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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: couce ml. Front Neurosci. 2019 Nov 8;13:1135. doi: 10.3389/fnins.2019.01135. eCollection 2019. Front Neurosci. 2019. PMID: 31780880 Free PMC article.
A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder.
Fernández-Marmiesse A, Kusumoto H, Rekarte S, Roca I, Zhang J, Myers SJ, Traynelis SF, Couce ML, Gutierrez-Solana L, Yuan H. Fernández-Marmiesse A, et al. Among authors: couce ml. Mov Disord. 2018 Jul;33(6):992-999. doi: 10.1002/mds.27315. Epub 2018 Apr 11. Mov Disord. 2018. PMID: 29644724 Free PMC article.
New CTSA mutation in early infantile galactosialidosis.
Aldámiz-Echevarría L, Couce ML, Villate O, Fernández-Marmiesse A, Piñán MÁ. Aldámiz-Echevarría L, et al. Among authors: couce ml. Pediatr Int. 2018 Aug;60(8):761-762. doi: 10.1111/ped.13604. Epub 2018 Jul 10. Pediatr Int. 2018. PMID: 29987886 No abstract available.
247 results