Severe congenital X-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variant von 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

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A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset von Marcos, Ana T., Amorós, Diego, Muñoz-Cabello, Beatriz, Galán, Francisco, Rivas Infante, Eloy, Alcaraz‐Mas, Luis, Navarro‐Pando, José M.

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Neuropeptides in the developing human hippocampus under hypoxic–ischemic conditions von 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

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Lessons learned from a sporadic FUSopathy in a young man: a case report von García-Roldán, Ernesto, Rivas-Infante, Eloy, Medina-Rodríguez, Manuel, Arriola-Infante, José Enrique, Rodrigo-Herrero, Silvia, Paradas, Carmen, Rábano-Gutiérrez, Alberto, Franco-Macías, Emilio

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Secondary coenzyme Q 10 deficiency triggers mitochondria degradation by mitophagy in MELAS fibroblasts von Cotán, David, Cordero, Mario D., Garrido‐Maraver, Juan, Oropesa‐Avila, Manuel, Rodríguez‐Hernández, Ángeles, Izquierdo, Lourdes Gómez, Mata, Mario De la, Miguel, Manuel De, Lorite, Juan Bautista, Infante, Eloy Rivas, Jackson, Sandra, Navas, Plácido, Sánchez‐Alcázar, José A.

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Conus medullaris syndrome caused by intravascular large B cell lymphoma von González-Pombo, Marta, Ordóñez-Carmona, Marta, Infante, Eloy Rivas

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Screening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the disease von 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

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Mainly subarachnoid amyloid angiopathy with pseudotumoral course von Emilio, Franco-Macías, Nuria, Cerdá-Fuertes, Eloy, Rivas-Infante, Florinda, Roldán-Lora, Rainiero, Ávila-Polo, Francisco, Moniche

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Study of the human hippocampal formation: a method for histological and magnetic resonance correlation in perinatal cases von 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

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Central nervous system involvement in adult-onset relapsing hemophagocytic lymphohistiocytosis responsive to maintenance treatment with anakinra von 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

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Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders von 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

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Lacosamide intake during pregnancy increases the incidence of foetal malformations and symptoms associated with schizophrenia in the offspring of mice von 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

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TK2 Mutation Presenting as Indolent Myopathy (P07.026) von Paradas Lopez, Carmen, Gutierrez Rios, Purificacion, Rivas Infante, Eloy, Carbonell, Pilar, Hirano, Michio, DiMauro, Salvatore

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Enfermedad de Erdheim-Chester von García-Gómez, Francisco Javier, Acevedo-Báñez, Irene, Rivas-Infante, Eloy, Borrego-Dorado, Isabel

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Conus medullaris syndrome caused by intravascular large B cell lymphoma von González-Pombo, Marta, Ordóñez-Carmona, Marta, Infante, Eloy Rivas

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Acquired eyelid ptosis as a sign of mitochondrial disease von Sánchez, Verónica García, Oliva, Patricia Salazar, Outon, Paloma Rodríguez, López, Manuel Fernández, Barroso Macias, Ana Isabel, Infante, Eloy Rivas

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Recovery of MERRF Fibroblasts and Cybrids Pathophysiology by Coenzyme Q10 von 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.

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Phenotypic variability in a Spanish family with a Caveolin-3 mutation von González-Pérez, Paloma, Gallano, Pía, González-Quereda, Lidia, Rivas-Infante, Eloy, Teijeira, Susana, Navarro, Carmen, Bautista-Lorite, Juan

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Miotomía del cricofaríngeo en el tratamiento de la distrofia muscular oculofaríngea von Gómez-Torres, Antonio, Abrante Jiménez, Antonio, Rivas Infante, Eloy, Menoyo Bueno, Alicia, Tirado Zamora, Isabel, Esteban Ortega, Francisco

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Cricopharyngeal Myotomy in the Treatment of Oculopharyngeal Muscular Dystrophy von Gómez-Torres, Antonio, Abrante Jiménez, Antonio, Rivas Infante, Eloy, Menoyo Bueno, Alicia, Tirado Zamora, Isabel, Esteban Ortega, Francisco

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