Severe congenital X-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variant
Blanco-Arias, Patricia, Medina Martínez, Inmaculada, Arrabal Fernández, Luisa, Rivas Infante, Eloy, Salmerón Fernández, Maria Jose, González Hervás, Catalina, Azcón González de Aguilar, Pilar, Armengol, Lluis, Pedrinaci, Susana, Perin, Francesca
Published in Neuromuscular disorders : NMD (01.07.2023)
Published in Neuromuscular disorders : NMD (01.07.2023)
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Journal Article
A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset
Marcos, Ana T., Amorós, Diego, Muñoz-Cabello, Beatriz, Galán, Francisco, Rivas Infante, Eloy, Alcaraz‐Mas, Luis, Navarro‐Pando, José M.
Published in Molecular genetics & genomic medicine (01.08.2020)
Published in Molecular genetics & genomic medicine (01.08.2020)
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Journal Article
Neuropeptides in the developing human hippocampus under hypoxic–ischemic conditions
González Fuentes, Joaquín, Insausti Serrano, Ricardo, Cebada Sánchez, Sandra, Lagartos Donate, Maria José, Rivas Infante, Eloy, Arroyo Jiménez, María del Mar, Marcos Rabal, María del Pilar
Published in Journal of anatomy (01.10.2021)
Published in Journal of anatomy (01.10.2021)
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Journal Article
Lessons learned from a sporadic FUSopathy in a young man: a case report
García-Roldán, Ernesto, Rivas-Infante, Eloy, Medina-Rodríguez, Manuel, Arriola-Infante, José Enrique, Rodrigo-Herrero, Silvia, Paradas, Carmen, Rábano-Gutiérrez, Alberto, Franco-Macías, Emilio
Published in BMC neurology (02.02.2023)
Published in BMC neurology (02.02.2023)
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Journal Article
Conus medullaris syndrome caused by intravascular large B cell lymphoma
González-Pombo, Marta, Ordóñez-Carmona, Marta, Infante, Eloy Rivas
Published in Hematology, Transfusion and Cell Therapy (01.01.2023)
Published in Hematology, Transfusion and Cell Therapy (01.01.2023)
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Journal Article
Screening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the disease
Garrido‐Maraver, Juan, Cordero, Mario D, Moñino, Irene Domínguez, Pereira‐Arenas, Sheila, Lechuga‐Vieco, Ana V, Cotán, David, De la Mata, Mario, Oropesa‐Ávila, Manuel, De Miguel, Manuel, Bautista Lorite, Juan, Rivas Infante, Eloy, Álvarez‐Dolado, Manuel, Navas, Plácido, Jackson, Sandra, Francisci, Silvia, Sánchez‐Alcázar, José A
Published in British journal of pharmacology (01.11.2012)
Published in British journal of pharmacology (01.11.2012)
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Journal Article
Study of the human hippocampal formation: a method for histological and magnetic resonance correlation in perinatal cases
González Fuentes, Joaquín, Cebada-Sánchez, Sandra, Arroyo-Jiménez, Maria del Mar, Muñoz-López, Mónica, Rivas-Infante, Eloy, Lozano, Guillermo, Mansilla, Francisco, Cortes, Francisca, Insausti, Ricardo, Marcos, Pilar
Published in Brain imaging and behavior (01.08.2023)
Published in Brain imaging and behavior (01.08.2023)
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Journal Article
Central nervous system involvement in adult-onset relapsing hemophagocytic lymphohistiocytosis responsive to maintenance treatment with anakinra
