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An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolomé MT, Aerssens P, Augoustides-Savvapoulou P, Baric I, Baumann M, Bonafé L, Chabrol B, Clarke JT, Clayton P, Coker M, Cooper S, Falik-Zaccai T, Gorman M, Hahn A, Hasanoglu A, King MD, de Klerk HB, Korman SH, Lee C, Meldgaard Lund A, Mejaski-Bosnjak V, Pascual-Castroviejo I, Raadhyaksha A, Rootwelt T, Roubertie A, Ruiz-Falco ML, Scalais E, Schimmel U, Seijo-Martinez M, Suri M, Sykut-Cegielska J, Trefz FK, Uziel G, Valayannopoulos V, Vianey-Saban C, Vlaho S, Vodopiutz J, Wajner M, Walter J, Walter-Derbort C, Yapici Z, Zafeiriou DI, Spreeuwenberg MD, Celli J, den Dunnen JT, van der Knaap MS, Salomons GS. Steenweg ME, et al. Hum Mutat. 2010 Apr;31(4):380-90. doi: 10.1002/humu.21197. Hum Mutat. 2010. PMID: 20052767 Review.
L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients.
Steenweg ME, Salomons GS, Yapici Z, Uziel G, Scalais E, Zafeiriou DI, Ruiz-Falco ML, Mejaski-Bosnjak V, Augoustides-Savvopoulou P, Wajner M, Walter J, Verhoeven-Duif NM, Struys EA, Jakobs C, van der Knaap MS. Steenweg ME, et al. Radiology. 2009 Jun;251(3):856-65. doi: 10.1148/radiol.2513080647. Radiology. 2009. PMID: 19474378
Sleep disorders in children with epilepsy.
Furones García M, García Peñas JJ, González Alguacil E, Moreno Cantero T, Ruiz Falcó ML, Cantarín Extremera V, Soto Insuga V. Furones García M, et al. Among authors: ruiz falco ml. Neurologia (Engl Ed). 2024 Apr;39(3):219-225. doi: 10.1016/j.nrleng.2024.01.011. Epub 2024 Feb 1. Neurologia (Engl Ed). 2024. PMID: 38307413 Free article.
Smell and Taste Dysfunction in Pediatric Patients With SARS-CoV-2 Infection.
Púa Torrejón RC, Ordoño Saiz MV, González Alguacil E, Furones García M, Cantarín Extremera V, Ruiz Falcó ML, Soto Insuga V. Púa Torrejón RC, et al. Among authors: ruiz falco ml. Pediatr Neurol. 2022 Nov;136:28-33. doi: 10.1016/j.pediatrneurol.2022.07.006. Epub 2022 Aug 1. Pediatr Neurol. 2022. PMID: 36084419 Free PMC article.
Efficacy of Brivaracetam in children with epilepsy.
Ferragut Ferretjans F, Soto Insuga V, Bernardino Cuesta B, Cantarín Extremera V, Duat Rodriguez A, Legido MJ, González Alguacil E, Furones García M, Gutiérrez Solana L, Moreno Cantero T, Ruiz Falcó ML, García Peñas JJ. Ferragut Ferretjans F, et al. Among authors: ruiz falco ml. Epilepsy Res. 2021 Nov;177:106757. doi: 10.1016/j.eplepsyres.2021.106757. Epub 2021 Sep 10. Epilepsy Res. 2021. PMID: 34530305
Sleep disorders in children with epilepsy.
Furones García M, García Peñas JJ, González Alguacil E, Moreno Cantero T, Ruiz Falcó ML, Cantarín Extremera V, Soto Insuga V. Furones García M, et al. Among authors: ruiz falco ml. Neurologia (Engl Ed). 2021 Sep 10:S0213-4853(21)00114-6. doi: 10.1016/j.nrl.2021.05.014. Online ahead of print. Neurologia (Engl Ed). 2021. PMID: 34518025 Free article. English, Spanish.
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Fernández-Marmiesse A, Roca I, Díaz-Flores F, Cantarín V, Pérez-Poyato MS, Fontalba A, Laranjeira F, Quintans S, Moldovan O, Felgueroso B, Rodríguez-Pedreira M, Simón R, Camacho A, Quijada P, Ibanez-Mico S, Domingno MR, Benito C, Calvo R, Pérez-Cejas A, Carrasco ML, Ramos F, Couce ML, Ruiz-Falcó ML, Gutierrez-Solana L, Martínez-Atienza M. Fernández-Marmiesse A, et al. Among authors: ruiz falco ml. Front Neurosci. 2019 Nov 8;13:1135. doi: 10.3389/fnins.2019.01135. eCollection 2019. Front Neurosci. 2019. PMID: 31780880 Free PMC article.
34 results