| The human mitochondrial transcription termination factor (mTERF) is a multizipper protein but binds to DNA as a monomer, with evidence pointing to intramolecular leucine zipper … P Fernandez‐Silva, F Martinez‐Azorin, V Micol, G Attardi The EMBO journal, 1997 | 227 | 1997 |
| Mutations in the neuronal vesicular SNARE VAMP2 affect synaptic membrane fusion and impair human neurodevelopment V Salpietro, NT Malintan, I Llano-Rivas, CG Spaeth, S Efthymiou, ... The American Journal of Human Genetics 104 (4), 721-730, 2019 | 89 | 2019 |
| Functional characterization of ribosomal P1/P2 proteins in human cells F Martinez-Azorin, M Remacha, JPG Ballesta Biochemical Journal 413 (3), 527-534, 2008 | 49 | 2008 |
| 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 | 48 | 2013 |
| Phosphorylation of rat mitochondrial transcription termination factor (mTERF) is required for transcription termination but not for binding to DNA A Prieto‐Martín, J Montoya, F Martínez‐Azorín Nucleic acids research 32 (7), 2059-2068, 2004 | 44 | 2004 |
| Effect of diethylstilbestrol and related compounds on the Ca (2+)-transporting ATPase of sarcoplasmic reticulum. F Martinez-Azorin, JA Teruel, F Fernandez-Belda, JC Gomez-Fernandez Journal of Biological Chemistry 267 (17), 11923-11929, 1992 | 44 | 1992 |
| The P 1/P 2 proteins of the human ribosomal stalk are required for ribosome binding and depurination by ricin in human cells KL May, XP Li, F Martínez‐Azorín, JPG Ballesta, P Grela, M Tchórzewski, ... The FEBS journal 279 (20), 3925-3936, 2012 | 42 | 2012 |
| New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy E Martín-Hernández, ME Rodríguez-García, A Camacho, ... Neurogenetics 17, 259-263, 2016 | 40 | 2016 |
| Over‐expression of the catalytic core of mitochondrial DNA (mtDNA) polymerase in the nervous system of Drosophila melanogaster reduces median life span by … F Martínez‐Azorín, M Calleja, R Hernández‐Sierra, CL Farr, LS Kaguni, ... Journal of neurochemistry 105 (1), 165-176, 2008 | 34 | 2008 |
| Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation E Martín-Hernández, ME Rodríguez-García, CA Chen, FJ Cotrina-Vinagre, ... Journal of Human Genetics 63 (4), 525-528, 2018 | 31 | 2018 |
| 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 18 (6), 796-800, 2014 | 29 | 2014 |
| A study on the human mitochondrial RNA polymerase activity points to existence of a transcription factor B-like protein A Prieto-Martı́n, J Montoya, F Martı́nez-Azorı́n FEBS letters 503 (1), 51-55, 2001 | 25 | 2001 |
| Internal translation initiation on the foot-and-mouth disease virus IRES is affected by ribosomal stalk conformation F Martínez-Azorín, M Remacha, E Martínez-Salas, JPG Ballesta FEBS letters 582 (20), 3029-3032, 2008 | 21 | 2008 |
| Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis M Ganapathi, L Argyriou, F Martínez-Azorín, S Morlot, G Yigit, TM Lee, ... Human genetics 139 (11), 1443-1454, 2020 | 20 | 2020 |
| Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene M Castro-Gago, D Dacruz-Alvarez, E Pintos-Martínez, A Beiras-Iglesias, ... Brain and Development 38 (1), 167-172, 2016 | 20 | 2016 |
| Cyclopiazonic acid reduces the coupling factor of the Ca2+-ATPase acting on Ca2+ binding F Martı́nez-Azorı́n FEBS letters 576 (1-2), 73-76, 2004 | 20 | 2004 |
| MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase O Lopes Abath Neto, L Medne, S Donkervoort, ME Rodríguez-García, ... Brain 144 (9), 2722-2731, 2021 | 15 | 2021 |
| A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24 ME Rodríguez‐García, FJ Cotrina‐Vinagre, J Cruz‐Rojo, ... American Journal of Medical Genetics Part A 176 (11), 2479-2486, 2018 | 15 | 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 | 15 | 2017 |
Miguel A. MartinHospital Universitario 12 de Octubre. Instituto de Investigación i+12在 h12o.es 的电子邮件经过验证
