidalgo M, Macaya A, Ke M, Titulaer MJ, Höftberger R, Sheriff H, Glaser C, Dalmau J. Armangue T, et al. Among authors: malaga i. Ann Neurol. 2014 Feb;75(2):317-23. doi: 10.1002/ana.24083. Epub 2014 Feb 25. Ann Neurol. 2014. PMID: 24318406 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. Among authors: malaga i. Neuropediatrics. 2021 Jun;52(3):192-200. doi: 10.1055/s-0041-1725008. Epub 2021 Mar 3. Neuropediatrics. 2021. PMID: 33657631
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Martinez-Cayuelas E, Blanco-Kelly F, Lopez-Grondona F, Swafiri ST, Lopez-Rodriguez R, Losada-Del Pozo R, Mahillo-Fernandez I, Moreno B, Rodrigo-Moreno M, Casas-Alba D, Lopez-Gonzalez A, García-Miñaúr S, Ángeles Mori M, Pacio-Minguez M, Rikeros-Orozco E, Santos-Simarro F, Cruz-Rojo J, Quesada-Espinosa JF, Sanchez-Calvin MT, Sanchez-Del Pozo J, Bernado Fonz R, Isidoro-Garcia M, Ruiz-Ayucar I, Alvarez-Mora MI, Blanco-Lago R, De Azua B, Eiris J, Garcia-Peñas JJ, Gil-Fournier B, Gomez-Lado C, Irazabal N, Lopez-Gonzalez V, Madrigal I, Malaga I, Martinez-Menendez B, Ramiro-Leon S, Garcia-Hoyos M, Prieto-Matos P, Lopez-Pison J, Aguilera-Albesa S, Alvarez S, Fernández-Jaén A, Llano-Rivas I, Gener-Querol B, Ayuso C, Arteche-Lopez A, Palomares-Bralo M, Cueto-González A, Valenzuela I, Martinez-Monseny A, Lorda-Sanchez I, Almoguera B. Martinez-Cayuelas E, et al. Among authors: malaga i. J Med Genet. 2023 Jul;60(7):644-654. doi: 10.1136/jmg-2022-108632. Epub 2022 Nov 29. J Med Genet. 2023. PMID: 36446582
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome.
Quijada-Fraile P, O'Callaghan M, Martín-Hernández E, Montero R, Garcia-Cazorla À, de Aragón AM, Muchart J, Málaga I, Pardo R, García-Gonzalez P, Jou C, Montoya J, Emperador S, Ruiz-Pesini E, Arenas J, Martin MA, Ormazabal A, Pineda M, García-Silva MT, Artuch R. Quijada-Fraile P, et al. Among authors: malaga i. Orphanet J Rare Dis. 2014 Dec 24;9:217. doi: 10.1186/s13023-014-0217-2. Orphanet J Rare Dis. 2014. PMID: 25539952 Free PMC article.
35 results