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Page 1
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
Verdura E, Rodríguez-Palmero A, Vélez-Santamaria V, Planas-Serra L, de la Calle I, Raspall-Chaure M, Roubertie A, Benkirane M, Saettini F, Pavinato L, Mandrile G, O'Leary M, O'Heir E, Barredo E, Chacón A, Michaud V, Goizet C, Ruiz M, Schlüter A, Rouvet I, Sala-Coromina J, Fossati C, Iascone M, Canonico F, Marcé-Grau A, de Souza P, Adams DR, Casasnovas C, Rehm HL, Mefford HC, González Gutierrez-Solana L, Brusco A, Koenig M, Macaya A, Pujol A. Verdura E, et al. Among authors: gonzalez gutierrez solana l. Brain. 2021 Oct 22;144(9):2659-2669. doi: 10.1093/brain/awab124. Brain. 2021. PMID: 34415322 Free PMC article.
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
Marti-Sanchez L, Baide-Mairena H, Marcé-Grau A, Pons R, Skouma A, López-Laso E, Sigatullina M, Rizzo C, Semeraro M, Martinelli D, Carrozzo R, Dionisi-Vici C, González-Gutiérrez-Solana L, Correa-Vela M, Ortigoza-Escobar JD, Sánchez-Montañez Á, Vazquez É, Delgado I, Aguilera-Albesa S, Yoldi ME, Ribes A, Tort F, Pollini L, Galosi S, Leuzzi V, Tolve M, Pérez-Gay L, Aldamiz-Echevarría L, Del Toro M, Arranz A, Roelens F, Urreizti R, Artuch R, Macaya A, Pérez-Dueñas B. Marti-Sanchez L, et al. Among authors: gonzalez gutierrez solana l. J Inherit Metab Dis. 2021 Mar;44(2):401-414. doi: 10.1002/jimd.12288. Epub 2020 Aug 16. J Inherit Metab Dis. 2021. PMID: 32677093
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
Mirchi A, Guay SP, Tran LT, Wolf NI, Vanderver A, Brais B, Sylvain M, Pohl D, Rossignol E, Saito M, Moutton S, González-Gutiérrez-Solana L, Thiffault I, Kruer MC, Moron DG, Kauffman M, Goizet C, Sztriha L, Glamuzina E, Melançon SB, Naidu S, Retrouvey JM, Lacombe S, Bernardino-Cuesta B, De Bie I, Bernard G. Mirchi A, et al. Among authors: gonzalez gutierrez solana l. J Med Genet. 2023 Oct;60(10):1026-1034. doi: 10.1136/jmg-2023-109223. Epub 2023 May 16. J Med Genet. 2023. PMID: 37197783 Free PMC article.
Immune-mediated mechanisms in the pathogenesis of Hopkins syndrome.
Cantarín-Extremera V, González-Gutiérrez-Solana L, Ramírez-Orellana M, López-Marín L, Duat-Rodríguez A, Ruíz-Falcó-Rojas ML. Cantarín-Extremera V, et al. Pediatr Neurol. 2012 Nov;47(5):373-4. doi: 10.1016/j.pediatrneurol.2012.08.006. Pediatr Neurol. 2012. PMID: 23044022
Autoimmune post-herpes simplex encephalitis of adults and teenagers.
Armangue T, Moris G, Cantarín-Extremera V, Conde CE, Rostasy K, Erro ME, Portilla-Cuenca JC, Turón-Viñas E, Málaga I, Muñoz-Cabello B, Torres-Torres C, Llufriu S, González-Gutiérrez-Solana L, González G, Casado-Naranjo I, Rosenfeld M, Graus F, Dalmau J; Spanish Prospective Multicentric Study of Autoimmunity in Herpes Simplex Encephalitis. Armangue T, et al. Neurology. 2015 Nov 17;85(20):1736-43. doi: 10.1212/WNL.0000000000002125. Epub 2015 Oct 21. Neurology. 2015. PMID: 26491084 Free PMC article.
Neurofibromatosis type 1 associated with moyamoya syndrome in children.
Duat-Rodríguez A, Carceller Lechón F, López Pino MÁ, Rodríguez Fernández C, González-Gutiérrez-Solana L. Duat-Rodríguez A, et al. Pediatr Neurol. 2014 Jan;50(1):96-8. doi: 10.1016/j.pediatrneurol.2013.04.007. Epub 2013 Oct 23. Pediatr Neurol. 2014. PMID: 24269170
Classic Ketogenic Diet and Modified Atkins Diet in SLC2A1 Positive and Negative Patients with Suspected GLUT1 Deficiency Syndrome: A Single Center Analysis of 18 Cases.
Ruiz Herrero J, Cañedo Villarroya E, González Gutiérrez-Solana L, García Alcolea B, Gómez Fernández B, Puerta Macfarland LA, Pedrón-Giner C. Ruiz Herrero J, et al. Among authors: gonzalez gutierrez solana l. Nutrients. 2021 Mar 4;13(3):840. doi: 10.3390/nu13030840. Nutrients. 2021. PMID: 33806661 Free PMC article.
29 results