Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

13 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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: perez poyato ms. Front Neurosci. 2019 Nov 8;13:1135. doi: 10.3389/fnins.2019.01135. eCollection 2019. Front Neurosci. 2019. PMID: 31780880 Free PMC article.
Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report.
Fernández-Marmiesse A, Pérez-Poyato MS, Fontalba A, Marco de Lucas E, Martínez MT, Cabero Pérez MJ, Couce ML. Fernández-Marmiesse A, et al. Among authors: perez poyato ms. BMC Med Genet. 2019 Jun 24;20(1):112. doi: 10.1186/s12881-019-0844-5. BMC Med Genet. 2019. PMID: 31234783 Free PMC article.
[Variability of the clinical expression of KCNB1 encephalopathy].
Púa-Torrejón RC, González-Alguacil E, Soto-Insuga V, Moreno-Cantero T, Ortiz-Cabrera NV, Pérez-Poyato MS, Ruiz Falcó-Rojas ML, García-Peñas JJ. Púa-Torrejón RC, et al. Among authors: perez poyato ms. Rev Neurol. 2021 Nov 16;73(12):403-408. doi: 10.33588/rn.7312.2021267. Rev Neurol. 2021. PMID: 34877642 Free article. Spanish.
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: perez poyato ms. Neuropediatrics. 2021 Jun;52(3):192-200. doi: 10.1055/s-0041-1725008. Epub 2021 Mar 3. Neuropediatrics. 2021. PMID: 33657631
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
Fernández-Marmiesse A, Morey M, Pineda M, Eiris J, Couce ML, Castro-Gago M, Fraga JM, Lacerda L, Gouveia S, Pérez-Poyato MS, Armstrong J, Castiñeiras D, Cocho JA. Fernández-Marmiesse A, et al. Among authors: perez poyato ms. Orphanet J Rare Dis. 2014 Apr 25;9:59. doi: 10.1186/1750-1172-9-59. Orphanet J Rare Dis. 2014. PMID: 24767253 Free PMC article.
Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish series.
Pérez Poyato MS, Milá Recansens M, Ferrer Abizanda I, Domingo Jiménez R, López Lafuente A, Cusí Sánchez V, Rodriguez-Revenga L, Coll Rosell MJ, Gort L, Póo Argüelles P, Pineda Marfa M. Pérez Poyato MS, et al. Gene. 2012 May 15;499(2):297-302. doi: 10.1016/j.gene.2012.02.013. Epub 2012 Feb 22. Gene. 2012. PMID: 22387303
13 results