Repositorio Dspace

Listar por autor "Ibáñez-Micó, Salvador"

Listar por autor "Ibáñez-Micó, Salvador"

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  • A Multi-Target Pharmacological Correction of a Lipoyltransferase LIPT1 Gene Mutation in Patient-Derived Cellular Models 
    Gomez-Fernández, David; Romero-González, Ana; Suárez-Rivero, Juan-M; Cilleros-Holgado, Paula; Álvarez-Cordoba, Mónica; Piñero-Perez, Rocío; Romero-Dominguez, José-Manuel; Reche-López, Diana; López-Cabrera, Alejandra; Ibáñez-Micó, Salvador; Castro-de-Oliveira, Marta (MDPI, 2024-08)
    Simple Summary Cardiovascular diseases represent the leading cause of mortality and morbidity worldwide, and age is an important contributing factor. Preclinical models are crucial for exploring and understanding the ...
  • A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells 
    Awamleh, Zain; Choufani, Sanaa; Wu, Wendy; Rots, Dmitrijs; Dingemans, Alexander-J-M; Khadri, Nael-Nadif; Boronat, Susana; Ibáñez-Micó, Salvador; Cuesta-Herraiz, Laura; Ferrer, Irene; Martínez-Carrascal, Antonio; Pérez-Jurado, Luis-A; Aznar-Laín, Gemma; Ortigoza-Escoba, (SPRINGERNATURE, 2024-03)
    Pathogenic variants in KANSL1 and 17q21.31 microdeletions are causative of Koolen-de Vries syndrome (KdVS), a neurodevelopmental syndrome with characteristic facial dysmorphia. Our previous work has shown that syndromic ...
  • Availability and use of rapid diagnostic tests for the management of acute childhood infections in Europe: A cross-sectional survey of paediatricians 
    Dewez, Juan-Emmanuel; Pembrey, Lucy; Nijman, Ruud-G; del-Torso, Stefano; Grossman, Zachi; Hadjipanayis, Adamos; van-Esso-Arbolave, Diego; Lim, Emma; Emonts, Marieke; Burns, James; Gras-LeGuen, Christele; Kohlfuerst, Daniela; Dornbusch, Hans-Juergen; Brengel-Pesce, Karen; Mallet, Francois; von-Both, Ulrich; Tsolia, María; Eleftheriou, Irini; Zavadska, Dace; de-Groot, R; van-der-Flier, Michiel; Moll, Henriette; Hagedoorn, Nienke; Borensztajn, Dorine; Oostenbrink, Rianne; Kuijpers, Taco; Pokorn, Marko; Vincek, Katarina; Martínon-Torres, Federico; Rivero, Irene; Agyeman, Philipp; Carrol, Enitan-D; Paulus, Stephane; Cunnington, Aubrey; Herberg, Jethro; Levin, Michael; Geitmann, Karin; Da-Dalt, Liviana; Lapatto, Risto; Syridou, Garyfallia; Altorjai, Peter; Torpiano, Paul; Stordal, Ketil; Illy, Karoly; Mazur, Artur; Spreitzer, Mateja-Vintar; Ríos, Joana; Wyder, Corinne; Romankevych, Ivanna; Basmaci, Romain; Ibáñez-Micó, Salvador; Yeung, Shunmay; Mujkic, Aida; Valiulis, Arunas (PUBLIC LIBRARY SCIENCE, 2022-12-20)
    BACKGROUND: Point-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 ...
  • Correction to: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells (European Journal of Human Genetics, (2024), 32, 3, (324-332), 10.1038/s41431-024-01538-6) 
    Awamleh, Zain; Choufani, Sanaa; Wu, Wendy; Rots, Dmitrijs; Dingemans, Alexander-J-M; Nadif-Kasri, Nael; Boronat, Susana; Ibáñez-Micó, Salvador; Cuesta-Herraiz, Laura; Ferrer, Irene; Martínez-Carrascal, Antonio; Pérez-Jurado, Luis-A; Aznar-Laín, Gemma; Ortigoza-Escobar, Juan-Dario; de-Vries, Bert-B-A; Koolen, David-A; Weksberg, Rosanna (Springer Nature, 2024)
  • Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes 
    Himmelreich, Nastassja; Bertoldi, Maríarita; Alfadhel, Majid; Alghamdi, Malak-Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad-A; Ben-Zeev, Bruria; Bisello, Giovanni; Ceylan, Ahmet-Cevdet; Chien, Yin-Hsiu; Choy, Yew-Sing; Elsea, Sarah-H; Flint, Lisa; García-Cazorla, Ángels; Gijavanekar, Charul; Guemues, Emel-Yilmaz; Hamad, Muddathir-H; Hismi, Burcu; Honzik, Tomás; Huebschmann, Oya-Kuseyri; Hwu, Wuh-Liang; Ibáñez-Micó, Salvador; Jeltsch, Kathrin; Julia-Palacios, Natalia; Kasapkara, Cigdem-Seher; Kurian, Manju-A; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock-Hock; Odom, John-D; Ong, Winnie-Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip-L; Pérez, Belén; Pons, Roser; Rygiel, Agnieszka-Magdalena; Shien, Tan-Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thoeny, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine-Goh-Chew; Zeman, Jiri; Blau, Nenad (ACADEMIC PRESS INC ELSEVIER SCIENCE, 2023-07)
    Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive genetic disorder affecting the biosynthesis of dopamine, a precursor of both norepinephrine and epinephrine, and serotonin. Diagnosis is ...
  • The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1 
    Sánchez-Lijarcio, Obdulia; Yubero, Delia; Leal, Fatima; Couce, María-Luz; González-Gutiérrez-Solana, Luis; López-Laso, Eduardo; García-Cazorla, Ángels; Pias-Peleteiro, Leticia; de-Azua-Brea, Begoña; Ibáñez-Micó, Salvador; Mateo-Martínez, Gonzalo; Troncoso-Schifferli, Mónica; Witting-Enriquez, Scarlet; Ugarte, Magdalena; Artuch, Rafael; Pérez, Belén (WILEY, 2022-07)
    Glucose transporter 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder caused by haploinsufficiency of the GLUT1 glucose transporter (encoded by SLC2A1) leading to defective glucose transport across the blood-brain ...
  • The genetic landscape of mitochondrial diseases in spain: A nationwide call 
    Bellusci, Marcello; Paredes-Fuentes, Abraham-J; Ruiz-Pesini, Eduardo; Gómez, Beatriz; Martín, Miguel-A; Montoya, Julio; Artuch, Rafael; Ribes, Antonia; Tort, Frederic; García-Villoria, Judith; Pajares, Sonia; Muñoz-Pujol, Gerard; Gort, Laura; Ugarteburu, Olatz; Valls-Roca, Laura; Cantó-Santos, Judith; García-García, Josep; Tobías, Esther; Deudero, Aida; Moreno, Pedro-Juan; Milisenda, José-César; Garrabou, Glòria; Grau, Josep-María; Cardellach, Francesc; Del-Castillo, Ignacio; Morín-Rodríguez, Matías; Domínguez-Ruiz, María; Moreno-Pelayo, Miguel-Ángel; Ayuso, Carmen; Villaverde-Montero, Cristina; Avila-Fernández, Almudena; Lorda-Sánchez, Isabel; Swafiri, Saoud; Rodríguez-Pombo, Pilar; Pérez, Belén; Navarrete, Rosa; López-Gallardo, Ester; Emperador, Sonia; Pacheu-Grau, David; Bayona-Bafaluy, M-Pilar; Arenas, Joaquín; Blázquez, Alberto; Domínguez-González, Cristina; Morales-Conejo, Montserrat; García-Silva, María-T; Martín-Hernández, Elena; Quijada-Fraile, Pilar; Camacho-Salas, Ana; Nuñez-Enamorado, Noemí; Martínez-Azorín, Francisco; García-Campos, Oscar; Navas, Plácido; Santos-Ocaña, Carlos; Schlüter, Agatha; Ruiz, Montserrat; Pujol, Aurora; Oancea-Ionescu, Raluca; Horga, Alejandro; Galán, Lucía; Guerrero, Antonio; Fenollar-Cortés, María; Cotarelo-Pérez, Carmen; Herrero-Forte, Clara; Gómez-Serrano, Manuel; Ley-Martos, Myriam; Gutiérrez-Moro, Carmen; Lubián-Gutiérrez, Manuel; Aguilera-Albesa, Sergio; Jericó-Pascual, Ivonne; Aznal-Sainz, Elena; Gil-Campos, Mercedes; López-Laso, Eduardo; Fuentes-Pita, Patricia; Couce, María-L; Esteban-Cardeñosa, Eva; Caamaño, Pilar; Cadiñanos, Juan; Diñeiro, Marta; Palacin-Larroy, Marta; Espejo-López, Francisco; Fernández-Burriel, Miguel; Muñoz-Cabello, Beatriz; Zúñiga, Ángel; Vitoria, Isidro; Martínez, Francisco; Millán, José-M; Correcher, Patricia; Muelas, Nuria; Vilchez, Juan-J; Sevilla, Teresa; Tomas-Vila, Miquel; Orellana, Carmen; Nieves-Moreno, María; Noval, Susana; Vallespin, Elena; Campos-Barros, Ángel; Ceán-Cabrera, Lourdes; Ibáñez-Micó, Salvador; Guillén-Navarro, Encarna; López-González, Vanesa; Ballesta-Martínez, Juliana; Marcos-Toledano, María-M; Cortès-Saladelafont, Elisenda; Giménez-Muñoz, Álvaro; Yubero, Delia; Nascimento, A; García-Cazorla, Ángels; O'Callaghan, María-del-Mar; Dario-Ortigoza, Juan-D; Montero, Raquel; Jou, Cristina; Jiménez-Mallebrera, Cecilia; Palau, Francesc; Pineda, Merce; Yahyaoui, Raquel; Benito, Carmen; Vázquez-López, María; Barredo-Valderrama, Estíbaliz; Bernardino-Cuesta, Beatriz; González-Gutiérrez-Solana, Luis; Moris, Germán; Almeida-Velasco, Javier; López-de-Heredia, Miguel; Segovia, Sonia; Pla-Junca, Francesc; Urreizti, Roser; Díaz-de-Bustamante, Aranzazu; Darnaude, M-Teresa; García-Arumi, Elena; Marti, Ramón; Rovira-Moreno, Eulàlia; Juntas-Morales, Raúl; Del-Toro, Mireia; Pérez-Dueñas, Belén; Munell, Francina; De-las-Heras, Javier; Ceberio-Hualde, Leticia; Unceta-Suárez, María; Marti, Itxaso; Fernández-Marmiesse, Ana; Medina-Martínez, Inmaculada; García-García, Jorge; León-Hernández, Juan-Carlos; Ruiz-Gómez, Ángeles; De-Azua-Brea, Begoña; Olivé, Monstse; Diaz-Manera, Jordi; Gallardo, Eduard (Multidisciplinary Digital Publishing Institute (MDPI), 2021)
    The frequency of mitochondrial diseases (MD) has been scarcely documented, and only a few studies have reported data in certain specific geographical areas. In this study, we arranged a nationwide call in Spain to obtain ...