Enterovirus D68 Causing Acute Respiratory Infection: Clinical Characteristics and Differences With Acute Respiratory Infections Associated With Enterovirus Non-D68
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Published in The Pediatric infectious disease journal (01.07.2019)
Published in The Pediatric infectious disease journal (01.07.2019)
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Published in International journal of molecular sciences (04.01.2023)
Published in International journal of molecular sciences (04.01.2023)
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Brain MRI abnormalities in muscular dystrophy due to FKRP mutations
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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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Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation
Muñoz-Oreja, Mikel, Sandoval, Abigail, Bruland, Ove, Perez-Rodriguez, Diego, Fernandez-Pelayo, Uxoa, de Arbina, Amaia Lopez, Villar-Fernandez, Marina, Hernández-Eguiazu, Haizea, Hernández, Ixiar, Park, Yohan, Goicoechea, Leire, Pascual-Frías, Nerea, Garcia-Ruiz, Carmen, Fernandez-Checa, Jose, Martí-Carrera, Itxaso, Gil-Bea, Francisco Javier, Hasan, Mazahir T, Gegg, Matthew E, Bredrup, Cecilie, Knappskog, Per-Morten, Gereñu-Lopetegui, Gorka, Varhaug, Kristin N, Bindoff, Laurence A, Spinazzola, Antonella, Yoon, Wan Hee, Holt, Ian J
Published in Brain (London, England : 1878) (03.05.2024)
Published in Brain (London, England : 1878) (03.05.2024)
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Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias
Martínez-Rubio, Dolores, Hinarejos, Isabel, Sancho, Paula, Gorría-Redondo, Nerea, Bernadó-Fonz, Raquel, Tello, Cristina, Marco-Marín, Clara, Martí-Carrera, Itxaso, Martínez-González, María Jesús, García-Ribes, Ainhoa, Baviera-Muñoz, Raquel, Sastre-Bataller, Isabel, Martínez-Torres, Irene, Duat-Rodríguez, Anna, Janeiro, Patrícia, Moreno, Esther, Pías-Peleteiro, Leticia, Gordo, Mar O’Callaghan, Ruiz-Gómez, Ángeles, Muñoz, Esteban, Martí, Maria Josep, Sánchez-Monteagudo, Ana, Fuster, Candela, Andrés-Bordería, Amparo, Pons, Roser Maria, Jesús-Maestre, Silvia, Mir, Pablo, Lupo, Vincenzo, Pérez-Dueñas, Belén, Darling, Alejandra, Aguilera-Albesa, Sergio, Espinós, Carmen
Published in International journal of molecular sciences (01.10.2022)
Published in International journal of molecular sciences (01.10.2022)
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Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis
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Published in Lancet neurology (01.09.2018)
Published in Lancet neurology (01.09.2018)
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Published in Lancet neurology (01.03.2020)
Published in Lancet neurology (01.03.2020)
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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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Severity of GNAO1‐Related Disorder Correlates with Changes in G‐Protein Function
Domínguez‐Carral, Jana, Ludlam, William Grant, Junyent Segarra, Mar, Fornaguera Marti, Montserrat, Balsells, Sol, Muchart, Jordi, Čokolić Petrović, Dunja, Espinoza, Iván, Ortigoza‐Escobar, Juan Dario, Martemyanov, Kirill A., Armstrong, Judith, Blanco‐Lago, Raquel, Bou, Rosa, Cáceres‐Marzal, Cristina, Cancho‐Candela, Ramón, Candela, Santiago, Darling, Alejandra, Los Santos, Mariela Mercedes, García‐Cazorla, Angels, Martí‐Carrera, Itxaso, Martorell, Loreto, Mateos Checa, Rosario, Meavilla, Silvia, Mínguez Rodríguez, Beatriz, Pantoja, Jorge, Pías, Leticia, Parra Plantagenet‐Whyte, Fátima, Pinillos, Sergio, Ruiz‐Hernández, Carlos José, Rumià, Jordi, Caballero Pérez, Victoria, Salvador Cañibano, Maria, Yubero, Delia
Published in Annals of neurology (01.11.2023)
Published in Annals of neurology (01.11.2023)
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Environmental health knowledge of healthcare professionals: Instrument development and validation using the Rasch model
Vrotsou, Kalliopi, Subiza-Pérez, Mikel, Lertxundi, Aitana, Vergara, Itziar, Marti-Carrera, Itxaso, Ochoa de Retana, Lourdes, Duo, Irene, Ibarluzea, Jesus
Published in Environmental research (15.10.2023)
Published in Environmental research (15.10.2023)
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Labayru Isusquiza, Garazi, Arrizabalaga, Ane, Santos, Andrea, Aliri Lazcano, Jone, Marti Carrera, Itxaso, Sistiaga Berrondo, Andone
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Published in Uztaro. Giza eta gizarte-zientzien aldizkaria (15.06.2022)
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Published in Uztaro. Giza eta gizarte-zientzien aldizkaria (29.04.2020)
Published in Uztaro. Giza eta gizarte-zientzien aldizkaria (29.04.2020)
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Genetic diagnosis of basal ganglia disease in childhood
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Published in Developmental medicine and child neurology (01.06.2022)
Published in Developmental medicine and child neurology (01.06.2022)
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Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study
Jansen, Anna C, Belousova, Elena, Benedik, Mirjana P, Carter, Tom, Cottin, Vincent, Curatolo, Paolo, D'Amato, Lisa, Beaure d'Augères, Guillaume, de Vries, Petrus J, Ferreira, José C, Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A, Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Kingswood, John C
Published in Frontiers in neurology (2019)
Published in Frontiers in neurology (2019)
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