Distal hereditary motor neuropathy due to a novel YARS1 gene pathogenic variant von Llauradó, Arnau, Gratacòs‐Viñola, Margarida, Rovira‐Moreno, Eulàlia, Codina‐Solà, Marta, Salvadó, Maria, Sanchez‐Tejerina, Daniel, Sotoca, Javier, Raguer, Núria, Garcia‐Arumi, Elena, Juntas‐Morales, Raul

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Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene von Llauradó, Arnau, Rovira‐Moreno, Eulalia, Codina‐Solà, Marta, Martínez‐Saez, Elena, Salvadó, Maria, Sanchez‐Tejerina, Daniel, Sotoca, Javier, López‐Diego, Verónica, Restrepo‐Vera, Juan Luis, Garcia‐Arumi, Elena, Juntas‐Morales, Raul

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Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern von Restrepo-Vera, Juan Luis, Rovira-Moreno, Eulàlia, Ramón, Javier, Codina-Sola, Marta, Llauradó, Arnau, Salvadó, Maria, Sánchez-Tejerina, Daniel, Sotoca, Javier, Martínez-Sáez, Elena, Martí, Ramon, García-Arumí, Elena, Juntas-Morales, Raul

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Quantification of mitochondrial DNA copy number: pre-analytical factors von Andreu, Antonio L, Martinez, Ramiro, Marti, Ramon, García-Arumí, Elena

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Genetic diagnosis of basal ganglia disease in childhood von Baide‐Mairena, Heidy, Marti‐Sánchez, Laura, Marcé‐Grau, Anna, Cazurro‐Gutiérrez, Ana, Sanchez‐Montanez, Angel, Delgado, Ignacio, Moreno‐Galdó, Antonio, Macaya‐Ruiz, Alfons, García‐Arumí, Elena, Pérez‐Dueñas, Belén

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Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene von Fernández-Cancio, Mónica, Antolín, María, Clemente, María, Campos-Martorell, Ariadna, Mogas, Eduard, Baz-Redón, Noelia, Leno-Colorado, Jordi, Comas-Armangué, Gemma, García-Arumí, Elena, Soler-Colomer, Laura, González-Llorens, Núria, Camats-Tarruella, Núria, Yeste, Diego

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Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene von MELIA, Maria J, KUBOTA, Akatsuki, GARCIA-ARUMI, Elena, ANDREU, Antoni L, NAVARRO, Carmen, HIRANO, Michio, MARTI, Ramon, ORTOLANO, Saida, VILCHEZ, Juan J, GAMEZ, Josep, TANJ I, Kurenai, BONILLA, Eduardo, PALENZUELA, Lluís, FERNANDEZ-CADENAS, Israel, PRISTOUPILOVA, Anna

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Cardiomyocyte hypertrophy induced by Endonuclease G deficiency requires reactive oxygen radicals accumulation and is inhibitable by the micropeptide humanin von Blasco, Natividad, Cámara, Yolanda, Núñez, Estefanía, Beà, Aida, Barés, Gisel, Forné, Carles, Ruíz-Meana, Marisol, Girón, Cristina, Barba, Ignasi, García-Arumí, Elena, García-Dorado, David, Vázquez, Jesús, Martí, Ramon, Llovera, Marta, Sanchis, Daniel

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microRNA-mediated differential expression of TRMU, GTPBP3 and MTO1 in cell models of mitochondrial-DNA diseases von Meseguer, Salvador, Boix, Olga, Navarro-González, Carmen, Villarroya, Magda, Boutoual, Rachid, Emperador, Sonia, García-Arumí, Elena, Montoya, Julio, Armengod, M.-Eugenia

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Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions von Carreño-Gago, Lidia, Blázquez-Bermejo, Cora, Díaz-Manera, Jordi, Cámara, Yolanda, Gallardo, Eduard, Martí, Ramon, Torres-Torronteras, Javier, García-Arumí, Elena

