| 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 |
| Presenilin/γ-secretase regulates neurexin processing at synapses CA Saura, E Servián-Morilla, FG Scholl PloS one 6 (4), e19430, 2011 | 78 | 2011 |
| POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern E Servián-Morilla, M Cabrera-Serrano, K Johnson, A Pandey, A Ito, ... Acta neuropathologica 139, 565-582, 2020 | 34 | 2020 |
| 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 |
| Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD M Garibaldi, F Fattori, CA Bortolotti, G Brochier, C Labasse, M Verardo, ... Acta neuropathologica communications 6, 1-7, 2018 | 17 | 2018 |
| A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain P Carbonell-Corvillo, E Tristán-Clavijo, M Cabrera-Serrano, ... Neuromuscular Disorders 28 (10), 828-836, 2018 | 13 | 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 |
| Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 … J Wu, SD Hunt, N Matthias, E Servián-Morilla, J Lo, H Jafar-Nejad, ... Stem cell research 24, 102-105, 2017 | 13 | 2017 |
| A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism LNH Dofash, GV Monahan, E Servián-Morilla, E Rivas, F Faiz, P Sullivan, ... Human molecular genetics 32 (7), 1127-1136, 2023 | 5 | 2023 |
| 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 | |
| Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis C Domínguez-González, R Fernández-Torrón, U Moore, ... Journal of Neurology 269 (7), 3550-3562, 2022 | 4 | 2022 |
| CONGENITAL MYOPATHIES–NEMALINE MYOPATHIES: EP. 34 3′ UTR variant in KLHL40 causes nemaline myopathy L Dofash, F Faiz, E Servian-Morilla, E Rivas, P Sullivan, E Oates, ... Neuromuscular Disorders 31, S60, 2021 | 2 | 2021 |
| 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 |
| 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 |
| The phenotype of POGLUT1 mutations: Broad clinical expression and distinctive muscle imaging pattern E Servián-Morilla, M Cabrera-Serrano, H Takeuchi, N Muelas, ... Neuromuscular Disorders 27, S109-S110, 2017 | 1 | 2017 |
| P. 01 A KLHL40 3′ UTR splice-altering variant causes milder NEM8 L Dofash, G Monahan, E Servián-Morilla, E Rivas, F Faiz, P Sullivan, ... Neuromuscular Disorders 32, S45, 2022 | | 2022 |
| NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay. F Mavillard Saborido, M Madruga Garrido, E Rivas Infante, ... | | 2019 |
