A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain
Carbonell-Corvillo, P., Tristán-Clavijo, E., Cabrera-Serrano, M., Servián-Morilla, E., García-Martín, G., Villarreal-Pérez, L., Rivas-Infante, E., Area-Gómez, E., Chamorro-Muñoz, M.I., Gil-Gálvez, A., Miranda-Vizuete, A., Martinez-Mir, A., Laing, N., Paradas, C.
Published in Neuromuscular disorders : NMD (01.10.2018)
Published in Neuromuscular disorders : NMD (01.10.2018)
Get full text
Journal Article
Utrophin immunohistochemical expression in neuromuscular disorders
Avila-Polo, R, Rivas, E, Cabrera-Serrano, M, Carbonell, P, Rojas-Marcos, I, Morgado, Y, Servian, E, Madruga, M, Marquez, C, Paradas, C
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
Heterozygous CAPN3 missense variants causing autosomal‐dominant calpainopathy in seven unrelated families
González‐Mera, L., Ravenscroft, G., Cabrera‐Serrano, M., Ermolova, N., Domínguez‐González, C., Arteche‐López, A., Soltanzadeh, P., Evesson, F., Navas, C., Mavillard, F., Clayton, J., Rodrigo, P., Servián‐Morilla, E., Cooper, S. T, Waddell, L., Reardon, K., Corbett, A., Hernandez‐Laín, A., Sanchez, A., Esteban Perez, J., Paradas‐Lopez, C., Rivas‐Infante, E., Spencer, M., Laing, N., Olivé, M.
Published in Neuropathology and applied neurobiology (01.02.2021)
Published in Neuropathology and applied neurobiology (01.02.2021)
Get full text
Journal Article
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern
Servián-Morilla, E., Cabrera-Serrano, M., Johnson, K., Pandey, A., Ito, A., Rivas, E., Chamova, T., Muelas, N., Mongini, T., Nafissi, S., Claeys, K. 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, V., Paradas, Carmen
Published in Acta neuropathologica (01.03.2020)
Published in Acta neuropathologica (01.03.2020)
Get full text
Journal Article
Novel mutation in TRIM32 is associated to a distal myopathy and disrupted myogenesis
Servian-Morilla, E, Carvajal, A, Rivas-Infante, E, Paradas, C
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy
Servián-Morilla, E, Cabrera-Serrano, M, Rivas-Infante, E, Carvajal, A, Lamont, P J, Pelayo-Negro, A L, Ravenscroft, G, Junckerstorff, R, Dyke, J M, Fletcher, S, Adams, A M, Mavillard, F, Fernández-García, M A, Nieto-González, J L, Laing, N G, Paradas, C
Published in Acta neuropathologica communications (01.03.2019)
Published in Acta neuropathologica communications (01.03.2019)
Get full text
Journal Article
A novel mutation in collagen VI as a cause for inter-generational and intra-generational phenotypic heterogeneity in myopathies related to collagen-VI
Mendez del Barrio, C, Servian Morillo, E, Carbonell Corvillo, P, Villarreal, L, Rivas, E, Paradas López, C
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
A POGLUT1 mutation causes a muscular dystrophy with reduced notch signaling and satellite cell loss
Servian-Morilla, E, Mavillard, F, Cantero-Nieto, G, Takeuchi, H, Clarimon, J, Bigot, A, Fernández-Chacón, R, Haltiwanger, R, Jafar-Nejad, H, Paradas, C
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
P.405 - Utrophin immunohistochemical expression in neuromuscular disorders
Avila-Polo, R., Rivas, E., Cabrera-Serrano, M., Carbonell, P., Rojas-Marcos, I., Morgado, Y., Servian, E., Madruga, M., Marquez, C., Paradas, C.
