A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins
Navarro-Sastre, Aleix, Tort, Frederic, Stehling, Oliver, Uzarska, Marta A., Arranz, José Antonio, del Toro, Mireia, Labayru, M. Teresa, Landa, Joseba, Font, Aida, Garcia-Villoria, Judit, Merinero, Begoña, Ugarte, Magdalena, Gutierrez-Solana, Luis Gonzalez, Campistol, Jaume, Garcia-Cazorla, Angels, Vaquerizo, Julian, Riudor, Encarnació, Briones, Paz, Elpeleg, Orly, Ribes, Antonia, Lill, Roland
Published in American journal of human genetics (11.11.2011)
Published in American journal of human genetics (11.11.2011)
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Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy
Friedman, Jennifer, Roze, Emmanuel, Abdenur, Jose E., Chang, Richard, Gasperini, Serena, Saletti, Veronica, Wali, Gurusidheshwar M., Eiroa, Hernan, Neville, Brian, Felice, Alex, Parascandalo, Ray, Zafeiriou, Dimitrios I., Arrabal-Fernandez, Luisa, Dill, Patricia, Eichler, Florian S., Echenne, Bernard, Gutierrez-Solana, Luis G., Hoffmann, Georg F., Hyland, Keith, Kusmierska, Katarzyna, Tijssen, Marina A. J., Lutz, Thomas, Mazzuca, Michel, Penzien, Johann, Poll-The, Bwee Tien, Sykut-Cegielska, Jolanta, Szymanska, Krystyna, Thöny, Beat, Blau, Nenad
Published in Annals of neurology (01.04.2012)
Published in Annals of neurology (01.04.2012)
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Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations
Hortigüela, Montesclaros, Fernández-Marmiesse, Ana, Cantarín, Verónica, Gouveia, Sofía, García-Peñas, Juan J, Fons, Carmen, Armstrong, Judith, Barrios, Desirée, Díaz-Flores, Felícitas, Tirado, Pilar, Couce, María L, Gutiérrez-Solana, Luis G
Published in Journal of human genetics (01.02.2017)
Published in Journal of human genetics (01.02.2017)
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Tocilizumab in pediatric refractory status epilepticus and acute epilepsy: Experience in two patients
Cantarín-Extremera, Verónica, Jiménez-Legido, María, Duat-Rodríguez, Anna, García-Fernández, Marta, Ortiz-Cabrera, Nelmar Valentina, Ruiz-Falcó-Rojas, María Luz, González-Gutiérrez-Solana, Luis
Published in Journal of neuroimmunology (15.03.2020)
Published in Journal of neuroimmunology (15.03.2020)
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A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)
Serrano, Natalia Lourdes, De Diego, Victor, Cuadras, Daniel, Martinez Monseny, Antonio F, Velázquez-Fragua, Ramón, López, Laura, Felipe, Ana, Gutiérrez-Solana, Luis G, Macaya, Alfons, Pérez-Dueñas, Belén, Serrano, Mercedes
Published in Orphanet journal of rare diseases (15.09.2017)
Published in Orphanet journal of rare diseases (15.09.2017)
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A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project - a 2-year follow-up study
Colón, Cristóbal, Alvarez, J Victor, Castaño, Cristina, Gutierrez-Solana, Luís G, Marquez, Ana M, O'Callaghan, María, Sánchez-Valverde, Félix, Yeste, Carmen, Couce, María-Luz
Published in Medicine (Baltimore) (01.05.2017)
Published in Medicine (Baltimore) (01.05.2017)
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Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG
Itzep, Débora, Martínez-Monseny, Antonio F, Bolasell, Mercè, Cuadras, Daniel, Velázquez-Fragua, Ramón, Gutierrez-Solana, Luis G, Macaya, Alfons, Pérez-Dueñas, Belén, Serrano, Mercedes
Published in Neuropediatrics (01.12.2018)
