Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient

por Cueto-González, Anna M., Fernández-Cancio, Mónica, Fernández-Alvarez, Paula, García-Arumí, Elena, Tizzano, Eduardo F.
Publicado 2020

Thymidine Kinase 2 Deficiency-Induced Mitochondrial DNA Depletion Causes Abnormal Development of Adipose Tissues and Adipokine Levels in Mice

por Villarroya, Joan, Dorado, Beatriz, Vilà, Maya R., Garcia-Arumí, Elena, Domingo, Pere, Giralt, Marta, Hirano, Michio, Villarroya, Francesc
Publicado 2011

microRNA-mediated differential expression of TRMU, GTPBP3 and MTO1 in cell models of mitochondrial-DNA diseases

por Meseguer, Salvador, Boix, Olga, Navarro-González, Carmen, Villarroya, Magda, Boutoual, Rachid, Emperador, Sonia, García-Arumí, Elena, Montoya, Julio, Armengod, M.-Eugenia
Publicado 2017

Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions

por Carreño-Gago, Lidia, Blázquez-Bermejo, Cora, Díaz-Manera, Jordi, Cámara, Yolanda, Gallardo, Eduard, Martí, Ramon, Torres-Torronteras, Javier, García-Arumí, Elena
Publicado 2019

Therapy Prospects for Mitochondrial DNA Maintenance Disorders

por Ramón, Javier, Vila-Julià, Ferran, Molina-Granada, David, Molina-Berenguer, Miguel, Melià, Maria Jesús, García-Arumí, Elena, Torres-Torronteras, Javier, Cámara, Yolanda, Martí, Ramon
Publicado 2021

Two Novel Variants in YARS2 Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency

por Carreño-Gago, Lidia, Juárez-Flores, Diana Luz, Grau, Josep Maria, Ramón, Javier, Lozano, Ester, Vila-Julià, Ferran, Martí, Ramon, Garrabou, Glòria, Garcia-Arumí, Elena
Publicado 2021

Impaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy (Barraquer-Simons syndrome): a case report

por Guallar, Jordi P, Rojas-Garcia, Ricardo, Garcia-Arumi, Elena, Domingo, Joan C, Gallardo, Eduardo, Andreu, Antoni L, Domingo, Pere, Illa, Isabel, Giralt, Marta, Villarroya, Francesc
Publicado 2008

An Atypical Presentation of Upper Motor Neuron Predominant Juvenile Amyotrophic Lateral Sclerosis Associated with TARDBP Gene: A Case Report and Review of the Literature

por Sánchez-Tejerina, Daniel, Restrepo-Vera, Juan Luis, Rovira-Moreno, Eulalia, Codina-Sola, Marta, Llauradó, Arnau, Sotoca, Javier, Salvado, Maria, Raguer, Núria, García-Arumí, Elena, Juntas-Morales, Raúl
Publicado 2022

A Transcriptomic Approach to Search for Novel Phenotypic Regulators in McArdle Disease

por 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.
Publicado 2012

Cardiomyocyte hypertrophy induced by Endonuclease G deficiency requires reactive oxygen radicals accumulation and is inhibitable by the micropeptide humanin

por 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
Publicado 2018

Leigh syndrome associated with TRMU gene mutations

por Sala-Coromina, Júlia, Miguel, Lucía Dougherty-de, de las Heras, Javier, Lasa-Aranzasti, Amaia, Garcia-Arumi, Elena, Carreño, Lidia, Arranz, Jose Antonio, Carnicer, Clara, Unceta-Suárez, María, Sanchez-Montañez, Angel, Gort, Laura, Tort, Frederic, del Toro, Mireia
Publicado 2020

A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome

por 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
Publicado 2022

Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects

por Bujan, Nuria, Morén, Constanza, García-García, Francesc J., Blázquez, Alberto, Carnicer, Clara, Cortés, Ana Belén, González, Cristina, López-Gallardo, Ester, Lozano, Ester, Moliner, Sonia, Gort, Laura, Tobías, Ester, Delmiro, Aitor, Martin, Miguel Ángel, Fernández-Moreno, Miguel Ángel, Ruiz-Pesini, Eduardo, Garcia-Arumí, Elena, Rodríguez-Aguilera, Juan Carlos, Garrabou, Glòria
Publicado 2022

Mitochondrial DAMPs Induce Endotoxin Tolerance in Human Monocytes: An Observation in Patients with Myocardial Infarction

por Fernández-Ruiz, Irene, Arnalich, Francisco, Cubillos-Zapata, Carolina, Hernández-Jiménez, Enrique, Moreno-González, Raúl, Toledano, Víctor, Fernández-Velasco, María, Vallejo-Cremades, Maria T., Esteban-Burgos, Laura, de Diego, Rebeca Pérez, Llamas-Matias, Miguel A., García-Arumi, Elena, Martí, Ramón, Boscá, Lisardo, Andreu, Antoni L., López-Sendón, José Luis, López-Collazo, Eduardo
Publicado 2014

Late-onset thymidine kinase 2 deficiency: a review of 18 cases

por 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
Publicado 2019

Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function

por McDermott-Roe, Chris, Ye, Junmei, Ahmed, Rizwan, Sun, Xi-Ming, Serafín, Anna, Ware, James, Bottolo, Leonardo, Muckett, Phil, Cañas, Xavier, Zhang, Jisheng, Rowe, Glenn C., Buchan, Rachel, Lu, Han, Braithwaite, Adam, Mancini, Massimiliano, Hauton, David, Martí, Ramon, García-Arumí, Elena, Hubner, Norbert, Jacob, Howard, Serikawa, Tadao, Zidek, Vaclav, Papousek, Frantisek, Kolar, Frantisek, Cardona, Maria, Ruiz-Meana, Marisol, García-Dorado, David, Comella, Joan X, Felkin, Leanne E, Barton, Paul JR, Arany, Zoltan, Pravenec, Michal, Petretto, Enrico, Sanchis, Daniel, Cook, Stuart A.
Publicado 2011