Efficacy and Tolerability of Lacosamide in the Concomitant Treatment of 130 Patients Under 16 Years of Age with Refractory Epilepsy: A Prospective, Open-Label, Observational, Multi...

por Casas-Fernández, Carlos, Martínez-Bermejo, Antonio, Rufo-Campos, Miguel, Smeyers-Durá, Patricia, Herranz-Fernández, José L., Ibáñez-Micó, Salvador, Campistol-Plana, Jaume, Alarcón-Martínez, Helena, Campos-Castelló, Jaime
Publicado 2012

Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients

por Batllori, Marta, Molero-Luis, Marta, Arrabal, Luisa, Heras, Javier de las, Fernandez-Ramos, Joaquín-Alejandro, Gutiérrez-Solana, Luis González, Ibáñez-Micó, Salvador, Domingo, Rosario, Campistol, Jaume, Ormazabal, Aida, Sedel, Frederic, Opladen, Thomas, Zouvelou, Basiliki, Pons, Roser, Garcia-Cazorla, Angels, Lopez-Laso, Eduardo, Artuch, Rafael
Publicado 2017

The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1

por Sánchez‐Lijarcio, Obdulia, Yubero, Delia, Leal, Fátima, Couce, María L., González Gutiérrez‐Solana, Luis, López‐Laso, Eduardo, García‐Cazorla, Àngels, Pías‐Peleteiro, Leticia, de Azua Brea, Begoña, Ibáñez‐Micó, Salvador, Mateo‐Martínez, Gonzalo, Troncoso‐Schifferli, Monica, Witting‐Enriquez, Scarlet, Ugarte, Magdalena, Artuch, Rafael, Pérez, Belén
Publicado 2022

Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum

por Santos-Gómez, Ana, Miguez-Cabello, Federico, Juliá-Palacios, Natalia, García-Navas, Deyanira, Soto-Insuga, Víctor, García-Peñas, Juan J., Fuentes, Patricia, Ibáñez-Micó, Salvador, Cuesta, Laura, Cancho, Ramón, Andreo-Lillo, Patricia, Gutiérrez-Aguilar, Gema, Alonso-Luengo, Olga, Málaga, Ignacio, Hedrera-Fernández, Antonio, García-Cazorla, Àngels, Soto, David, Olivella, Mireia, Altafaj, Xavier
Publicado 2021

Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases

por Rovira-Remisa, M. Mar, Moreira, Mónica, Ventura, Paula Sol, Gonzalez-Alvarez, Pablo, Mestres, Núria, Graterol Torres, Fredzzia, Joaquín, Clara, Seuma, Agustí Rodríguez-Palmero, del Mar Martínez-Colls, Maria, Roche, Ana, Ibáñez-Micó, Salvador, López-Laso, Eduardo, Méndez-Hernández, María Jesús, Murillo, Marta, Monlleó-Neila, Laura, Maqueda-Castellote, Elena, del Toro Riera, Mireia, Felipe-Rucián, Ana, Giralt-López, Maria, Cortès-Saladelafont, Elisenda
Publicado 2023

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

por Fernández-Marmiesse, Ana, Roca, Iria, Díaz-Flores, Felícitas, Cantarín, Verónica, Pérez-Poyato, Mª Socorro, Fontalba, Ana, Laranjeira, Francisco, Quintans, Sofia, Moldovan, Oana, Felgueroso, Blanca, Rodríguez-Pedreira, Montserrat, Simón, Rogelio, Camacho, Ana, Quijada, Pilar, Ibanez-Mico, Salvador, Domingno, Mª Rosario, Benito, Carmen, Calvo, Rocío, Pérez-Cejas, Antonia, Carrasco, Mª Llanos, Ramos, Feliciano, Couce, Mª Luz, Ruiz-Falcó, Mª Luz, Gutierrez-Solana, Luis, Martínez-Atienza, Margarita
Publicado 2019

Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder

por Medico Salsench, Eva, Maroofian, Reza, Deng, Ruizhi, Lanko, Kristina, Nikoncuk, Anita, Pérez, Belén, Sánchez-Lijarcio, Obdulia, Ibáñez-Mico, Salvador, Wojcik, Antonina, Vargas, Marcelo, Abbas Al-Sannaa, Nouriya, Girgis, Marian Y, Silveira, Tainá Regina Damaceno, Bauer, Peter, Schroeder, Audrey, Fong, Chin-To, Begtrup, Amber, Babaei, Meisam, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Doosti, Mohammad, Ahangari, Najmeh, Najarzadeh Torbati, Paria, Ghayoor Karimiani, Ehsan, Murphy, David, Cali, Elisa, Kaya, Ibrahim H, AlMuhaizea, Mohammad, Colak, Dilek, Cardona-Londoño, Kelly J, Arold, Stefan T, Houlden, Henry, Bertoli-Avella, Aida, Kaya, Namik, Barakat, Tahsin Stefan
Publicado 2021

Availability and use of rapid diagnostic tests for the management of acute childhood infections in Europe: A cross-sectional survey of paediatricians

por Dewez, Juan Emmanuel, Pembrey, Lucy, Nijman, Ruud G., del Torso, Stefano, Grossman, Zachi, Hadjipanayis, Adamos, Van Esso, Diego, Lim, Emma, Emonts, Marieke, Burns, James, Gras-LeGuen, Christèle, Kohlfuerst, Daniela, Dornbusch, Hans Jürgen, Brengel-Pesce, Karen, Mallet, Francois, von Both, Ulrich, Tsolia, Maria, Eleftheriou, Irini, Zavadska, Dace, de Groot, Ronald, van der Flier, Michiel, Moll, Henriëtte, Hagedoorn, Nienke, Borensztajn, Dorine, Oostenbrink, Rianne, Kuijpers, Taco, Pokorn, Marko, Vincek, Katarina, Martinón-Torres, Federico, Rivero, Irene, Agyeman, Philipp, Carrol, Enitan D., Paulus, Stéphane, Cunnington, Aubrey, Herberg, Jethro, Levin, Michael, Mujkić, Aida, Geitmann, Karin, Da Dalt, Liviana, Valiulis, Arūnas, Lapatto, Risto, Syridou, Garyfallia, Altorjai, Péter, Torpiano, Paul, Størdal, Ketil, Illy, Károly, Mazur, Artur, Spreitzer, Mateja Vintar, Rios, Joana, Wyder, Corinne, Romankevych, Ivanna, Basmaci, Romain, Ibanez-Mico, Salvador, Yeung, Shunmay
Publicado 2022