Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report

por González-Quintana, Adrián, García-Consuegra, Inés, Belanger-Quintana, Amaya, Serrano-Lorenzo, Pablo, Lucia, Alejandro, Blázquez, Alberto, Docampo, Jorge, Ugalde, Cristina, Morán, María, Arenas, Joaquín, Martín, Miguel A.
Publicado 2020

Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma

por González-Quintana, Adrián, Garrido-Moraga, Rocío, Palencia-Pérez, Sara I., Hernández-Martín, Ángela, Sánchez-Munárriz, Jon, Lezana-Rosales, José M., Quesada-Espinosa, Juan F., Martín, Miguel A., Arteche-López, Ana
Publicado 2023

A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene

por Amate-García, Guillermo, Ballesta-Martínez, María Juliana, Serrano-Lorenzo, Pablo, Garrido-Moraga, Rocío, González-Quintana, Adrián, Blázquez, Alberto, Rubio, Juan C., García-Consuegra, Inés, Arenas, Joaquín, Ugalde, Cristina, Morán, María, Guillén-Navarro, Encarnación, Martín, Miguel A.
Publicado 2023

Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update

por 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
Publicado 2017