Muscular Diseases

Displaying 1 - 4 of 4CSV
Godbout, K., Dugas, M., Reiken, S. R., Ramezani, S., Falle, A., Rousseau, J., Wronska, A. E., Lamothe, G., Canet, G., Lu, Y., Planel, E., Marks, A. R., & Tremblay, J. P. (2025). Universal Prime Editing Therapeutic Strategy for RyR1-Related Myopathies: A Protective Mutation Rescues Leaky RyR1 Channel. International Journal of Molecular Sciences, 26(7), 2835. https://doi.org/10.3390/ijms26072835
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Berardo, A., Domínguez-González, C., Engelstad, K., & Hirano, M. (2022). Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies. Journal of Neuromuscular Diseases, 9(2), 225–235. https://doi.org/10.3233/jnd-210786
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Yuan, Q., Dridi, H., Clarke, O. B., Reiken, S., Melville, Z., Wronska, A., Kushnir, A., Zalk, R., Sittenfeld, L., & Marks, A. R. (2021). RyR1-related myopathy mutations in ATP and calcium binding sites impair channel regulation. Acta Neuropathologica Communications, 9(1). https://doi.org/10.1186/s40478-021-01287-3
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