| A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss E Servián‐Morilla, H Takeuchi, TV Lee, J Clarimon, F Mavillard, ... EMBO molecular medicine 8 (11), 1289-1309, 2016 | 96 | 2016 |
| Deoxynucleoside therapy for thymidine kinase 2–deficient myopathy C Domínguez‐González, M Madruga‐Garrido, F Mavillard, C Garone, ... Annals of neurology 86 (2), 293-303, 2019 | 91 | 2019 |
| PKA‐Mediated Golgi Remodeling During cAMP Signal Transmission F Mavillard, J Hidalgo, D Megias, KL Levitsky, A Velasco Traffic 11 (1), 90-109, 2010 | 41 | 2010 |
| Loss of postnatal quiescence of neural stem cells through mTOR activation upon genetic removal of cysteine string protein-α JL Nieto-González, L Gómez-Sánchez, F Mavillard, P Linares-Clemente, ... Proceedings of the National Academy of Sciences 116 (16), 8000-8009, 2019 | 32 | 2019 |
| Altered myogenesis and premature senescence underlie human TRIM32-related myopathy E Servián-Morilla, M Cabrera-Serrano, E Rivas-Infante, A Carvajal, ... Acta neuropathologica communications 7, 1-16, 2019 | 31 | 2019 |
| Heterozygous CAPN3 missense variants causing autosomal‐dominant calpainopathy in seven unrelated families L González‐Mera, G Ravenscroft, M Cabrera‐Serrano, N Ermolova, ... Neuropathology and Applied Neurobiology 47 (2), 283-296, 2021 | 30 | 2021 |
| Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy C Dominguez-Gonzalez, C Badosa, M Madruga-Garrido, I Martí, ... Scientific reports 10 (1), 10111, 2020 | 25 | 2020 |
| A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine M Cabrera-Serrano, F Mavillard, V Biancalana, E Rivas, B Morar, ... Neurology 91 (4), e339-e348, 2018 | 21 | 2018 |
| Proteolytic processing of neurexins by presenilins sustains synaptic vesicle release E Servián-Morilla, E Robles-Lanuza, AC Sánchez-Hidalgo, ... Journal of Neuroscience 38 (4), 901-917, 2018 | 13 | 2018 |
| A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. EMBO Mol Med 8 (11): 1289–1309 E Servián-Morilla, H Takeuchi, TV Lee, J Clarimon, F Mavillard, ... | 5 | 2016 |
| A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. EMBO Mol Med. 2016; 8 (11): 1289–309 E Servian-Morilla, H Takeuchi, TV Lee, J Clarimon, F Mavillard, ... Epub 2016/11/04. doi: 10.15252/emmm. 201505815, 0 | 5 | |
| Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy F Mavillard, E Servian-Morilla, L Dofash, I Rojas-Marcos, C Folland, ... Brain 146 (12), 5235-5248, 2023 | 1 | 2023 |
| Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort A de Bruyn, F Montagnese, S Holm-Yildiz, N Scharff Poulsen, T Stojkovic, ... Brain 146 (9), 3800-3815, 2023 | 1 | 2023 |
| The Iberian Roma genetic variant server; population structure, susceptibility to disease and adaptive traits. F Mavillard, J Perez-Florido, F Ortuno, A Valladares, ML Alvarez-Villegas, ... medRxiv, 2023.08. 25.23294490, 2023 | 1 | 2023 |
| Neuronal lipofuscinosis caused by Kufs disease/CLN4 DNAJC5 mutations but not by a CSPα/DNAJC5 deficiency S Lopez-Begines, A Lavado-Roldan, C Mesa-Cruz, F Mavillard, N Borjini, ... bioRxiv, 2023.05. 10.540177, 2023 | 1 | 2023 |
| Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy F Mavillard, E Servián‐Morilla, E Rivas, C Paradas, M Cabrera‐Serrano Clinical Genetics 100 (1), 106-110, 2021 | 1 | 2021 |
| NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay F Mavillard, M Madruga‐Garrido, E Rivas, E Servián‐Morilla, ... Annals of Clinical and Translational Neurology 6 (11), 2328-2333, 2019 | 1 | 2019 |
| IRPVS, the Iberian Roma genetic database. F Mavillard, J Perez-Florido, FM Ortuño, A Valladares, ... Journal of Genetics and Genomics= Yi Chuan xue bao, S1673-8527 (24) 00059, 2024 | | 2024 |
| Proteolytic Processing of Neurexins by Presenilins Sustains Synaptic Vesicle Release. A Martinez-Mir, E Servián-Morilla, E Robles-Lanuza, ... Journal of Neuroscience 38 (4), 2018 | | 2018 |
| MOUSE GENETICS TO STUDY NEURONAL DYSFUNCTIONS INDUCED BY CYSTEINE STRING PROTEIN-ALPHA (CSP-ALPHA) MUTANT FORMS A Lavado-Roldan, F Mavillard, R Fernandez-Chacon ACTA PHYSIOLOGICA 212, 38-38, 2014 | | 2014 |
