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  • 60 Citations
  • 4 h-Index
20112019

Research output per year

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Research Output

  • 60 Citations
  • 4 h-Index
  • 5 Article

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

Alonso-Jimenez, A., Kroon, R. H. M. J. M., Alejaldre-Monforte, A., Nuñez-Peralta, C., Horlings, C. G. C., Van Engelen, B. G. M., Olive, M., González, L., Verges-Gil, E., Paradas, C., Márquez, C., Garibaldi, M., Gallano, P., Rodriguez, M. J., Gonzalez-Quereda, L., Dominguez Gonzalez, C., Vissing, J., Fornander, F., Eisum, A. S. V., García-Sobrino, T. & 30 others, Pardo, J., García-Figueiras, R., Muelas, N., Vilchez, J. J., Kapetanovic, S., Tasca, G., Monforte, M., Ricci, E., Gomez, M. T., Bevilacqua, J. A., Diaz-Jara, J., Zamorano, I. I., Carlier, R. Y., Laforet, P., Pelayo-Negro, A., Ramos-Fransi, A., Martínez, A., Marini-Bettolo, C., Straub, V., Gutiérrez, G., Stojkovic, T., Martín, M. A., Morís, G., Fernández-Torrón, R., Lopez De Munaín, A., Cortes-Vicente, E., Querol, L., Rojas-García, R., Illa, I. & Diaz-Manera, J., 1 May 2019, In : Journal of Neurology, Neurosurgery and Psychiatry. 90, p. 576-585

Research output: Contribution to journalArticleResearch

  • 6 Citations (Scopus)

    Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

    Bogliolo, M., Pujol, R., Aza-Carmona, M., Muñoz-Subirana, N., Rodriguez-Santiago, B., Casado, J. A., Rio, P., Bauser, C., Reina-Castillón, J., Lopez-Sanchez, M., Gonzalez-Quereda, L., Gallano, P., Catalá, A., Ruiz-Llobet, A., Badell, I., Diaz-Heredia, C., Hladun, R., Senent, L., Argiles, B., Bergua Burgues, J. M. & 48 others, Bañez, F., Arrizabalaga, B., López Almaraz, R., Lopez, M., Figuera, Á., Molinés, A., Pérez De Soto, I., Hernando, I., Muñoz, J. A., Del Rosario Marin, M., Balmaña, J., Stjepanovic, N., Carrasco, E., Cuesta, I., Cosuelo, J. M., Regueiro, A., Moraleda Jimenez, J., Galera-Miñarro, A. M., Rosiñol, L., Carrió, A., Beléndez-Bieler, C., Escudero Soto, A., Cela, E., De La Mata, G., Fernández-Delgado, R., Garcia-Pardos, M. C., Sáez-Villaverde, R., Barragaño, M., Portugal, R., Lendinez, F., Hernadez, I., Vagace, J. M., Tapia, M., Nieto, J., Garcia, M., Gonzalez, M., Vicho, C., Galvez, E., Valiente, A., Antelo, M. L., Ancliff, P., Garcia, F., Dopazo, J., Sevilla, J., Paprotka, T., Pérez-Jurado, L. A., Bueren, J. & Surralles, J., 1 Jan 2019, In : Journal of Medical Genetics.

    Research output: Contribution to journalArticleResearch

  • 3 Citations (Scopus)

    A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement

    Gonzalez-Quereda, L., Gallardo, E., Töpf, A., Alonso-Jimenez, A., Straub, V., Rodriguez, M. J., Lleixa, C., Illa, I., Gallano, P. & Diaz-Manera, J., 1 Aug 2018, In : Neuromuscular Disorders. 28, 8, p. 633-638

    Research output: Contribution to journalArticleResearchpeer-review

  • 6 Citations (Scopus)

    Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

    Díaz-Manera, J., Alejaldre, A., González, L., Olivé, M., Gómez-Andrés, D., Muelas, N., Vílchez, J. J., Llauger, J., Carbonell, P., Márquez-Infante, C., Fernández-Torrón, R., Poza, J. J., López de Munáin, A., González-Quereda, L., Mirabet, S., Clarimon, J., Gallano, P., Rojas-García, R., Gallardo, E. & Illa, I., 1 Jan 2016, In : Neuromuscular Disorders. 26, 1, p. 33-40

    Research output: Contribution to journalArticleResearchpeer-review

  • 20 Citations (Scopus)

    Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy

    Gallardo, E., de Luna, N., Diaz-Manera, J., Rojas-García, R., Gonzalez-Quereda, L., Flix, B., de Morrée, A., van der Maarel, S. & Illa, I., 16 Dec 2011, In : PLoS ONE. 6, 12, e29061.

    Research output: Contribution to journalArticleResearchpeer-review

  • 25 Citations (Scopus)