CT angiography reconstruction of a rotational vertebral artery syndrome
Albajar, Ines, Larrea, Jose Angel, Imaz, Miren, Laña, Borja, Martí, Itxaso
Published in Archives of disease in childhood (01.08.2024)
Published in Archives of disease in childhood (01.08.2024)
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Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy
Dominguez-Gonzalez, Cristina, Badosa, Carmen, Madruga-Garrido, Marcos, Martí, Itxaso, Paradas, Carmen, Ortez, Carlos, Diaz-Manera, Jordi, Berardo, Andres, Alonso-Pérez, Jorge, Trifunov, Selena, Cuadras, Daniel, Kalko, Susana G, Blázquez-Bermejo, Cora, Cámara, Yolanda, Martí, Ramon, Mavillard, Fabiola, Martin, Miguel A, Montoya, Julio, Ruiz-Pesini, Eduardo, Villarroya, Joan, Montero, Raquel, Villarroya, Francesc, Artuch, Rafael, Hirano, Michio, Nascimento, Andrés, Jimenez-Mallebrera, Cecilia
Published in Scientific reports (22.06.2020)
Published in Scientific reports (22.06.2020)
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Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy
Domínguez‐González, Cristina, Madruga‐Garrido, Marcos, Mavillard, Fabiola, Garone, Caterina, Aguirre‐Rodríguez, Francisco Javier, Donati, M. Alice, Kleinsteuber, Karin, Martí, Itxaso, Martín‐Hernández, Elena, Morealejo‐Aycinena, Juan P., Munell, Francina, Nascimento, Andrés, Kalko, Susana G., Sardina, M. Dolores, Álvarez del Vayo, Concepcion, Serrano, Olga, Long, Yuelin, Tu, Yuqi, Levin, Bruce, Thompson, John L. P., Engelstad, Kristen, Uddin, Jasim, Torres‐Torronteras, Javier, Jimenez‐Mallebrera, Cecilia, Martí, Ramon, Paradas, Carmen, Hirano, Michio
Published in Annals of neurology (01.08.2019)
Published in Annals of neurology (01.08.2019)
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Enterovirus D68 Causing Acute Respiratory Infection: Clinical Characteristics and Differences With Acute Respiratory Infections Associated With Enterovirus Non-D68
Montes, Milagrosa, Oñate, Eider, Muguruza, Ainhoa, Tamayo, Esther, Martí Carrera, Itxaso, Iturzaeta, Ana, Cilla, Gustavo
Published in The Pediatric infectious disease journal (01.07.2019)
Published in The Pediatric infectious disease journal (01.07.2019)
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Journal Article
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency
Domínguez-González, Cristina, Madruga-Garrido, Marcos, Hirano, Michio, Martí, Itxaso, Martín, Miguel A, Munell, Francina, Nascimento, Andrés, Olivé, Montse, Quan, Joanne, Sardina, M Dolores, Martí, Ramon, Paradas, Carmen
Published in Orphanet journal of rare diseases (02.10.2021)
Published in Orphanet journal of rare diseases (02.10.2021)
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Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1
Piniella, Dolores, Canseco, Ania, Vidal, Silvia, Xiol, Clara, Díaz de Bustamante, Aránzazu, Martí-Carrera, Itxaso, Armstrong, Judith, Bastolla, Ugo, Zafra, Francisco
Published in International journal of molecular sciences (04.01.2023)
Published in International journal of molecular sciences (04.01.2023)
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The Use of Lower or Higher Than Recommended Doses of Folic Acid Supplements during Pregnancy Is Associated with Child Attentional Dysfunction at 4-5 Years of Age in the INMA Project