Published in Neuropediatrics (01.12.2018)
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Journal Article
Early Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia—Review of the Literature and a New Family
Duat Rodriguez, Anna, MD, PhD, Prochazkova, Michaela, MD, Santos Santos, Saturnino, MD, Rubio Cabezas, Oscar, MD, PhD, Cantarin Extremera, Veronica, MD, Gonzalez-Gutierrez-Solana, Luis, MD
Published in Pediatric neurology (01.06.2017)
Published in Pediatric neurology (01.06.2017)
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Journal Article
Clinical, polysomnographic and laboratory characteristics of narcolepsy–cataplexy in a sample of children and adolescents
Peraita-Adrados, Rosa, García-Peñas, Juan J, Ruiz-Falcó, Luz, Gutiérrez-Solana, Luis, López-Esteban, Pilar, Vicario, José L, Miano, Silvia, Aparicio-Meix, Manuel, Martinez-Sopena, María-José
Published in Sleep medicine (01.01.2011)
Published in Sleep medicine (01.01.2011)
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Autoimmune post-herpes simplex encephalitis of adults and teenagers
Armangue, Thaís, Moris, Germán, Cantarín-Extremera, Verónica, Conde, Carlos Enrique, Rostasy, Kevin, Erro, Maria Elena, Portilla-Cuenca, Juan Carlos, Turón-Viñas, Eulàlia, Málaga, Ignacio, Muñoz-Cabello, Beatriz, Torres-Torres, Carmen, Llufriu, Sara, González-Gutiérrez-Solana, Luis, González, Guillermo, Casado-Naranjo, Ignacio, Rosenfeld, Myrna, Graus, Francesc, Dalmau, Josep
Published in Neurology (17.11.2015)
Published in Neurology (17.11.2015)
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Clinical Case of Anti- N -methyl- d -aspartate Receptor Encephalitis in an 8-Month-Old Patient With Hyperkinetic Movement Disorder
Cantarín-Extremera, Verónica, MD, Duat-Rodríguez, Anna, MD, González-Gutiérrez-Solana, Luis, MD, López-Marín, Laura, MD, Armangue, Thaís, MD
Published in Pediatric neurology (01.05.2013)
Published in Pediatric neurology (01.05.2013)
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Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant
Arrabal, Luisa, Teresa, Libertad, Sánchez-Alcudia, Rocío, Castro, Margarita, Medrano, Celia, Gutiérrez-Solana, Luis, Roldán, Susana, Ormazábal, Aida, Pérez-Cerdá, Celia, Merinero, Begoña, Pérez, Belén, Artuch, Rafael, Ugarte, Magdalena, Desviat, Lourdes R.
Published in Neurogenetics (01.08.2011)
Published in Neurogenetics (01.08.2011)
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Immune-Mediated Mechanisms in the Pathogenesis of Hopkins Syndrome
Cantarín-Extremera, Verónica, MD, González-Gutiérrez-Solana, Luis, MD, Ramírez-Orellana, Manuel, MD, PhD, López-Marín, Laura, MD, Duat-Rodríguez, Anna, MD, Ruíz-Falcó-Rojas, Maria Luz, MD
Published in Pediatric neurology (01.11.2012)
Published in Pediatric neurology (01.11.2012)
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AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG)
Martínez‐Monseny, Antonio F., Bolasell, Mercè, Callejón‐Póo, Laura, Cuadras, Daniel, Freniche, Verónica, Itzep, Débora C., Gassiot, Susanna, Arango, Pedro, Casas‐Alba, Didac, Morena, Eugenia, Corral, Javier, Montero, Raquel, Pérez‐Cerdá, Celia, Pérez, Belén, Artuch, Rafael, Jaeken, Jaak, Serrano, Mercedes, Velázquez‐Fragua, Ramón, García, Oscar, Gutierrez‐Solana, Luis G, Macaya, Alfons, Pérez‐Dueñas, Belén, Aguilera‐Albesa, Sergio, López, Laura, Miranda, Ma Concepción, Carratala, Francisco, Yoldi, M Eugenia, López‐Laso, Eduardo, Sierra‐Córcoles, Ma Concepción, Sebastián‐García, Irma, Aísa, Eduardo, Cancho‐Candela, Ramon, Carrasco‐Marina, M Llanos, Couce, María L., Roldán, Susana, Muchart, Jordi, Morales, Montserrat, Conde‐Lorenzo, Noemi
