Headache and sleep quality in mitochondrial diseases by Alejandro Herrero San Martin, Cristina Dominguez Gonzalez, Montserrat Morales Conejo, Maria Elena Hernández Salas, Jesús Hernández Gallego

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Survey on the management of Pompe disease in routine clinical practice in Spain by Cristina Domínguez-González, Carmina Díaz-Marín, Raúl Juntas-Morales, Andrés Nascimiento-Osorio, Alberto Rivera-Gallego, Jordi Díaz-Manera

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Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency by Carlos Pablo de Fuenmayor-Fernández de la Hoz, Germán Morís, Cecilia Jiménez-Mallebrera, Carmen Badosa, Aurelio Hernández-Laín, Alberto Blázquez Encinar, Miguel Ángel Martín, Cristina Domínguez-González

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Altered Expression Ratio of Actin-Binding Gelsolin Isoforms Is a Novel Hallmark of Mitochondrial OXPHOS Dysfunction by Alberto García-Bartolomé, Ana Peñas, María Illescas, Verónica Bermejo, Sandra López-Calcerrada, Rafael Pérez-Pérez, Lorena Marín-Buera, Cristina Domínguez-González, Joaquín Arenas, Miguel A. Martín, Cristina Ugalde

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Preferent Diaphragmatic Involvement in TK2 Deficiency: An Autopsy Case Study by Sara Laine-Menéndez, Cristina Domínguez-González, Alberto Blázquez, Aitor Delmiro, Inés García-Consuegra, Miguel Fernández-de la Torre, Aurelio Hernández-Laín, Javier Sayas, Miguel Ángel Martín, María Morán

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Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency by Cristina Domínguez-González, Marcos Madruga-Garrido, Michio Hirano, Itxaso Martí, Miguel A. Martín, Francina Munell, Andrés Nascimento, Montse Olivé, Joanne Quan, M. Dolores Sardina, Ramon Martí, Carmen Paradas

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Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies by Mariana I. Muñoz-García, María Paz Guerrero-Molina, Carlos Pablo de Fuenmayor-Fernández de la Hoz, Laura Bermejo-Guerrero, Ana Arteche-López, Aurelio Hernández-Laín, Miguel A. Martín, Cristina Domínguez-González

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Plasma Gelsolin Reinforces the Diagnostic Value of FGF-21 and GDF-15 for Mitochondrial Disorders by Ana Peñas, Miguel Fernández-De la Torre, Sara Laine-Menéndez, David Lora, María Illescas, Alberto García-Bartolomé, Montserrat Morales-Conejo, Joaquín Arenas, Miguel A. Martín, María Morán, Cristina Domínguez-González, Cristina Ugalde

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Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the <i>LDHA</i> Gene (GSD XI) by Pablo Serrano-Lorenzo, María Rabasa, Jesús Esteban, Irene Hidalgo Mayoral, Cristina Domínguez-González, Agustín Blanco-Echevarría, Rocío Garrido-Moraga, Alejandro Lucia, Alberto Blázquez, Juan C. Rubio, Carmen Palma-Milla, Joaquín Arenas, Miguel A. Martín

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Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis by Inés García-Consuegra, Sara Asensio-Peña, Rocío Garrido-Moraga, Tomàs Pinós, Cristina Domínguez-González, Alfredo Santalla, Gisela Nogales-Gadea, Pablo Serrano-Lorenzo, Antoni L. Andreu, Joaquín Arenas, José L. Zugaza, Alejandro Lucia, Miguel A. Martín

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Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies by Sofia Barbosa-Gouveia, Maria Eugenia Vázquez-Mosquera, Emiliano González-Vioque, Álvaro Hermida-Ameijeiras, Paula Sánchez-Pintos, Maria José de Castro, Soraya Ramiro León, Belén Gil-Fournier, Cristina Domínguez-González, Ana Camacho Salas, Luis Negrão, Isabel Fineza, Francisco Laranjeira, Maria Luz Couce

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Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syn... by Laura Bermejo-Guerrero, Carlos Pablo de Fuenmayor-Fernández de la Hoz, María Paz Guerrero-Molina, Paloma Martín-Jiménez, Alberto Blázquez, Pablo Serrano-Lorenzo, David Lora, Montserrat Morales-Conejo, Irene González-Martínez, Elena Ana López-Jiménez, Miguel A. Martín, Cristina Domínguez-González

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Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to <i>TWNK</i> Mutations by Laura Bermejo-Guerrero, Carlos Pablo de Fuenmayor-Fernández de la Hoz, Pablo Serrano-Lorenzo, Alberto Blázquez-Encinar, Gerardo Gutiérrez-Gutiérrez, Laura Martínez-Vicente, Lucía Galán-Dávila, Jorge García-García, Joaquín Arenas, Nuria Muelas, Aurelio Hernández-Laín, Cristina Domínguez-González, Miguel A. Martín

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Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration by Patricia Piñol-Jurado, José Verdú-Díaz, Esther Fernández-Simón, Cristina Domínguez-González, Aurelio Hernández-Lain, Conor Lawless, Amy Vincent, Alejandro González-Chamorro, Elisa Villalobos, Alexandra Monceau, Zoe Laidler, Priyanka Mehra, James Clark, Andrew Filby, David McDonald, Paul Rushton, Andrew Bowey, Jorge Alonso Pérez, Giorgio Tasca, Chiara Marini-Bettolo, Michela Guglieri, Volker Straub, Xavier Suárez-Calvet, Jordi Díaz-Manera

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Late-onset thymidine kinase 2 deficiency: a review of 18 cases by Cristina Domínguez-González, Aurelio Hernández-Laín, Eloy Rivas, Ana Hernández-Voth, Javier Sayas Catalán, Roberto Fernández-Torrón, Carmen Fuiza-Luces, Jorge García García, Germán Morís, Montse Olivé, Frances Miralles, Jordi Díaz-Manera, Candela Caballero, Bosco Méndez-Ferrer, Ramon Martí, Elena García Arumi, María Carmen Badosa, Jesús Esteban, Cecilia Jimenez-Mallebrera, Alberto Blazquez Encinar, Joaquín Arenas, Michio Hirano, Miguel Ángel Martin, Carmen Paradas

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Autoantibody screening in Guillain–Barré syndrome by Cinta Lleixà, Lorena Martín-Aguilar, Elba Pascual-Goñi, Teresa Franco, Marta Caballero, Noemí de Luna, Eduard Gallardo, Xavier Suárez-Calvet, Laura Martínez-Martínez, Jordi Diaz-Manera, Ricard Rojas-García, Elena Cortés-Vicente, Joana Turón, Carlos Casasnovas, Christian Homedes, Gerardo Gutiérrez-Gutiérrez, María Concepción Jimeno-Montero, José Berciano, Maria José Sedano-Tous, Tania García-Sobrino, Julio Pardo-Fernández, Celedonio Márquez-Infante, Iñigo Rojas-Marcos, Ivonne Jericó-Pascual, Eugenia Martínez-Hernández, Germán Morís de la Tassa, Cristina Domínguez-González, Cándido Juárez, Isabel Illa, Luis Querol

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