Compañ Gabucio, Laura María, García de la Hera, Manuela, Torres Collado, Laura, Fernández-Somoano, Ana, Tardón, Adonina, Guxens, Mònica, Vrijheid, Martine, Rebagliato, Marisa, Murcia, Mario, Ibarluzea, Jesús, Martí, Itxaso, Vioque, Jesús
Published in Nutrients (23.01.2021)
Published in Nutrients (23.01.2021)
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Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability
Ibarluzea, Nekane, Hoz, Ana Belén de la, Villate, Olatz, Llano, Isabel, Ocio, Intzane, Martí, Itxaso, Guitart, Miriam, Gabau, Elisabeth, Andrade, Fernando, Gener, Blanca, Tejada, María-Isabel
Published in Genes (02.01.2020)
Published in Genes (02.01.2020)
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Impact of COVID-19 in Immunosuppressed Children With Neuroimmunologic Disorders
Olivé-Cirera, Gemma, Fonseca, Elianet, Cantarín-Extremera, Verónica, Vázquez-López, María, Jiménez-Legido, María, González-Álvarez, Verónica, Ribeiro-Constante, Juliana, Camacho-Salas, Ana, Martí, Itxaso, Cancho-Candela, Ramon, Martínez-González, María Jesús, Saiz, Albert, Armangué, Thaís
Published in Neurology : neuroimmunology & neuroinflammation (01.01.2022)
Published in Neurology : neuroimmunology & neuroinflammation (01.01.2022)
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Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease
Paisán-Ruı́z, Coro, Jain, Shushant, Evans, E.Whitney, Gilks, William P., Simón, Javier, van der Brug, Marcel, de Munain, Adolfo López, Aparicio, Silvia, Gil, Angel Martı́nez, Khan, Naheed, Johnson, Janel, Martinez, Javier Ruiz, Nicholl, David, Carrera, Itxaso Marti, Peňa, Amets Saénz, de Silva, Rohan, Lees, Andrew, Martı́-Massó, José Félix, Pérez-Tur, Jordi, Wood, Nick W., Singleton, Andrew B.
Published in Neuron (Cambridge, Mass.) (18.11.2004)
Published in Neuron (Cambridge, Mass.) (18.11.2004)
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Herpes simplex virus encephalitis is a trigger of brain autoimmunity
Armangue, Thaís, Leypoldt, Frank, Málaga, Ignacio, Raspall-Chaure, Miquel, Marti, Itxaso, Nichter, Charles, Pugh, John, Vicente-Rasoamalala, Monica, Lafuente-Hidalgo, Miguel, Macaya, Alfons, Ke, Michael, Titulaer, Maarten J., Höftberger, Romana, Sheriff, Heather, Glaser, Carol, Dalmau, Josep
Published in Annals of neurology (01.02.2014)
Published in Annals of neurology (01.02.2014)
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Brain MRI abnormalities in muscular dystrophy due to FKRP mutations
Quijano-Roy, Susana, Martí-Carrera, Itxaso, Makri, Samira, Mayer, Michèle, Maugenre, Svetlana, Richard, Pascale, Berard, Carole, Viollet, Louis, Leheup, Bruno, Guicheney, Pascale, Pinard, Jean-Marc, Estournet, Brigitte, Y. Carlier, Robert
Published in Brain & development (Tokyo. 1979) (01.05.2006)
Published in Brain & development (Tokyo. 1979) (01.05.2006)
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Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy
Martínez-Rubio, Dolores, Hinarejos, Isabel, Argente-Escrig, Herminia, Marco-Marín, Clara, Lozano, María Ana, Gorría-Redondo, Nerea, Lupo, Vincenzo, Martí-Carrera, Itxaso, Miranda, Concepción, Vázquez-López, María, García-Pérez, Asunción, Marco-Hernández, Ana Victoria, Tomás-Vila, Miguel, Aguilera-Albesa, Sergio, Espinós, Carmen
Published in International journal of molecular sciences (01.11.2023)
Published in International journal of molecular sciences (01.11.2023)
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Trimetazidine induces parkinsonism, gait disorders and tremor
