Repositorio Dspace

Listar por autor "Ibáñez-Mico, Salvador"

Listar por autor "Ibáñez-Mico, Salvador"

Ordenar por:Orden:Resultados:

  • Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder 
    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 (Oxford University Press, 2021)
  • Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients 
    Fernández-Marmiesse, Ana; Roca, Iria; Díaz-Flores, Felicitas; Cantarin, Veronica; Socorro-Pérez-Poyato, Ma; Fontalba, Ana; Laranjeira, Francisco; Quintans, Sofia; Moldovan, Oana; Felgueroso, Blanca; Rodríguez-Pedreira, Montserrat; Simon, Rogelio; Camacho, Ana; Quijada, Pilar; Ibáñez-Mico, Salvador; Rosario-Domingno, Ma; Benito, Carmen; Calvo, Rocío; Pérez-Cejas, Antonia; Llanos-Carrasco, Ma; Ramos, Feliciano; Luz-Couce, Ma; Luz-Ruiz-Falco, Ma; Gutiérrez-Solana, Luis; Martínez-Atienza, Margarita (FRONTIERS MEDIA SA, 2019-11-08)
    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 ...
  • Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients 
    Batllori, Marta; Molero-Luis, Marta; Arrabal, Luisa; de-las-Heras, Javier; Fernández-Ramos, Joaquín-Alejandro; Gutiérrez-Solana, Luis-González; Ibáñez-Mico, Salvador; Domingo-Jiménez, Rosario; Campistol, Jaume; Ormazabal, Aida; Sedel, Frederic; Opladen, Thomas; Zouvelou, Basiliki; Pons, Roser; García-Cazorla, Ángels; López-Laso, Eduardo; Artuch, Rafael (NATURE PORTFOLIO, 2017-11-07)
    Melatonin is synthesized from serotonin and it is excreted as sulphatoxymelatonin in urine. We aim to evaluate urinary sulphatoxymelatonin as a biomarker of brain serotonin status in a cohort of patients with mutations in ...