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The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Benito DN, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. Foley AR, et al. Among authors: wilton sd. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673. medRxiv. 2024. PMID: 38585825 Free PMC article. Preprint.
Response shift in coronary artery disease.
Lawal OA, Awosoga OA, Santana MJ, Ayilara OF, Wang M, Graham MM, Norris CM, Wilton SB, James MT, Sajobi TT. Lawal OA, et al. Among authors: wilton sb. Qual Life Res. 2024 Mar;33(3):767-776. doi: 10.1007/s11136-023-03564-1. Epub 2023 Dec 22. Qual Life Res. 2024. PMID: 38133786
Optimal medical therapy improves outcomes in patients with diabetes mellitus and acute myocardial infarction.
Zhang D, Gao H, Song X, Raposeiras-Roubín S, Abu-Assi E, Paulo Simao Henriques J, D'Ascenzo F, Saucedo J, Ramón González-Juanatey J, Wilton SB, Kikkert WJ, Nuñez-Gil I, Ariza-Sole A, Alexopoulos D, Liebetrau C, Kawaji T, Moretti C, Huczek Z, Nie S, Fujii T, Correia L, Kawashiri MA, Southern D, Kalpak O; Bleeding complications in a Multicenter registry of patients discharged with diagnosis of Acute Coronary Syndrome BleeMACS Registry Investigators. Zhang D, et al. Among authors: wilton sb. Diabetes Res Clin Pract. 2023 Sep;203:110833. doi: 10.1016/j.diabres.2023.110833. Epub 2023 Jul 20. Diabetes Res Clin Pract. 2023. PMID: 37478977
Self-administered intranasal etripamil using a symptom-prompted, repeat-dose regimen for atrioventricular-nodal-dependent supraventricular tachycardia (RAPID): a multicentre, randomised trial.
Stambler BS, Camm AJ, Alings M, Dorian P, Heidbuchel H, Houtgraaf J, Kowey PR, Merino JL, Mondésert B, Piccini JP, Pokorney SD, Sager PT, Verma A, Wharton JM, Bharucha DB, Plat F, Shardonofsky S, Chen M, Ip JE; RAPID Investigators. Stambler BS, et al. Lancet. 2023 Jul 8;402(10396):118-128. doi: 10.1016/S0140-6736(23)00776-6. Epub 2023 Jun 15. Lancet. 2023. PMID: 37331368 Free article. Clinical Trial.
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