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Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients.
Bermejo-Guerrero L, de Fuenmayor Fernández-de la Hoz CP, González-Quereda L, Segarra-Casas A, Nedkova V, Gallano P, Martín-Jiménez P, Hernández-Laín A, Olivé M, Arteche-López A, Domínguez-González C. Bermejo-Guerrero L, et al. Among authors: segarra casas a. Neuromuscul Disord. 2023 Dec;33(12):983-987. doi: 10.1016/j.nmd.2023.10.016. Epub 2023 Oct 30. Neuromuscul Disord. 2023. PMID: 38016875
Clinical and functional characteristics, possible causes, and impact of chronic cough in patients with cerebellar ataxia, neuropathy, and bilateral vestibular areflexia syndrome (CANVAS).
Palones E, Curto E, Plaza V, Gonzalez-Quereda L, Segarra-Casas A, Querol L, Bertoletti F, Rodriguez MJ, Gallano P, Crespo-Lessmann A. Palones E, et al. Among authors: segarra casas a. J Neurol. 2024 Mar;271(3):1204-1212. doi: 10.1007/s00415-023-12001-9. Epub 2023 Nov 2. J Neurol. 2024. PMID: 37917234 Free PMC article.
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 MT, Camacho A, Rivas E, Campo-Barasoain A, Madruga M, Ortez C, Natera-de Benito D, Nascimento A, Codina A, Rodriguez MJ, Gallano P, Gonzalez-Quereda L. Segarra-Casas A, et al. J Med Genet. 2023 Jun;60(6):615-619. doi: 10.1136/jmg-2022-108828. Epub 2022 Dec 19. J Med Genet. 2023. PMID: 36535754 Free PMC article.
Enhancers with tissue-specific activity are enriched in intronic regions.
Borsari B, Villegas-Mirón P, Pérez-Lluch S, Turpin I, Laayouni H, Segarra-Casas A, Bertranpetit J, Guigó R, Acosta S. Borsari B, et al. Among authors: segarra casas a. Genome Res. 2021 Aug;31(8):1325-1336. doi: 10.1101/gr.270371.120. Epub 2021 Jul 21. Genome Res. 2021. PMID: 34290042 Free PMC article.