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Spectrum disorder of RFC1 expansions/CANVAS: Clinical and electrophysiological characterization of a group of 31 patients von Lainez, Elena, Sánchez-Tejerina, Daniel, Fernández Alvarez, Paula, Gratacòs-Viñola, Margarida, Seoane, José Luis, Santa-Cruz, Daniela Isabel, Verdaguer, Lena, Juntas, Raúl, Llauradó, Arnau, Sotoca, Javier, Salvado, Maria, García Arumi, Elena, Raguer, Núria

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Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient von Cueto-González, Anna M., Fernández-Cancio, Mónica, Fernández-Alvarez, Paula, García-Arumí, Elena, Tizzano, Eduardo F.

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A transcriptomic approach to search for novel phenotypic regulators in McArdle disease von Nogales-Gadea, Gisela, Consuegra-García, Inés, Rubio, Juan C, Arenas, Joaquin, Cuadros, Marc, Camara, Yolanda, Torres-Torronteras, Javier, Fiuza-Luces, Carmen, Lucia, Alejandro, Martín, Miguel A, García-Arumí, Elena, Andreu, Antoni L

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Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8 von Clemente, María, Cobo, Patricia, Antolín, María, Campos, Ariadna, Yeste, Diego, Tomasini, Rosangela, Caimari, María, Masas, Miriam, García-Arumí, Elena, Fernández-Cancio, Mónica, Baz-Redón, Noelia, Camats-Tarruella, Núria

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Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome von Valenzuela, Irene, Codina-Solà, Marta, Vazquez, Elida, Cueto-González, Anna, Leno-Colorado, Jordi, Lasa-Aranzasti, Amaia, Trujillano, Laura, Masotto, Bárbara, Masas, Miriam, Escobar, Mar, García-Arumí, Elena, Tizzano, Eduardo F.

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A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome von Keraite, Ieva, Becker, Philipp, Canevazzi, Davide, Frias-López, Cristina, Dabad, Marc, Tonda-Hernandez, Raúl, Paramonov, Ida, Ingham, Matthew John, Brun-Heath, Isabelle, Leno, Jordi, Abulí, Anna, Garcia-Arumí, Elena, Heath, Simon Charles, Gut, Marta, Gut, Ivo Glynne

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Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation von Baz-Redón, Noelia, Antolín, María, Clemente, María, Campos, Ariadna, Mogas, Eduard, Fernández-Cancio, Mónica, Zafon, Elisenda, García-Arumí, Elena, Soler, Laura, González-Llorens, Núria, Aguilar-Riera, Cristina, Camats-Tarruella, Núria, Yeste, Diego

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The Eutherian Armcx genes regulate mitochondrial trafficking in neurons and interact with Miro and Trak2 von López-Doménech, Guillermo, Serrat, Román, Mirra, Serena, D'Aniello, Salvatore, Somorjai, Ildiko, Abad, Alba, Vitureira, Nathalia, García-Arumí, Elena, Alonso, María Teresa, Rodriguez-Prados, Macarena, Burgaya, Ferran, Andreu, Antoni L., García-Sancho, Javier, Trullas, Ramón, Garcia-Fernàndez, Jordi, Soriano, Eduardo

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An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants von Blasco-Pérez, Laura, Iranzo-Nuez, Leticia, López-Ortega, Ricard, Martínez-Cruz, Desirée, Camprodon-Gómez, María, Tenés, Anna, Antolín, María, Tizzano, Eduardo F, García-Arumí, Elena

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Different mitochondrial genetic defects exhibit the same protein signature of metabolism in skeletal muscle of PEO and MELAS patients: A role for oxidative stress von Santacatterina, Fulvio, Torresano, Laura, Núñez-Salgado, Alfonso, Esparza-Molto, Pau B., Olive, Montse, Gallardo, Eduard, García-Arumi, Elena, Blazquez, Alberto, González-Quintana, Adrián, Martín, Miguel A., Cuezva, José M.

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