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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: troncoso m. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673. medRxiv. 2024. PMID: 38585825 Free PMC article. Preprint.
Exploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review.
de Pedro Baena S, Sariego Jamardo A, Castro P, López González FJ, Sánchez Carpintero R, Cerisola A, Troncoso M, Witting S, Barrios A, Fons C, López Pisón J, Ortigoza-Escobar JD. de Pedro Baena S, et al. Among authors: troncoso m. Mov Disord Clin Pract. 2023 Sep 25;10(11):1671-1679. doi: 10.1002/mdc3.13880. eCollection 2023 Nov. Mov Disord Clin Pract. 2023. PMID: 37982109 Review.
Surface immunogenic protein from Streptococcus agalactiae and Fissurella latimarginata hemocyanin are TLR4 ligands and activate MyD88- and TRIF dependent signaling pathways.
Díaz-Dinamarca DA, Salazar ML, Escobar DF, Castillo BN, Valdebenito B, Díaz P, Manubens A, Salazar F, Troncoso MF, Lavandero S, Díaz J, Becker MI, Vásquez AE. Díaz-Dinamarca DA, et al. Among authors: troncoso mf. Front Immunol. 2023 Sep 18;14:1186188. doi: 10.3389/fimmu.2023.1186188. eCollection 2023. Front Immunol. 2023. PMID: 37790926 Free PMC article.
181 results