1. 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
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Foley, A. Reghan, primary, Bolduc, Veronique, additional, Guirguis, Fady, additional, Donkervoort, Sandra, additional, Hu, Ying, additional, Orbach, Rotem, additional, McCarty, Riley M., additional, Sarathy, Apurva, additional, Norato, Gina, additional, Cummings, Beryl B., additional, Lek, Monkol, additional, Sarkozy, Anna, additional, Butterfield, Russell J., additional, Kirschner, Janbernd, additional, Nascimento, Andres, additional, Natera-de Benito, Daniel, additional, Quijano-Roy, Susana, additional, Stojkovic, Tanya, additional, Merlini, Luciano, additional, Comi, Giacomo, additional, Ryan, Monique, additional, McDonald, Denise, additional, Munot, Pinki, additional, Yoon, Grace, additional, Leung, Edward, additional, Finanger, Erika, additional, Leach, Meganne E., additional, Collins, James, additional, Tian, Cuixia, additional, Mohassel, Payam, additional, Neuhaus, Sarah B., additional, Saade, Dimah, additional, Cocanougher, Benjamin, additional, Chu, Mary-Lynn, additional, Scavina, Mena, additional, Grosmann, Carla, additional, Randal, Richardson, additional, Kossak, Brian D., additional, Gospe, Sidney M., additional, Bhise, Vikram, additional, Taurina, Gita, additional, Lace, Baiba, additional, Troncoso, Monica, additional, Shohat, Mordechai, additional, Shalata, Adel, additional, Chan, Sophelia H.S., additional, Jokela, Manu, additional, Palmio, Johanna, additional, Haliloglu, Goknur, additional, Jou, Cristina, additional, Gartioux, Corine, additional, Solomon-Degefa, Herimela, additional, Freiburg, Carolin D., additional, Schiavinato, Alvise, additional, Zhou, Haiyan, additional, Aguti, Sara, additional, Nevo, Yoram, additional, Nishino, Ichizo, additional, Jimenez-Mallebrera, Cecilia, additional, Lamande, Shireen R., additional, Allamand, Valerie, additional, Gualandi, Francesca, additional, Ferlini, Alessandra, additional, MacArthur, Daniel, additional, Wilton, Steve D., additional, Wagener, Raimund, additional, Bertini, Enrico, additional, Muntoni, Francesco, additional, and Bonnemann, Carsten G., additional
- Published
- 2024
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