| Multiple pathways coordinate assembly of human mitochondrial complex IV and stabilization of respiratory supercomplexes T Lobo‐Jarne, R Pérez‐Pérez, F Fontanesi, A Timón‐Gómez, I Wittig, ... The EMBO journal 39 (14), e103912, 2020 | 70 | 2020 |
| Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update A Santalla, G Nogales-Gadea, AB Encinar, I Vieitez, A González-Quintana, ... BMC genomics 18, 39-47, 2017 | 70 | 2017 |
| Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia C Rodríguez-López, LM García-Cárdaba, A Blázquez, P Serrano-Lorenzo, ... Journal of Medical Genetics 57 (9), 643-646, 2020 | 28 | 2020 |
| 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 novel missense variant associated with a splicing defect in a myopathic form of PGK1 deficiency in the Spanish population V Garcia-Solaesa, P Serrano-Lorenzo, MA Ramos-Arroyo, A Blázquez, ... Genes 10 (10), 785, 2019 | 13 | 2019 |
| Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report A González-Quintana, I García-Consuegra, A Belanger-Quintana, ... Genes 11 (8), 855, 2020 | 12 | 2020 |
| The Mitochondrial Isoform of FASTK Modulates Nonopsonic Phagocytosis of Bacteria by Macrophages via Regulation of Respiratory Complex I A García Del Río, A Delmiro, MA Martín, R Cantalapiedra, R Carretero, ... The Journal of Immunology 201 (10), 2977-2985, 2018 | 6 | 2018 |
| Clinical, histological, and genetic features of 25 patients with autosomal dominant progressive external ophthalmoplegia (Ad-PEO)/PEO-plus due to TWNK mutations L Bermejo-Guerrero, CP de Fuenmayor-Fernández de la Hoz, ... Journal of Clinical Medicine 11 (1), 22, 2021 | 4 | 2021 |
| The mitochondrial succinate dehydrogenase complex controls the STAT3-IL-10 pathway in inflammatory macrophages D Gobelli, P Serrano-Lorenzo, MJ Esteban-Amo, J Serna, ... Iscience 26 (8), 2023 | 3 | 2023 |
| A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene G Amate-García, MJ Ballesta-Martínez, P Serrano-Lorenzo, ... International Journal of Molecular Sciences 24 (2), 1743, 2023 | 3 | 2023 |
| Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI) P Serrano-Lorenzo, M Rabasa, J Esteban, I Hidalgo Mayoral, ... Genes 13 (10), 1835, 2022 | 3 | 2022 |
| Serum GDF-15 levels accurately differentiate patients with primary mitochondrial myopathy, manifesting with exercise intolerance and fatigue, from patients with chronic fatigue … L Bermejo-Guerrero, CP de Fuenmayor-Fernández de la Hoz, ... Journal of Clinical Medicine 12 (6), 2435, 2023 | 2 | 2023 |
| A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy H Argente‐Escrig, JJ Vílchez, M Frasquet, N Muelas, I Azorín, R Vílchez, ... Neuropathology and Applied Neurobiology 48 (5), e12817, 2022 | 2 | 2022 |
| Development of a novel in vitro model to study the modulatory role of the respiratory complex I in macrophage effector functions P Serrano-Lorenzo, D Gobelli, R Garrido-Moraga, MJ Esteban-Amo, ... Plos one 18 (9), e0291442, 2023 | 1 | 2023 |
| Distinct myopathic phenotypes associated with two novel mutations at the anticodon stem pair 28T: 42A of the MT-TN gene of the mtDNA A Blázquez, C Domínguez-González, A Delmiro, L Rufián, ... Neuromuscular Disorders 26, S176-S177, 2016 | 1 | 2016 |
| Remarkable clinical improvement with oral nucleoside treatment in a patient with adult-onset TK2 deficiency: A case report L Bermejo-Guerrero, A Hernández-Voth, P Serrano-Lorenzo, A Blázquez, ... Mitochondrion, 101879, 2024 | | 2024 |
| Clinical and Genetic Analysis of Patients With TK2 Deficiency F Ceballos, P Serrano-Lorenzo, L Bermejo-Guerrero, A Blázquez, ... Neurology: Genetics 10 (2), e200138, 2024 | | 2024 |
| Role of Ndufs4 in the proliferation of macrophages [Dataset] P Serrano-Lorenzo, D Gobelli, R Garrido-Moraga, MJ Esteban-Amo, ... Figshare, 2023 | | 2023 |
| Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis I García-Consuegra, S Asensio-Peña, R Garrido-Moraga, T Pinós, ... International Journal of Molecular Sciences 23 (9), 4650, 2022 | | 2022 |
| Caracterización genética y funcional de nuevas mutaciones en los genes MT-ATP6 y MT-ATP8 P Serrano Lorenzo | | 2021 |
Miguel A MartinHospital Universitario 12 de Octubre. Instituto de Investigación i+12Verified email at h12o.es