Published in Annals of neurology (01.05.2019)
Published in Annals of neurology (01.05.2019)
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Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
Verdura, Edgard, Rodríguez-Palmero, Agustí, Vélez-Santamaria, Valentina, Planas-Serra, Laura, de la Calle, Irene, Raspall-Chaure, Miquel, Roubertie, Agathe, Benkirane, Mehdi, Saettini, Francesco, Pavinato, Lisa, Mandrile, Giorgia, O'Leary, Melanie, O'Heir, Emily, Barredo, Estibaliz, Chacón, Almudena, Michaud, Vincent, Goizet, Cyril, Ruiz, Montserrat, Schlüter, Agatha, Rouvet, Isabelle, Sala-Coromina, Julia, Fossati, Chiara, Iascone, Maria, Canonico, Francesco, Marcé-Grau, Anna, de Souza, Precilla, Adams, David R, Casasnovas, Carlos, Rehm, Heidi L, Mefford, Heather C, González Gutierrez-Solana, Luis, Brusco, Alfredo, Koenig, Michel, Macaya, Alfons, Pujol, Aurora
Published in Brain (London, England : 1878) (22.10.2021)
Published in Brain (London, England : 1878) (22.10.2021)
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Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C
Mirchi, Amytice, Guay, Simon-Pierre, Tran, Luan T, Wolf, Nicole I, Vanderver, Adeline, Brais, Bernard, Sylvain, Michel, Pohl, Daniela, Rossignol, Elsa, Saito, Michael, Moutton, Sebastien, González-Gutiérrez-Solana, Luis, Thiffault, Isabelle, Kruer, Michael C, Moron, Dolores Gonzales, Kauffman, Marcelo, Goizet, Cyril, Sztriha, László, Glamuzina, Emma, Melançon, Serge B, Naidu, Sakkubai, Retrouvey, Jean-Marc, Lacombe, Suzanne, Bernardino-Cuesta, Beatriz, De Bie, Isabelle, Bernard, Geneviève
Published in Journal of medical genetics (01.10.2023)
Published in Journal of medical genetics (01.10.2023)
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A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder
Fernández‐Marmiesse, Ana, Kusumoto, Hirofumi, Rekarte, Saray, Roca, Iria, Zhang, Jin, Myers, Scott J., Traynelis, Stephen F., Couce, Mª Luz, Gutierrez‐Solana, Luis, Yuan, Hongjie
Published in Movement disorders (01.07.2018)
Published in Movement disorders (01.07.2018)
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Procalcitonin, a high acute phase reactant in antiepileptic hypersentivity syndrome in pediatric age
Cantarín-Extremera, Verónica, Castaño-De La Mota, Cristina, Álvarez-Coca, Javier, Rojas, MariLuz Ruiz-Falcó, Gutierrez-Solana, Luis González, García Peñas, Juan José, Martínez-Pérez, Jorge, Duat-Rodríguez, Anna, López-Marín, Laura, Losada-Del Pozo, Rebeca
Published in European journal of paediatric neurology (01.03.2012)
Published in European journal of paediatric neurology (01.03.2012)
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Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II
Muenzer, Joseph, Burton, Barbara K, Harmatz, Paul, Gutiérrez-Solana, Luis González, Ruiz-Garcia, Matilde, Jones, Simon A, Guffon, Nathalie, Inbar-Feigenberg, Michal, Bratkovic, Drago, Rust, Stewart, Hale, Michael, Wu, Yuna, Yee, Karen S, Whiteman, David A H, Alexanderian, David
Published in Journal of inherited metabolic disease (09.09.2024)
Published in Journal of inherited metabolic disease (09.09.2024)
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