Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Salvador Ibañez-Mico"'
Autor:
Juliana Ribeiro-Constante, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, Salvador Ibañez-Mico, José Luis Peña Segura, José Miguel Ramos-Fernández, María del Carmen Moyano Chicano, Rafael Camino León, Víctor Soto Insuga, Elena González Alguacil, Carlos Valera Dávila, Alberto Fernández-Jaén, Laura Plans, Ana Camacho, Nuria Visa-Reñé, María del Pilar Martin-Tamayo Blázquez, Fernando Paredes-Carmona, Itxaso Marti-Carrera, Aránzazu Hernández-Fabián, Meritxell Tomas Davi, Merce Casadesus Sanchez, Laura Cuesta Herraiz, Patricia Fuentes Pita, Teresa Bermejo Gonzalez, Mar O'Callaghan, Federico Felipe Iglesias Santa Polonia, María Rosario Cazorla, María Teresa Ferrando Lucas, Antonio González-Meneses, Júlia Sala-Coromina, Alfons Macaya, Amaia Lasa-Aranzasti, Anna Ma Cueto-González, Francisca Valera Párraga, Jaume Campistol Plana, Mercedes Serrano, Xenia Alonso, Diego Del Castillo-Berges, Marc Schwartz-Palleja, Sofía Illescas, Alia Ramírez Camacho, Oscar Sans Capdevila, Angeles García-Cazorla, Àlex Bayés, Itziar Alonso-Colmenero
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 12 (2024)
SYNGAP1 haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in electroencephalo
Externí odkaz:
https://doaj.org/article/166caca1761d48df939f150c72881fb8
Autor:
David Gómez-Fernández, Ana Romero-González, Juan M. Suárez-Rivero, Paula Cilleros-Holgado, Mónica Álvarez-Córdoba, Rocío Piñero-Pérez, José Manuel Romero-Domínguez, Diana Reche-López, Alejandra López-Cabrera, Salvador Ibáñez-Mico, Marta Castro de Oliveira, Andrés Rodríguez-Sacristán, Susana González-Granero, José Manuel García-Verdugo, José A. Sánchez-Alcázar
Publikováno v:
Antioxidants, Vol 13, Iss 8, p 1023 (2024)
Mutations in the lipoyltransferase 1 (LIPT1) gene are rare inborn errors of metabolism leading to a fatal condition characterized by lipoylation defects of the 2-ketoacid dehydrogenase complexes causing early-onset seizures, psychomotor retardation,
Externí odkaz:
https://doaj.org/article/3e5f8306564c49ea85740f0320439a87
Autor:
M. Mar Rovira-Remisa, Mónica Moreira, Paula Sol Ventura, Pablo Gonzalez-Alvarez, Núria Mestres, Fredzzia Graterol Torres, Clara Joaquín, Agustí Rodríguez-Palmero Seuma, Maria del Mar Martínez-Colls, Ana Roche, Salvador Ibáñez-Micó, Eduardo López-Laso, María Jesús Méndez-Hernández, Marta Murillo, Laura Monlleó-Neila, Elena Maqueda-Castellote, Mireia del Toro Riera, Ana Felipe-Rucián, Maria Giralt-López, Elisenda Cortès-Saladelafont
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 35, Iss , Pp 100962- (2023)
Introduction: The Covid-19 pandemic soon became an international health emergency raising concern about its impact not only on physical health but also on quality of life and mental health. Rare diseases are chronically debilitating conditions with c
Externí odkaz:
https://doaj.org/article/a35c47124c8f40768c3c174665676a2e
Autor:
Juan Emmanuel Dewez, Lucy Pembrey, Ruud G Nijman, Stefano Del Torso, Zachi Grossman, Adamos Hadjipanayis, Diego Van Esso, Emma Lim, Marieke Emonts, James Burns, Christèle Gras-LeGuen, Daniela Kohlfuerst, Hans Jürgen Dornbusch, Karen Brengel-Pesce, Francois Mallet, Ulrich von Both, Maria Tsolia, Irini Eleftheriou, Dace Zavadska, Ronald de Groot, Michiel van der Flier, Henriëtte Moll, Nienke Hagedoorn, Dorine Borensztajn, Rianne Oostenbrink, Taco Kuijpers, Marko Pokorn, Katarina Vincek, Federico Martinón-Torres, Irene Rivero, Philipp Agyeman, Enitan D Carrol, Stéphane Paulus, Aubrey Cunnington, Jethro Herberg, Michael Levin, Aida Mujkić, Karin Geitmann, Liviana Da Dalt, Arūnas Valiulis, Risto Lapatto, Garyfallia Syridou, Péter Altorjai, Paul Torpiano, Ketil Størdal, Károly Illy, Artur Mazur, Mateja Vintar Spreitzer, Joana Rios, Corinne Wyder, Ivanna Romankevych, Romain Basmaci, Salvador Ibanez-Mico, Shunmay Yeung
Publikováno v:
PLoS ONE, Vol 17, Iss 12, p e0275336 (2022)
BackgroundPoint-of-care-tests (POCTs) have been advocated to optimise care in patients with infections but their actual use varies. This study aimed to estimate the variability in the adoption of current POCTs by paediatricians across Europe, and to
Externí odkaz:
https://doaj.org/article/c13cbd070cfb4a0aab2e2c5e9a0130b3
Autor:
Ana Fernández-Marmiesse, Iria Roca, Felícitas Díaz-Flores, Verónica Cantarín, Mª Socorro Pérez-Poyato, Ana Fontalba, Francisco Laranjeira, Sofia Quintans, Oana Moldovan, Blanca Felgueroso, Montserrat Rodríguez-Pedreira, Rogelio Simón, Ana Camacho, Pilar Quijada, Salvador Ibanez-Mico, Mª Rosario Domingno, Carmen Benito, Rocío Calvo, Antonia Pérez-Cejas, Mª Llanos Carrasco, Feliciano Ramos, Mª Luz Couce, Mª Luz Ruiz-Falcó, Luis Gutierrez-Solana, Margarita Martínez-Atienza
Publikováno v:
Frontiers in Neuroscience, Vol 13 (2019)
In order to characterize the genetic architecture of epilepsy in a pediatric population from the Iberian Peninsula (including the Canary Islands), we conducted targeted exome sequencing of 246 patients with infantile-onset seizures with or without ne
Externí odkaz:
https://doaj.org/article/9472500101a14f7eb251f61423ea1fb9