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

by Lidia Carreño-Gago, Lidia Carreño-Gago, Cora Blázquez-Bermejo, Cora Blázquez-Bermejo, Jordi Díaz-Manera, Jordi Díaz-Manera, Yolanda Cámara, Yolanda Cámara, Eduard Gallardo, Eduard Gallardo, Ramon Martí, Ramon Martí, Javier Torres-Torronteras, Javier Torres-Torronteras, Elena García-Arumí, Elena García-Arumí, Elena García-Arumí
Published 2019-06-01

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

by Lidia Carreño-Gago, Diana Luz Juárez-Flores, Josep Maria Grau, Javier Ramón, Ester Lozano, Ferran Vila-Julià, Ramon Martí, Glòria Garrabou, Elena Garcia-Arumí
Published 2021-08-01

Leigh syndrome associated with TRMU gene mutations

by Júlia Sala-Coromina, Lucía Dougherty-de Miguel, Javier de las Heras, Amaia Lasa-Aranzasti, Elena Garcia-Arumi, Lidia Carreño, Jose Antonio Arranz, Clara Carnicer, María Unceta-Suárez, Angel Sanchez-Montañez, Laura Gort, Frederic Tort, Mireia del Toro
Published 2021-03-01