Research output per year
Research output per year
Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps
Segarra Casas, A., Iruzubieta, P., Kapetanovic, S., Hernández-Laín, A., Jericó, I., Fernández-Torrón, R., Maneiro, M., Marco-Moreno, P., Zelaya-Huerta, M. V., Rodríguez-Santiago, B., Calafell, F., Töpf, A., Straub, V., Vallejo-Illarramendi, A., López de Munain, A., Gallano, P. & Gonzalez-Quereda, L., 1 Jan 2025, In: European Journal of Neurology. 32, 1, 9 p., e16471.Research output: Contribution to journal › Article › Research › peer-review
Open Access -
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis : New splicing events
Segarra Casas, A., Domínguez-González, C., Hernández-Laín, A., Sanchez-Calvin, M. T., Camacho, A., Rivas, E., Campo-Barasoain, A., Madruga, M., Ortez, C., Natera-De Benito, D., Nascimento, A., Codina, A., Rodriguez, M. J., Gallano, P. & González-Quereda, L., 2023, In: Journal of Medical Genetics. 60, 6, p. 0615-619 5 p.Research output: Contribution to journal › Article › Research › peer-review
Open Access12 Citations (Scopus) -
Case report : De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness
Alías, L., López de Heredia, M., Luna Mariné, S., Clivillé, N., Gonzalez-Quereda, L., Gallano, P., de Juan, J., Pujol-Olmo, A., Diez, S., Boronat, S., Orús Dotú, C., Lasa, A. & Venegas, M. D. P., 2022, In: Frontiers in Genetics. 13Research output: Contribution to journal › Article › Research › peer-review
Open Access3 Citations (Scopus) -
Dystrophinopathy Phenotypes and Modifying Factors in Exon 45-55 Deletion
Poyatos-García, J., Martí, P., Liquori, A., Muelas, N., Pitarch, I., Martinez-Dolz, L., Rodríguez, B., Gonzalez-Quereda, L., Damiá, M., Aller, E., Selva-Gimenez, M., Vilchez, R., Diaz-Manera, J., Alonso-Pérez, J., Bárcena LLona, J. E., Jauregui, A., Gamez, J., Aladrén, J. A., Fernández, A. & Montolio, M. & 7 others, , 2022, In: Annals of Neurology. 92, p. 793-806 14 p.Research output: Contribution to journal › Article › Research › peer-review
Open Access10 Citations (Scopus) -
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy
Alonso-Pérez, J., Gonzalez-Quereda, L., Bruno, C., Panicucci, C., Alavi, A., Nafissi, S., Nilipour, Y., Zanoteli, E., Isihi, L. M. D. A., Melegh, B., Hadzsiev, K., Muelas, N., Vílchez, J. J., Dourado, M. E., Kadem, N., Kutluk, G., Umair, M., Younus, M., Pegorano, E. & Bello, L. & 8 others, , 2021, In: Brain. 145, p. 0596-606 11 p.Research output: Contribution to journal › Article › Research › peer-review
Open Access18 Citations (Scopus)
Thesis
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Transcriptome analysis of undiagnosed patients affected by neuromuscular diseases: optimization of the diagnostic algorithm(en curs)
Segarra Casas, A. (Author) & Gonzalez Quereda, L. (Author), Surralles Calonge, J. (Director), 2024Student thesis: Doctoral thesis