Hiraldo, Juan Diego Guerra, Domínguez-Mayoral, Ana, García-Gómez, Francisco Javier, Fouz-Rosón, Natalia, Rivas-Infante, Eloy, Cano, Marco Antonio Montes, Fernández, Alicia Rodríguez, Morillo, Salvador García, Fernández, Nayua Alkadi, de León, Jose Antonio Pérez, Mascarell, Guillermo Navarro, Lebrón, Carmen Vargas
Published in Journal of neuroimmunology (15.06.2021)
Published in Journal of neuroimmunology (15.06.2021)
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Journal Article
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
Yubero, Delia, Montero, Raquel, Martín, Miguel A, Montoya, Julio, Ribes, Antonia, Grazina, Manuela, Trevisson, Eva, Rodriguez-Aguilera, Juan Carlos, Hargreaves, Iain P, Salviati, Leonardo, Navas, Plácido, Artuch, Rafael, Jou, Cristina, Jimenez-Mallebrera, Cecilia, Nascimento, Andres, Pérez-Dueñas, Belén, Ortez, Carlos, Ramos, Federico, Colomer, Jaume, O'Callaghan, Mar, Pineda, Mercè, García-Cazorla, Angels, Espinós, Carmina, Ruiz, Angels, Macaya, Alfons, Marcé-Grau, Anna, Garcia-Villoria, Judit, Arias, Angela, Emperador, Sonia, Ruiz-Pesini, Eduardo, Lopez-Gallardo, Ester, Neergheen, Viruna, Simões, Marta, Diogo, Luisa, Blázquez, Alberto, González-Quintana, Adrián, Delmiro, Aitor, Domínguez-González, Cristina, Arenas, Joaquín, García-Silva, M Teresa, Martín, Elena, Quijada, Pilar, Hernández-Laín, Aurelio, Morán, María, Rivas Infante, Eloy, Ávila Polo, Rainiero, Paradas Lópe, Carmen, Bautista Lorite, Juan, Martínez Fernández, Eva M, Cortés, Ana B, Sánchez-Cuesta, Ana, Cascajo, Maria V, Alcázar, María, Brea-Calvo, Gloria
Published in Mitochondrion (01.09.2016)
Published in Mitochondrion (01.09.2016)
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Journal Article
Lacosamide intake during pregnancy increases the incidence of foetal malformations and symptoms associated with schizophrenia in the offspring of mice
López-Escobar, Beatriz, Fernández-Torres, Rut, Vargas-López, Viviana, Villar-Navarro, Mercedes, Rybkina, Tatyana, Rivas-Infante, Eloy, Hernández-Viñas, Ayleen, Álvarez del Vayo, Concepción, Caro-Vega, José, Sánchez-Alcázar, José A., González-Meneses, Antonio, Carrión, M. Ángel, Ybot-González, Patricia
Published in Scientific reports (06.05.2020)
Published in Scientific reports (06.05.2020)
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Journal Article
Conus medullaris syndrome caused by intravascular large B cell lymphoma
González-Pombo, Marta, Ordóñez-Carmona, Marta, Infante, Eloy Rivas
Published in Hematology, transfusion and cell therapy (01.03.2023)
Published in Hematology, transfusion and cell therapy (01.03.2023)
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Journal Article
Acquired eyelid ptosis as a sign of mitochondrial disease
Sánchez, Verónica García, Oliva, Patricia Salazar, Outon, Paloma Rodríguez, López, Manuel Fernández, Barroso Macias, Ana Isabel, Infante, Eloy Rivas
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
Recovery of MERRF Fibroblasts and Cybrids Pathophysiology by Coenzyme Q10
De la Mata, Mario, Garrido-Maraver, Juan, Cotán, David, Cordero, Mario D., Oropesa-Ávila, Manuel, Izquierdo, Lourdes Gómez, De Miguel, Manuel, Lorite, Juan Bautista, Infante, Eloy Rivas, Ybot, Patricia, Jackson, Sandra, Sánchez-Alcázar, José A.
