| DMD mutations in 576 dystrophinopathy families: a step forward in genotype-phenotype correlations J Juan-Mateu, L Gonzalez-Quereda, MJ Rodriguez, M Baena, E Verdura, ... PloS one 10 (8), e0135189, 2015 | 145 | 2015 |
| The impact of proinflammatory cytokines on the β-cell regulatory landscape provides insights into the genetics of type 1 diabetes M Ramos-Rodríguez, H Raurell-Vila, ML Colli, MI Alvelos, ... Nature genetics 51 (11), 1588-1595, 2019 | 120 | 2019 |
| MicroRNAs miR-23a-3p, miR-23b-3p, and miR-149-5p regulate the expression of proapoptotic BH3-only proteins DP5 and PUMA in human pancreatic β-cells FA Grieco, G Sebastiani, J Juan-Mateu, O Villate, L Marroqui, L Ladričre, ... Diabetes 66 (1), 100-112, 2017 | 106 | 2017 |
| An integrated multi-omics approach identifies the landscape of interferon-α-mediated responses of human pancreatic beta cells ML Colli, M Ramos-Rodríguez, ES Nakayasu, MI Alvelos, M Lopes, ... Nature communications 11 (1), 2584, 2020 | 93 | 2020 |
| Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy J Juan-Mateu, MJ Rodríguez, A Nascimento, C Jiménez-Mallebrera, ... Orphanet journal of rare diseases 7, 1-13, 2012 | 60 | 2012 |
| Neuron-enriched RNA-binding proteins regulate pancreatic beta cell function and survival J Juan-Mateu, TH Rech, O Villate, E Lizarraga-Mollinedo, A Wendt, ... Journal of Biological Chemistry 292 (8), 3466-3480, 2017 | 59 | 2017 |
| Mechanisms in endocrinology: alternative splicing: the new frontier in diabetes research J Juan-Mateu, O Villate, DL Eizirik European journal of endocrinology 174 (5), R225-R238, 2016 | 59 | 2016 |
| SRp55 regulates a splicing network that controls human pancreatic β-cell function and survival J Juan-Mateu, MI Alvelos, JV Turatsinze, O Villate, E Lizarraga-Mollinedo, ... Diabetes 67 (3), 423-436, 2018 | 53 | 2018 |
| Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes J Juan-Mateu, L González-Quereda, MJ Rodríguez, E Verdura, K Lázaro, ... PloS one 8 (3), e59916, 2013 | 49 | 2013 |
| The miRNAs miR-211-5p and miR-204-5p modulate ER stress in human beta cells FA Grieco, AA Schiavo, F Brozzi, J Juan-Mateu, M Bugliani, P Marchetti, ... Journal of molecular endocrinology 63 (2), 139-149, 2019 | 37 | 2019 |
| When one becomes many—Alternative splicing in β‐cell function and failure MI Alvelos, J Juan‐Mateu, ML Colli, JV Turatsinze, DL Eizirik Diabetes, obesity and metabolism 20, 77-87, 2018 | 35 | 2018 |
| The RNA-binding profile of the splicing factor SRSF6 in immortalized human pancreatic β-cells MI Alvelos, M Brüggemann, FXR Sutandy, J Juan-Mateu, ML Colli, ... Life Science Alliance 4 (3), 2021 | 14 | 2021 |
| Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle J Juan‐Mateu, C Paradas, M Olive, E Verdura, E Rivas, ... Clinical genetics 82 (6), 574-578, 2012 | 13 | 2012 |
| Recommendations of good practices for the genetic diagnosis of Duchenne and Becker muscular dystrophies J Juan-Mateu, P Gallano, MJ Trujillo-Tiebas Medicina Clinica 139 (7), 307-312, 2012 | 7* | 2012 |
| Pancreatic microexons regulate islet function and glucose homeostasis J Juan-Mateu, S Bajew, M Miret-Cuesta, LP Íńiguez, A Lopez-Pascual, ... Nature Metabolism 5 (2), 219-236, 2023 | 6 | 2023 |
| LMNA mutation in progeroid syndrome in association with strokes L Gonzalez-Quereda, V Delgadillo, J Juan-Mateu, E Verdura, ... European Journal of Medical Genetics 54 (6), e576-e579, 2011 | 6 | 2011 |
| P. 2.14 Isolated cognitive abnormalities associated to DMD mutations J Juan-Mateu, L González-Quereda, MJ Rodriguez, C Jou, A Nascimento, ... Neuromuscular Disorders 23 (9), 753, 2013 | 4 | 2013 |
| Control of pancreatic islet function and glucose homeostasis by a novel microexon program misregulated in type 2 diabetes J Juan-Mateu, S Bajew, M Miret-Cuesta, LP Íńiguez, A López-Pascual, ... bioRxiv, 2022.04. 02.486809, 2022 | 1 | 2022 |
| The impact of pro-inflammatory cytokines on the β-cell regulatory landscape provides new insights into the genetics of type 1 diabetes M Ramos-Rodrıguez, H Raurell-Villa, ML Colli, MI Alvelos, ... | 1 | 2019 |
| When one becomes many-Alternative splicing in beta-cell function and failure (vol 20, pg 77, 2018) M Alvelos, J Juan-Mateu, ML Colli, J Turatsinze, DL Eizirik DIABETES OBESITY & METABOLISM 20 (12), 2926-2926, 2018 | 1 | 2018 |