Martí Massó, José-Félix, Martí, Itxaso, Carrera, Nieves, Poza, Juan-José, López de Munain, Adolfo
Published in Therapie (01.07.2005)
Published in Therapie (01.07.2005)
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COVID-19 in children with neuromuscular disorders
Natera-de Benito, Daniel, Aguilera-Albesa, Sergio, Costa-Comellas, Laura, García-Romero, Mar, Miranda-Herrero, María Concepción, Rúbies Olives, Júlia, García-Campos, Óscar, Martínez del Val, Elena, Martinez Garcia, Maria Josefa, Medina Martínez, Inmaculada, Cancho-Candela, Ramón, Fernandez-Garcia, Miguel A., Pascual-Pascual, Samuel Ignacio, Gómez-Andrés, David, Nascimento, Andres
Published in Journal of neurology (01.09.2021)
Published in Journal of neurology (01.09.2021)
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ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
Schlüter, Agatha, Vélez-Santamaría, Valentina, Verdura, Edgard, Rodríguez-Palmero, Agustí, Ruiz, Montserrat, Fourcade, Stéphane, Planas-Serra, Laura, Launay, Nathalie, Guilera, Cristina, Martínez, Juan José, Homedes-Pedret, Christian, Albertí-Aguiló, M. Antonia, Zulaika, Miren, Martí, Itxaso, Troncoso, Mónica, Tomás-Vila, Miguel, Bullich, Gemma, García-Pérez, M. Asunción, Sobrido-Gómez, María-Jesús, López-Laso, Eduardo, Fons, Carme, Del Toro, Mireia, Macaya, Alfons, García-Cazorla, Àngels, Ortiz-Martínez, Antonio José, Ignacio-Ortez, Carlos, Cáceres-Marzal, Cristina, Martínez-Salcedo, Eduardo, Mondragón, Elisabet, Barredo, Estíbaliz, Airaldi, Ileana Antón, Martínez, Javier Ruiz, Ramos, Joaquin A. Fernández, Vázquez, Juan Francisco, Díez-Porras, Laura, Vázquez-Cancela, María, O’Callaghan, Mar, Sánchez, Tamara Pablo, Nedkova, Velina, Pérez, Ana Isabel Maraña, Beltran, Sergi, Gutiérrez-Solana, Luis G., Pérez-Jurado, Luis A., Aguilera-Albesa, Sergio, de Munain, Adolfo López, Casasnovas, Carlos, Pujol, Aurora
Published in Genome medicine (07.09.2023)
Published in Genome medicine (07.09.2023)
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Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy
Ribeiro-Constante, Juliana, Tristán-Noguero, Alba, Martínez Calvo, Fernando Francisco, Ibañez-Mico, Salvador, Peña Segura, José Luis, Ramos-Fernández, José Miguel, Moyano Chicano, María Del Carmen, Camino León, Rafael, Soto Insuga, Víctor, González Alguacil, Elena, Valera Dávila, Carlos, Fernández-Jaén, Alberto, Plans, Laura, Camacho, Ana, Visa-Reñé, Nuria, Martin-Tamayo Blázquez, María Del Pilar, Paredes-Carmona, Fernando, Marti-Carrera, Itxaso, Hernández-Fabián, Aránzazu, Tomas Davi, Meritxell, Sanchez, Merce Casadesus, Herraiz, Laura Cuesta, Pita, Patricia Fuentes, Gonzalez, Teresa Bermejo, O'Callaghan, Mar, Iglesias Santa Polonia, Federico Felipe, Cazorla, María Rosario, Ferrando Lucas, María Teresa, González-Meneses, Antonio, Sala-Coromina, Júlia, Macaya, Alfons, Lasa-Aranzasti, Amaia, Cueto-González, Anna Ma, Valera Párraga, Francisca, Campistol Plana, Jaume, Serrano, Mercedes, Alonso, Xenia, Del Castillo-Berges, Diego, Schwartz-Palleja, Marc, Illescas, Sofía, Ramírez Camacho, Alia, Sans Capdevila, Oscar, García-Cazorla, Angeles, Bayés, Àlex, Alonso-Colmenero, Itziar
Published in Frontiers in cell and developmental biology (05.03.2024)
Published in Frontiers in cell and developmental biology (05.03.2024)
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