| COX7A2L is a mitochondrial complex III binding protein that stabilizes the III2+ IV supercomplex without affecting respirasome formation R Pérez-Pérez, T Lobo-Jarne, D Milenkovic, A Mourier, A Bratic, ... Cell reports 16 (9), 2387-2398, 2016 | 114 | 2016 |
| Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders D Yubero, R Montero, MA Martín, J Montoya, A Ribes, M Grazina, ... Mitochondrion 30, 51-58, 2016 | 79 | 2016 |
| A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome H Rivera, E Martín-Hernández, A Delmiro, MT García-Silva, ... BMC nephrology 14, 1-6, 2013 | 46 | 2013 |
| iTRAQ-based analysis of progerin expression reveals mitochondrial dysfunction, reactive oxygen species accumulation and altered proteostasis J Mateos, A Landeira-Abia, JA Fafián-Labora, P Fernández-Pernas, ... Stem cell research & therapy 6, 1-17, 2015 | 42 | 2015 |
| Bulk autophagy, but not mitophagy, is increased in cellular model of mitochondrial disease M Morán, A Delmiro, A Blázquez, C Ugalde, J Arenas, MA Martín Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1842 (7 …, 2014 | 36 | 2014 |
| Exercise training can induce cardiac autophagy at end-stage chronic conditions: insights from a graft-versus-host-disease mouse model C Fiuza-Luces, A Delmiro, L Soares-Miranda, Á González-Murillo, ... Brain, behavior, and immunity 39, 56-60, 2014 | 34 | 2014 |
| Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities S Peralta, A González-Quintana, M Ybarra, A Delmiro, R Pérez-Pérez, ... Molecular genetics and metabolism 128 (4), 452-462, 2019 | 33 | 2019 |
| Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy Y Cámara, L Carreño-Gago, MA Martín, MJ Melià, A Blázquez, A Delmiro, ... Neurology 84 (22), 2286-2288, 2015 | 31 | 2015 |
| Whole‐Exome Sequencing Identifies a Variant of the Mitochondrial MT‐ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox … A Delmiro, H Rivera, MT García‐Silva, I García‐Consuegra, ... Human mutation 34 (12), 1623-1627, 2013 | 30 | 2013 |
| Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion M Castro-Gago, D Dacruz-Alvarez, E Pintos-Martínez, A Beiras-Iglesias, ... European Journal of Paediatric Neurology, 2014 | 29 | 2014 |
| Exercise Benefits in Chronic Graft versus Host Disease: A Murine Model Study. C Fiuza-Luces, L Soares-Miranda, A González-Murillo, JM Palacio, ... Medicine and science in sports and exercise 45 (9), 1703-1711, 2013 | 29 | 2013 |
| Plasma LDH: A specific biomarker for lung affectation in COVID-19? P Serrano-Lorenzo, ON Coya, A López-Jimenez, A Blázquez, A Delmiro, ... Practical laboratory medicine 25, e00226, 2021 | 22 | 2021 |
| A case of IL-7R deficiency caused by a novel synonymous mutation and implications for mutation screening in SCID diagnosis F Gallego-Bustos, V Gotea, JT Ramos-Amador, R Rodríguez-Pena, ... Frontiers in immunology 7, 443, 2016 | 16 | 2016 |
| Health benefits of an innovative exercise program for mitochondrial disorders C Fiuza-Luces, J Diez-Bermejo, M Fernandez-De La Torre, ... Med Sci Sports Exerc 50 (6), 1142-1151, 2018 | 14 | 2018 |
| The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome MÁ Martín, MT García‐Silva, G Barcia, A Delmiro, ME Rodríguez‐García, ... Clinical Genetics 91 (1), 46-53, 2017 | 14 | 2017 |
| High‐dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke … MP Guerrero‐Molina, M Morales‐Conejo, A Delmiro, M Morán, ... European Journal of Neurology 30 (2), 538-547, 2023 | 11 | 2023 |
| Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome MP Guerrero-Molina, M Morales-Conejo, A Delmiro, M Morán, ... Journal of Neurology 269 (6), 3238-3248, 2022 | 10 | 2022 |
| CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative J Luque, I Mendes, B Gómez, B Morte, M López de Heredia, E Herreras, ... Clinical Genetics 101 (5-6), 481-493, 2022 | 9 | 2022 |
| A novel RRM2B gene variant associated with Telbivudine-induced mitochondrial myopathy A Hernández-Laín, AM Guerrero, C Domínguez-González, ... Journal of the Neurological Sciences 358 (1), 481-483, 2015 | 9 | 2015 |
| Multicentric standardization of protocols for the diagnosis of human mitochondrial respiratory chain defects N Bujan, C Morén, FJ García-García, A Blázquez, C Carnicer, AB Cortés, ... Antioxidants 11 (4), 741, 2022 | 6 | 2022 |
Miguel A MartinHospital Universitario 12 de Octubre. Instituto de Investigación i+12Verified email at h12o.es
