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Page 1
Genotype-phenotype correlations in recessive titinopathies.
Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, Jokela M, Sarkozy A, Luo S, Díaz-Manera J, Ehrstedt C, Rojas-García R, Sáenz A, Muelas N, Lonardo F, Fodstad H, Qureshi T, Johari M, Välipakka S, Luque H, Petiot P, de Munain AL, Pane M, Mercuri E, Torella A, Nigro V, Astrea G, Santorelli FM, Bruno C, Kuntzer T, Illa I, Vílchez JJ, Julien C, Ferreiro A, Malandrini A, Zhao CB, Casar-Borota O, Davis M, Muntoni F, Hackman P, Udd B. Savarese M, et al. Genet Med. 2020 Dec;22(12):2029-2040. doi: 10.1038/s41436-020-0914-2. Epub 2020 Aug 11. Genet Med. 2020. PMID: 32778822 Free article.
Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy.
Berntsson SG, Matsson H, Kristoffersson A, Niemelä V, van Duyvenvoorde HA, Richel-van Assenbergh C, van der Klift HM, Casar-Borota O, Frykholm C, Landtblom AM. Berntsson SG, et al. Among authors: casar borota o. Front Genet. 2023 Sep 19;14:1226766. doi: 10.3389/fgene.2023.1226766. eCollection 2023. Front Genet. 2023. PMID: 37795243 Free PMC article.
Tubular aggregates in congenital myasthenic syndrome.
Feresiadou A, Casar-Borota O, Dragomir A, Oldfors CH, Stålberg E, Oldfors A. Feresiadou A, et al. Neuromuscul Disord. 2018 Feb;28(2):174-175. doi: 10.1016/j.nmd.2017.11.009. Epub 2017 Nov 24. Neuromuscul Disord. 2018. PMID: 29311015 No abstract available.
55 results