| Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene L Alías, S Bernal, P Fuentes-Prior, MJ Barceló, E Also, ... Human genetics 125, 29-39, 2009 | 198 | 2009 |
| The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation R Martínez-Hernández, C Soler-Botija, E Also, L Alias, L Caselles, I Gich, ... Journal of Neuropathology & Experimental Neurology 68 (5), 474-481, 2009 | 130 | 2009 |
| Synaptic defects in type I spinal muscular atrophy in human development R Martínez‐Hernández, S Bernal, E Also‐Rallo, L Alías, MJ Barceló, ... The Journal of pathology 229 (1), 49-61, 2013 | 113 | 2013 |
| The c. 859G> C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor S Bernal, L Alías, MJ Barceló, E Also-Rallo, R Martínez-Hernández, ... Journal of medical genetics 47 (9), 640-642, 2010 | 96 | 2010 |
| Pathogenic Th17 and Th22 cells are increased in patients with autoimmune thyroid disorders M Vitales-Noyola, AM Ramos-Levi, R Martínez-Hernández, ... Endocrine 57, 409-417, 2017 | 76 | 2017 |
| Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings S Bernal, E Also-Rallo, R Martínez-Hernández, L Alías, ... Neuromuscular Disorders 21 (6), 413-419, 2011 | 76 | 2011 |
| A MicroRNA signature for evaluation of risk and severity of autoimmune thyroid diseases R Martínez-Hernández, M Sampedro-Núñez, A Serrano-Somavilla, ... The Journal of Clinical Endocrinology & Metabolism 103 (3), 1139-1150, 2018 | 52 | 2018 |
| Analysis of expression of the PD-1/PD-L1 immune checkpoint system and its prognostic impact in gastroenteropancreatic neuroendocrine tumors M Sampedro-Núñez, A Serrano-Somavilla, M Adrados, ... Scientific reports 8 (1), 17812, 2018 | 48 | 2018 |
| Abnormalities in early markers of muscle involvement support a delay in myogenesis in spinal muscular atrophy R Martínez-Hernández, S Bernal, L Alias, EF Tizzano Journal of Neuropathology & Experimental Neurology 73 (6), 559-567, 2014 | 47 | 2014 |
| Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene L Alías, MJ Barceló, S Bernal, R Martínez‐Hernández, E Also‐Rallo, ... Clinical genetics 85 (5), 470-475, 2014 | 44 | 2014 |
| Integrated miRNA and mRNA expression profiling identifies novel targets and pathological mechanisms in autoimmune thyroid diseases R Martínez-Hernández, A Serrano-Somavilla, A Ramos-Leví, ... EBioMedicine 50, 329-342, 2019 | 42 | 2019 |
| Circulating microvesicles regulate Treg and Th17 differentiation in human autoimmune thyroid disorders A Rodríguez-Muñoz, R Martínez-Hernández, AM Ramos-Levi, ... The Journal of Clinical Endocrinology & Metabolism 100 (12), E1531-E1539, 2015 | 40 | 2015 |
| Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter-and intra-patient variability E Also-Rallo, L Alías, R Martínez-Hernández, L Caselles, MJ Barceló, ... European Journal of Human Genetics 19 (10), 1059-1065, 2011 | 38 | 2011 |
| Patients with autoimmune thyroiditis show diminished levels and defective suppressive function of Tr1 regulatory lymphocytes M Vitales-Noyola, A Serrano-Somavilla, R Martínez-Hernández, ... The Journal of Clinical Endocrinology & Metabolism 103 (9), 3359-3367, 2018 | 36 | 2018 |
| Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons MG Boza-Morán, R Martínez-Hernández, S Bernal, K Wanisch, ... Scientific Reports 5 (1), 11696, 2015 | 36 | 2015 |
| Accuracy of Marker Analysis, Quantitative Real-Time Polymerase Chain Reaction, and Multiple Ligation-Dependent Probe Amplification to Determine SMN2 Copy … L Alías, S Bernal, MJ Barceló, E Also-Rallo, R Martínez-Hernández, ... Genetic Testing and Molecular Biomarkers 15 (9), 587-594, 2011 | 35 | 2011 |
| Ultrasound evaluation of fetal movements in pregnancies at risk for severe spinal muscular atrophy J Parra, R Martínez-Hernández, E Also-Rallo, L Alias, MJ Barceló, ... Neuromuscular Disorders 21 (2), 97-101, 2011 | 23 | 2011 |
| Utility of circulating serum miRNA profiles to evaluate the potential risk and severity of immune-mediated inflammatory disorders R Martínez-Hernández, H de la Fuente, A Lamana, M Sampedro-Núñez, ... Journal of Autoimmunity 111, 102472, 2020 | 19 | 2020 |
| Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: possible relevance of the SMN2 copy number J Parra, L Alias, E Also-Rallo, R Martínez-Hernández, R Senosiain, ... The Journal of Maternal-Fetal & Neonatal Medicine 25 (8), 1246-1249, 2012 | 16 | 2012 |
| LAT-1 and GLUT-1 carrier expression and its prognostic value in gastroenteropancreatic neuroendocrine tumors M Sampedro-Núñez, A Bouthelier, A Serrano-Somavilla, ... Cancers 12 (10), 2968, 2020 | 12 | 2020 |
