Search Results - "González Mera, L."

Heterozygous CAPN3 missense variants causing autosomal‐dominant calpainopathy in seven unrelated families by 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.

“…Aims Recessive variants in CAPN3 gene are the cause of the commonest form of autosomal recessive limb girdle muscle dystrophy. However, two distinct in‐frame…”
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Autoimmune myopathy with cardiac involvement associated with antimitochondrial antibodies by González Mera, L, Kapetanovic, S, Torné Hernández, L, Jericó Pascual, I, Hernández Lain, A, Vergés, E, Vidal, N, Olivé, M

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G.P.25 by González Mera, L, Salazar, J, Roca, J, Quereda, L. Gonzalez, Gallano, P, Martínez, F, Costelo, J. González, Olive, M

“…Idiopathic cardiomyopathies (ICM) are a group of heterogeneous cardiac diseases that may predispose young patients to sudden cardiac death. They may occur…”
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Statin-associated autoimmune myopathy: A distinct new IFL pattern can increase the rate of HMGCR antibody detection by clinical laboratories by Alvarado-Cardenas, M, Marin, A, Martínez, MA, Martínez, L, Pinal-Fernandez, I, Labrador-Horrillo, M, Balada, E, Mundet-Tuduri, X, Gonzalez-Mera, L, Casademont, J, Acebes, E Martínez, Moreno, PJ, Juarez, C, Grau-Junyent, JM, Pujol-Borrell, R, Selva-O'Callaghan, A

“…Abstract Background and objective Statin-associated autoimmune myopathy (SAAM) with anti-HMGCR antibodies has recently been described. Several specific…”
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478P RNA sequencing as a diagnostic tool in a cohort of 54 undiagnosed patients with neuromuscular diseases by Segarra-Casas, A., Domínguez-González, C., Natera-de-Benito, D., Ortez, C., Nascimiento, A., Hernández-Laín, A., Kapetanovic, S., Rodríguez, M., González-Mera, L., Nedkova, V., Fernández-Torrón, R., López-de Munain, A., Jimenez-Mallebrera, C., Rodríguez-Santiago, B., Gallardo, E., Olivé, M., Gallano, P., González-Quereda, L.

“…The implementation of Next Generation Sequencing, particularly exome sequencing (ES), into clinical practice has revolutionised the genetic diagnosis of rare…”
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P.392 - Inclusion body myositis with granuloma: Case report by Vidal, N., Mera, L. González, Mañá, J., Povedano, M., Olivé, M.

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O.5 Mutations in MuRF1 and MuRF3 cause a novel protein aggregate myopathy and cardiomyopathy by Olivé, M, Abdul-Hussein, S, Oldfors, A, Fürst, D.O, van der Ven, P.F.M, Gonzalez-Mera, L, Gonzalez-Costello, J, Torrejon-Escribano, B, Alio, J, Pou, A, Ferrer, I, Tajsharghi, H

“…MuRF1 and MuRF3 are microtubule-associated proteins that localize to the sarcomeric M-band and Z-line of striated muscle. They are E3 ubiquitin ligases that…”
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P.192 - Autoimmune myopathy with cardiac involvement associated with antimitochondrial antibodies by González Mera, L., Kapetanovic, S., Torné Hernández, L., Jericó Pascual, I., Hernández Lain, A., Vergés, E., Vidal, N., Olivé, M.

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Inclusion body myositis with granuloma: Case report by Vidal, N, Mera, L. González, Mañá, J, Povedano, M, Olivé, M

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G.P.25: Low prevalence of skeletal muscle involvement in patients suffering from idiopathic cardiomyopathy by González Mera, L., Salazar, J., Roca, J., Quereda, L. Gonzalez, Gallano, P., Martínez, F., Costelo, J. González, Olive, M.

“…Idiopathic cardiomyopathies (ICM) are a group of heterogeneous cardiac diseases that may predispose young patients to sudden cardiac death. They may occur…”
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P1.18 Dystrophinopathy in manifesting female carriers: Clinical and genetic characterization in a cohort of 20 patients by Juan-Mateu, J, Verdura, E, Rodriguez, M.J, Gonzalez-Quereda, L, Colomer, J, Díaz-Manera, J, Gallardo, E, Gonzalez-Mera, L, Macaya, A, Munell, F, Nascimento, A, Navarro, C, Olive, M, Pascual, J, Pou, A, Rivas, E, Roig, M, Baiget, M, Gallano, P, Madruga, M, Jimenez-Mallebrera, C

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P2.17 Intranuclear rods in three Spanish families with ZASPopathy by Olive, M, Odgerel, Z, Martinez, A, Poza, J.J, Garcia-Bragado, F, Jericó, I, Maravi, E, Ramos-Arroyo, M, Gonzalez-Mera, L, Goldfarb, L.G

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EP.05New POLG mutation causing autosomal dominant PEO, proximal and distal myopathy and respiratory failure by Gonzalez Mera, L., Carreño-Gago, L., Pellisé, A., Paramonov, I., García-Arumí, E., Olivé, M.

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IMAGING by Dominguez-Gonzalez, C., Fernandez-Torron, R., Moore, U., Velez, B., Perez, J. Alonso, Gonzalez-Mera, L., Olivé, M., García, J. García, Morís, G., Hernández, J. León, Muelas, N., de Fuenmayor Fernández de la H, C., Martín, M., Díaz-Manera, J., Paradas, C.

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IMAGING: EP.333 Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis by Dominguez-Gonzalez, C., Fernandez-Torron, R., Moore, U., Velez, B., Perez, J. Alonso, Gonzalez-Mera, L., Olivé, M., García, J. García, Morís, G., Hernández, J. León, Muelas, N., de Fuenmayor Fernández de la H, C., Martín, M., Díaz-Manera, J., Paradas, C.

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