Beyond cervical lipomas: myoclonus, gait disorder and multisystem involvement leading to mitochondrial disease

ανά López-Blanco, Roberto, Rojo-Sebastián, Ana, Torregrosa-Martínez, Maria Henedina, Blazquez, Alberto
Τόπος έκδοσης BMJ Case Rep (2017)

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

ανά Serrano-Lorenzo, Pablo, Coya, Olga N., López-Jimenez, Ana, Blázquez, Alberto, Delmiro, Aitor, Lucia, Alejandro, Arenas, Joaquín, Martín, Miguel A.
Τόπος έκδοσης Pract Lab Med (2021)

A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population

ανά Garcia-Solaesa, Virginia, Serrano-Lorenzo, Pablo, Ramos-Arroyo, Maria Antonia, Blázquez, Alberto, Pagola-Lorz, Inmaculada, Artigas-López, Mercè, Arenas, Joaquín, Martín, Miguel A., Jericó-Pascual, Ivonne
Τόπος έκδοσης Genes (Basel) (2019)

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

ανά 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.
Τόπος έκδοσης Genes (Basel) (2020)

Preferent Diaphragmatic Involvement in TK2 Deficiency: An Autopsy Case Study

ανά 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
Τόπος έκδοσης Int J Mol Sci (2021)

Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity

ανά Cruz-Bermúdez, Alberto, Vicente-Blanco, Ramiro J., Hernández-Sierra, Rosana, Montero, Mayte, Alvarez, Javier, González Manrique, Mar, Blázquez, Alberto, Martín, Miguel Angel, Ayuso, Carmen, Garesse, Rafael, Fernández-Moreno, Miguel A.
Τόπος έκδοσης PLoS One (2016)

Impact of the Mitochondrial Genetic Background in Complex III Deficiency

ανά Gil Borlado, Mari Carmen, Moreno Lastres, David, Gonzalez Hoyuela, Maritza, Moran, Maria, Blazquez, Alberto, Pello, Rosa, Marin Buera, Lorena, Gabaldon, Toni, Garcia Peñas, Juan Jose, Martín, Miguel A., Arenas, Joaquin, Ugalde, Cristina
Έκδοση 2010

Mitochondrial respiration controls lysosomal function during inflammatory T cell responses

ανά Baixauli, Francesc, Acín-Pérez, Rebeca, Villarroya-Beltrí, Carolina, Mazzeo, Carla, Nuñez-Andrade, Norman, Gabandé-Rodriguez, Enrique, Dolores Ledesma, Maria, Blázquez, Alberto, Martin, Miguel Angel, Falcón-Pérez, Juan Manuel, Redondo, Juan Miguel, Enríquez, Jose Antonio, Mittelbrunn, Maria
Τόπος έκδοσης Cell Metab (2015)