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Neurology. Clinical Practice|December 28, 2018
Consensus-based care recommendations for adults with myotonic dystrophy type 1Tetsuo Ashizawa, Cynthia Gagnon, William J Groh, et al.Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
The recurrent deep intronic pseudoexon-inducing variant <i>COL6A1</i> c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapyA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.Brain : a Journal of Neurology|April 3, 2025
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>TA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.Pageof 7