Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency
de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Morís, Germán, Jiménez-Mallebrera, Cecilia, Badosa, Carmen, Hernández-Laín, Aurelio, Blázquez Encinar, Alberto, Martín, Miguel Ángel, Domínguez-González, Cristina
Published in Molecular genetics and metabolism reports (01.03.2021)
Published in Molecular genetics and metabolism reports (01.03.2021)
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Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update
Santalla, Alfredo, Nogales-Gadea, Gisela, Encinar, Alberto Blázquez, Vieitez, Irene, González-Quintana, Adrian, Serrano-Lorenzo, Pablo, Consuegra, Inés García, Asensio, Sara, Ballester-Lopez, Alfonsina, Pintos-Morell, Guillem, Coll-Cantí, Jaume, Pareja-Galeano, Helios, Díez-Bermejo, Jorge, Pérez, Margarita, Andreu, Antoni L, Pinós, Tomàs, Arenas, Joaquín, Martín, Miguel A, Lucia, Alejandro
Published in BMC genomics (14.11.2017)
Published in BMC genomics (14.11.2017)
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Late-onset thymidine kinase 2 deficiency: a review of 18 cases
Domínguez-González, Cristina, Hernández-Laín, Aurelio, Rivas, Eloy, Hernández-Voth, Ana, Sayas Catalán, Javier, Fernández-Torrón, Roberto, Fuiza-Luces, Carmen, García García, Jorge, Morís, Germán, Olivé, Montse, Miralles, Frances, Díaz-Manera, Jordi, Caballero, Candela, Méndez-Ferrer, Bosco, Martí, Ramon, García Arumi, Elena, Badosa, María Carmen, Esteban, Jesús, Jimenez-Mallebrera, Cecilia, Encinar, Alberto Blazquez, Arenas, Joaquín, Hirano, Michio, Martin, Miguel Ángel, Paradas, Carmen
Published in Orphanet journal of rare diseases (06.05.2019)
Published in Orphanet journal of rare diseases (06.05.2019)
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Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations
Bermejo-Guerrero, Laura, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Serrano-Lorenzo, Pablo, Blázquez-Encinar, Alberto, Gutiérrez-Gutiérrez, Gerardo, Martínez-Vicente, Laura, Galán-Dávila, Lucía, García-García, Jorge, Arenas, Joaquín, Muelas, Nuria, Hernández-Laín, Aurelio, Domínguez-González, Cristina, Martín, Miguel A
Published in Journal of clinical medicine (22.12.2021)
Published in Journal of clinical medicine (22.12.2021)
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Dos nuevos casos de síndrome de Leigh por mutación m.13513G>A en el gen MTND5
Jiménez Legido, María, Bernardino Cuesta, Beatriz, López Marín, Laura, Cantarín Extremera, Verónica, Blázquez Encinar, Alberto, Martín Casanueva, Miguel Ángel, González Gutiérrez-Solana, Luis
Published in Revista de neurologiá (2019)
Published in Revista de neurologiá (2019)
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Multiple symmetric lipomatosis as a marker of mitochondrial disease. Case report and review of the literature
de Miguel-Sánchez, Carlos José, Gómez, Gemma Lafuente, Hidalgo, Rafael Leal, Álvarez, Irene Catalina, Encinar, Alberto Blazquez, Blanco, Jose Luis Muñoz, Lotto, Francisco Arias, Rodríguez, Maria Isabel Esteban, Sánchez, Sofía Portela
Published in Neurological sciences (26.07.2024)
Published in Neurological sciences (26.07.2024)
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Two new cases of Leigh syndrome caused by mutation m.13513G> A in the MTND5 gene
Jimenez-Legido, M, Bernardino-Cuesta, B, Lopez-Marin, L, Cantarin-Extremera, V, Blazquez-Encinar, A, Martin-Casanueva, M A, Gutierrez-Solana, L G
Published in Revista de neurologiá (01.04.2019)
Published in Revista de neurologiá (01.04.2019)
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