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
A novel MYH7 mutation causing the Laing distal myopathy in Andalucia
Carbonell Corvillo, P, Servián-Morilla, E, Tristán Clavijo, E, Gil-Gálvez, A, García Martín, G, Rivas Infante, E, Villarreal Pérez, L, Márquez Infante, C, Chamorro Muñoz, M, Cabrera Serrano, M, Miranda-Vizuete, A, Martínez Mir, A, Paradas López, C
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
Dystroglycanopathy: Description of the first patient cohort in Spain
Adarmes Gómez, A, Servián Morilla, E, Rivas Infante, E, Muñoz Cabello, B, Carbonell Corvillo, P, Villarreal Pérez, L, Martínez Fernández, E, Fernández Ramos, J, Arrabal Fernández, L, Ley Martos, M, Márquez Infante, C, Madruga Garrido, M, Paradas López, C
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
P.5 - Novel mutation in TRIM32 is associated to a distal myopathy and disrupted myogenesis
Servian-Morilla, E., Carvajal, A., Rivas-Infante, E., Paradas, C.
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
P.343 - A novel mutation in collagen VI as a cause for inter-generational and intra-generational phenotypic heterogeneity in myopathies related to collagen-VI
Mendez del Barrio, C., Servian Morillo, E., Carbonell Corvillo, P., Villarreal, L., Rivas, E., Paradas López, C.
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
S.O.4 - A POGLUT1 mutation causes a muscular dystrophy with reduced notch signaling and satellite cell loss
Servian-Morilla, E., Mavillard, F., Cantero-Nieto, G., Takeuchi, H., Clarimon, J., Bigot, A., Fernández-Chacón, R., Haltiwanger, R., Jafar-Nejad, H., Paradas, C.
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, [alpha]-dystroglycan hypoglycosylation and a distinctive radiological pattern
Servián-Morilla, E, Cabrera-Serrano, M, Johnson, K, Pandey, A, Ito, A, Rivas, E, Chamova, T
Published in Acta neuropathologica (01.03.2020)
Published in Acta neuropathologica (01.03.2020)
Get full text
Journal Article
CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES
Dofash, L., Faiz, F., Servián-Morilla, E., Rivas, E., Sullivan, P., Oates, E., Clayton, J., Taylor, R., Davis, M., Laing, N., Cabrera-Serrano, M., Ravenscroft, G.
Published in Neuromuscular disorders : NMD (01.10.2021)
Published in Neuromuscular disorders : NMD (01.10.2021)
Get full text
Journal Article
CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES: EP.34 3′UTR variant in KLHL40 causes nemaline myopathy
Dofash, L., Faiz, F., Servián-Morilla, E., Rivas, E., Sullivan, P., Oates, E., Clayton, J., Taylor, R., Davis, M., Laing, N., Cabrera-Serrano, M., Ravenscroft, G.
Published in Neuromuscular disorders : NMD (01.10.2021)
Published in Neuromuscular disorders : NMD (01.10.2021)
Get full text
Journal Article
P.01 A KLHL40 3′UTR splice-altering variant causes milder NEM8
Dofash, L., Monahan, G., Servián-Morilla, E., Rivas, E., Faiz, F., Sullivan, P., Oates, E., Clayton, J., Taylor, R., Davis, M., Beilharz, T., Laing, N., Cabrera-Serrano, M., Ravenscroft, G.
Published in Neuromuscular disorders : NMD (01.10.2022)
Published in Neuromuscular disorders : NMD (01.10.2022)
Get full text
Journal Article
P.38 - The phenotype of POGLUT1 mutations: Broad clinical expression and distinctive muscle imaging pattern
Servián-Morilla, E., Cabrera-Serrano, M., Takeuchi, H., Muelas, N., Rivas-Infante, E., Cantero, G., Mavillard, F., Vilchez, J., Paradas, C.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
Get full text
Journal Article
The phenotype of POGLUT1 mutations: Broad clinical expression and distinctive muscle imaging pattern
Servián-Morilla, E., Cabrera-Serrano, M., Takeuchi, H., Muelas, N., Rivas-Infante, E., Cantero, G., Mavillard, F., Vilchez, J., Paradas, C.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
Get full text
Journal Article