Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield

por Gómez-Manjón, Irene, Moreno-Izquierdo, Ana, Mayo, Sonia, Moreno-García, Marta, Delmiro, Aitor, Escribano, David, Fernández-Martínez, F. Javier
Publicado 2018

Plasma LDH: A specific biomarker for lung affectation in COVID-19?

por Serrano-Lorenzo, Pablo, Coya, Olga N., López-Jimenez, Ana, Blázquez, Alberto, Delmiro, Aitor, Lucia, Alejandro, Arenas, Joaquín, Martín, Miguel A.
Publicado 2021

Pathophysiology of Cerebellar Degeneration in Mitochondrial Disorders: Insights from the Harlequin Mouse

por Fernández de la Torre, Miguel, Fiuza-Luces, Carmen, Laine-Menéndez, Sara, Delmiro, Aitor, Arenas, Joaquín, Martín, Miguel Ángel, Lucia, Alejandro, Morán, María
Publicado 2023

A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome

por Rivera, Henry, Martín-Hernández, Elena, Delmiro, Aitor, García-Silva, María Teresa, Quijada-Fraile, Pilar, Muley, Rafael, Arenas, Joaquín, Martín, Miguel A, Martínez-Azorín, Francisco
Publicado 2013

Apoptosis-Inducing Factor Deficiency Induces Tissue-Specific Alterations in Autophagy: Insights from a Preclinical Model of Mitochondrial Disease and Exercise Training Effects

por Laine-Menéndez, Sara, Fernández-de la Torre, Miguel, Fiuza-Luces, Carmen, Delmiro, Aitor, Arenas, Joaquín, Martín, Miguel Ángel, Boya, Patricia, Lucia, Alejandro, Morán, María
Publicado 2022

Preferent Diaphragmatic Involvement in TK2 Deficiency: An Autopsy Case Study

por Laine-Menéndez, Sara, Domínguez-González, Cristina, Blázquez, Alberto, Delmiro, Aitor, García-Consuegra, Inés, Fernández-de la Torre, Miguel, Hernández-Laín, Aurelio, Sayas, Javier, Martín, Miguel Ángel, Morán, María
Publicado 2021

A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis

por Gallego-Bustos, Fernando, Gotea, Valer, Ramos-Amador, José T., Rodríguez-Pena, Rebeca, Gil-Herrera, Juana, Sastre, Ana, Delmiro, Aitor, Rai, Ghadi, Elnitski, Laura, González-Granado, Luis I., Allende, Luis M.
Publicado 2016

Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome

por Guerrero-Molina, María Paz, Morales-Conejo, Montserrat, Delmiro, Aitor, Morán, María, Domínguez-González, Cristina, Arranz-Canales, Elena, Ramos-González, Ana, Arenas, Joaquín, Martín, Miguel A., González de la Aleja, Jesús
Publicado 2022

iTRAQ-based analysis of progerin expression reveals mitochondrial dysfunction, reactive oxygen species accumulation and altered proteostasis

por Mateos, Jesús, Landeira-Abia, Arancha, Fafián-Labora, Juan Antonio, Fernández-Pernas, Pablo, Lesende-Rodríguez, Iván, Fernández-Puente, Patricia, Fernández-Moreno, Mercedes, Delmiro, Aitor, Martín, Miguel A., Blanco, Francisco J., Arufe, María C.
Publicado 2015

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