Published in Neurotherapeutics (01.04.2012)
Published in Neurotherapeutics (01.04.2012)
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Journal Article
Phenotypic variability in a Spanish family with a Caveolin-3 mutation
González-Pérez, Paloma, Gallano, Pía, González-Quereda, Lidia, Rivas-Infante, Eloy, Teijeira, Susana, Navarro, Carmen, Bautista-Lorite, Juan
Published in Journal of the neurological sciences (15.01.2009)
Published in Journal of the neurological sciences (15.01.2009)
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Journal Article
Recovery of MERRF Fibroblasts and Cybrids Pathophysiology by Coenzyme Q^sub 10
De la Mata, Mario, Garrido-maraver, Juan, Cotán, David, Cordero, Mario D, Oropesa-Ávila, Manuel, Izquierdo, Lourdes Gómez, De Miguel, Manuel, Lorite, Juan Bautista, Infante, Eloy Rivas, Ybot, Patricia, Jackson, Sandra, Sánchez-alcázar, José A
Published in Neurotherapeutics (01.04.2012)
Published in Neurotherapeutics (01.04.2012)
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Journal Article
Cricopharyngeal myotomy in the treatment of oculopharyngeal muscular dystrophy
Gómez-Torres, Antonio, Abrante Jiménez, Antonio, Rivas Infante, Eloy, Menoyo Bueno, Alicia, Tirado Zamora, Isabel, Esteban Ortega, Francisco
Published in Acta otorrinolaringologica espanola (01.11.2012)
Published in Acta otorrinolaringologica espanola (01.11.2012)
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Journal Article
Secondary coenzyme Q10 deficiency triggers mitochondria degradation by mitophagy in MELAS fibroblasts
Cotán, David, Cordero, Mario D, Garrido-Maraver, Juan, Oropesa-Ávila, Manuel, Rodríguez-Hernández, Angeles, Gómez Izquierdo, Lourdes, De la Mata, Mario, De Miguel, Manuel, Lorite, Juan Bautista, Infante, Eloy Rivas, Jackson, Sandra, Navas, Plácido, Sánchez-Alcázar, José A
Published in The FASEB journal (01.08.2011)
Published in The FASEB journal (01.08.2011)
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Journal Article
Cricopharyngeal Myotomy in the Treatment of Oculopharyngeal Muscular Dystrophy
Gómez-Torres, Antonio, Abrante Jiménez, Antonio, Rivas Infante, Eloy, Menoyo Bueno, Alicia, Tirado Zamora, Isabel, Esteban Ortega, Francisco
Published in Acta otorrinolaringológica española (English) (01.11.2012)
Published in Acta otorrinolaringológica española (English) (01.11.2012)
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Journal Article
Secondary coenzyme Q 10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
Yubero, Delia, Montero, Raquel, Martín, Miguel A., Montoya, Julio, Ribes, Antonia, Grazina, Manuela, Trevisson, Eva, Rodriguez-Aguilera, Juan Carlos, Hargreaves, Iain P., Salviati, Leonardo, Navas, Plácido, Artuch, Rafael, Jou, Cristina, Jimenez-Mallebrera, Cecilia, Nascimento, Andres, Pérez-Dueñas, Belén, Ortez, Carlos, Ramos, Federico, Colomer, Jaume, O’Callaghan, Mar, Pineda, Mercè, García-Cazorla, Angels, Espinós, Carmina, Ruiz, Angels, Macaya, Alfons, Marcé-Grau, Anna, Garcia-Villoria, Judit, Arias, Angela, Emperador, Sonia, Ruiz-Pesini, Eduardo, Lopez-Gallardo, Ester, Neergheen, Viruna, Simões, Marta, Diogo, Luisa, Blázquez, Alberto, González-Quintana, Adrián, Delmiro, Aitor, Domínguez-González, Cristina, Arenas, Joaquín, García-Silva, Mª Teresa, Martín, Elena, Quijada, Pilar, Hernández-Laín, Aurelio, Morán, María, Rivas Infante, Eloy, Ávila Polo, Rainiero, Paradas Lópe, Carmen, Bautista Lorite, Juan, Martínez Fernández, Eva M., Cortés, Ana B., Sánchez-Cuesta, Ana, Cascajo, Maria V., Alcázar, María, Brea-Calvo, Gloria
Published in Mitochondrion (01.09.2016)
Published in Mitochondrion (01.09.2016)
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Journal Article