| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| closedAccess |  | 1-abr-2023 | A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism | Dofash, Lein N. H.; Monahan, Gavin V.; Servián Morilla, E. CSIC ORCID; Rivas Infante, Eloy; Faiz, Fathimath; Sullivan, Patricia; Oates, Emily; Clayton, Joshua; Taylor, Rhonda L.; Davis, Mark R.; Beilharz, Traude; Laing, Nigel G.; Cabrera-Serrano, Macarena CSIC ORCID; Ravenscroft, Gianina | artículo |
| openAccess |  | 10-ago-2022 | A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism | Dofash, Lein N. H.; Monahan, Gavin V.; Servián Morilla, E. CSIC ORCID; Rivas Infante, Eloy; Faiz, Fathimath; Sullivan, Patricia; Oates, Emily; Clayton, Joshua; Taylor, Rhonda L.; Davis, Mark R.; Beilharz, Traude; Laing, Nigel G.; Cabrera-Serrano, Macarena CSIC ORCID; Ravenscroft, Gianina | preprint |
| closedAccess |  | dic-2023 | Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy | Mavillard, Fabiola CSIC ORCID; Servián Morilla, E. CSIC ORCID; Dofash, Lein; Rojas-Marcos, Iñigo; Folland, Chiara; Monahan, Gavin; Gutierrez-Gutierrez, Gerardo; Rivas, Eloy; Hernández-Laín, Aurelio; Valladares, Amador CSIC; Cantero, Gloria; Morales, Jose M.; Laing, Nigel G.; Paradas, Carmen CSIC ORCID; Ravenscroft, Gianina; Cabrera-Serrano, Macarena CSIC ORCID | artículo |
| openAccess |  | 1-mar-2019 | Altered myogenesis and premature senescence underlie human TRIM32-related myopathy | Servián Morilla, E. CSIC ORCID; Cabrera-Serrano, Macarena CSIC ORCID; Rivas Infante, Eloy; Carvajal, A.; Lamont, P. J.; Pelayo-Negro, Ana L.; Ravenscroft, Gianina; Junckerstorff, R.; Dyke, J. M.; Fletcher, S.; Adams, A. M.; Mavillard, Fabiola CSIC ORCID; Fernández-García, M. A.; Nieto-González, J. CSIC ORCID; Laing, Nigel G.; Paradas, Carmen CSIC ORCID | artículo |
| closedAccess |  | feb-2021 | Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families | González-Mera, Laura; Ravenscroft, Gianina; Cabrera-Serrano, Macarena CSIC ORCID; Ermolova, N.; Domínguez-Gonzalez, Cristina; Arteche-López, A.; Soltanzadeh, P.; Evesson, F.; Navas, C.; Mavillard, Fabiola CSIC ORCID; Clayton, J.; Rodrigo, P.; Servián Morilla, E. CSIC ORCID; Cooper, S. T.; Waddell, L.; Reardon, K.; Corbett, A.; Hernández-Laín, Aurelio; Sánchez, A.; Esteban Pérez, J.; Paradas, Carmen CSIC ORCID; Rivas Infante, Eloy; Spencer, M.; Laing, Nigel G.; Olivé, Montse | artículo |
| openAccess |  | jul-2022 | Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis | Domínguez-Gonzalez, Cristina; Fernández-Torrón, Roberto; Moore, Ursula; Fuenmayor-Fernández de la Hoz, Carlos Pablo de; Vélez Gómez, Beatriz CSIC ORCID; Cabezas, Juan A. CSIC ORCID; Alonso-Pérez, Jorge; González-Mera, Laura; Olivé, Montse; García-García, Jorge; Moris, Germán; León Hernández, Juan Carlos; Muelas, Nuria; Servián Morilla, E. CSIC ORCID; Martín, Miguel Ángel; Díaz-Manera, Jordi; Paradas, Carmen CSIC ORCID | artículo |
| closedAccess |  | jul-2021 | Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy | Mavillard, Fabiola CSIC ORCID; Servián Morilla, E. CSIC ORCID; Rivas Infante, Eloy; Paradas, Carmen CSIC ORCID; Cabrera-Serrano, Macarena CSIC ORCID | artículo |
| openAccess |  | 2019 | NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay | Mavillard, Fabiola CSIC ORCID; Madruga, Marcos CSIC; Rivas Infante, Eloy; Servián Morilla, E. CSIC ORCID; Ávila Polo, Rainiero CSIC; Marcos Luque, Irene CSIC; Morón, Francisco J. CSIC ORCID CVN; Paradas, Carmen CSIC ORCID; Cabrera-Serrano, Macarena CSIC ORCID | artículo |
| openAccess |  | 2010 | Papel de la proteína de adhesión sináptica neurexina 1 en autismo | Camacho García, R. J. CSIC; Pecero López, M. L. CSIC; Servián Morilla, E. CSIC ORCID; Planelles Fernández, I.; Margalef Estivil, M.; Meléndez Cadenas, Ricardo CSIC; Vilella, Elisabet; Martínez Mir, Amalia CSIC ORCID; Gómez Scholl, F. CSIC ORCID | comunicación de congreso |
| closedAccess |  | mar-2020 | POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern | Servián Morilla, E. CSIC ORCID; Cabrera-Serrano, Macarena CSIC ORCID; Johnson, K.; Pandey, A.; Ito, A.; Rivas Infante, Eloy; Chamova, T.; Muelas, Nuria; Mongini, T.; Nafissi, S.; Claeys, Kristl G.; Grewal, R. P.; Takeuchi, M.; Hao, H.; Bönnemann, C.; Lopes Abath Neto, O.; Medne, L.; Brandsema, J.; Töpf, A.; Taneva, A.; Vilchez, J. J.; Tournev, I.; Haltiwanger, R. S.; Takeuchi, H.; Jafar-Nejad, H.; Straub, Volker; Paradas, Carmen CSIC ORCID | artículo |
| openAccess |  | 2011 | Presenilin/Gamma-Secretase Regulates Neurexin Processing at Synapses | Saura, Carlos A.; Servián Morilla, E. CSIC ORCID; Scholl, Francisco G. | artículo |
| closedAccess |  | oct-2013 | The inactivation of PS activity affects vesicle release at neurexinneuroligin synapsis by abnormal processing of neurexins | Servián Morilla, E. CSIC ORCID; Camacho García, R. J. CSIC; Robles Lanuza, Estefanía CSIC; Martínez Mir, Amalia CSIC ORCID; Gómez Scholl, F. CSIC ORCID | póster de congreso |
