檢索結果 - Luis González‐Gutiérrez‐Solana

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  1. 1
    Clinical, biochemical, and molecular studies in pyridoxine‐dependent epilepsy. Antisense therapy as possible new therapeutic option

    Clinical, biochemical, and molecular studies in pyridoxine‐dependent epilepsy. Antisense therapy as possible new therapeutic option 由 Belén Pérez, Luis González Gutiérrez‐Solana, Alfonso Verdú, B. Merinero, Patricia Yuste‐Checa, Pedro Ruiz‐Sala, Rocío Calvo, Anil Jalan, Laura López Marín, Oscar Campos, María Ángeles Ruiz, Marta San Miguel, María Eugenia Vázquez, Margarita Castro, Isaac Ferrer, Rosa Navarrete, Lourdes R. Desviat, Pablo Lapunzina, Magdalena Ugarte, Celia Pérez‐Cerdá

    出版 2013
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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

    Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients 由 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 Ibáñez‐Micó, Ma Rosario Domingno, Carmen Benito, Rocío Calvo, Antonia Pérez-Cejas, Ma Llanos Carrasco, Feliciano J. Ramos, Ma Luz Couce, Ma Luz Ruiz-Falcó, Luis González Gutiérrez-Solana, Margarita Martínez-Atienza

    出版 2019
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  3. 3
    Biallelic<i>PI4KA</i>variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

    Biallelic<i>PI4KA</i>variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy 由 Edgard Verdura, Agustí Rodríguez‐Palmero, Valentina Vélez-Santamaría, Laura Planas‐Serra, Irene de la Calle, Miquel Raspall‐Chaure, Agathe Roubertie, Mehdi Benkirane, Francesco Saettini, Lisa Pavinato, Giorgia Mandrile, Melanie O’Leary, Emily O’Heir, Estíbaliz Barredo Valderrama, Almudena Chacón, Vincent Michaud, Cyril Goizet, Montserrat Ruíz, Agatha Schlüter, Isabelle Rouvet, Júlia Sala‐Coromina, C Fossati, Maria Iascone, Francesco Canonico, Anna Marcé‐Grau, Precilla de Souza, David R. Adams, Carlos Casasnovas, Heidi L. Rehm, Heather C. Mefford, Luis González Gutiérrez-Solana, Alfredo Brusco, M. Kœnig, Alfons Macaya, Aurora Pujol

    出版 2021
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  4. 4
    Autoimmune post–herpes simplex encephalitis of adults and teenagers

    Autoimmune post–herpes simplex encephalitis of adults and teenagers 由 Thaís Armangué, Germán Morís, Verónica Cantarín Extremera, Carlos Enrique Conde, Kevin Rostásy, María Elena Erro, Juan Carlos Portilla-Cuenca, Eulàlia Turón-Viñas, Ignacio Málaga, Beatriz Muñoz‐Cabello, Carmen Torres-Torres, Sara Llufriú, Luis González‐Gutiérrez‐Solana, Guillermo González, Ignacio Casado-Naranjo, Myrna R. Rosenfeld, Francesc Graus, Josep Dalmau, Esther Aguilar, Sergio Aguilera, Izaskun Arratibel, Luís Bataller, Beatríz Bosch, Carlos Cervera, David Conejo-Moreno, Íñigo Corral, Marta Dapena, Domingo Escudero, Jordi Estela, Juan Carlos García‐Moncó, Verónica González-Álvarez, Robert Güerri, Sara Guillén-Martín, Rogelio López‐Cuevas, María Dolores López, Eduardo López‐Laso, Javier López Pisón, Virginia Pomar, Luis Prieto, B Martínez-Menéndez, Leticia Martin-Gil, Juan Navarro‐Morón, María Pérez-Poyato, Miquel Raspall‐Chaure, Maria Rodés, Raquel Sánchez‐Valle, Estevo Santamaria, Pere Soler‐Palacín, Manuel Toledo, Miguel Tomás‐Vila

    出版 2015
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