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Authors
Macuada, J. https://orcid.org/0000-0001-7310-2233
Molina-Riquelme, I. https://orcid.org/0000-0002-0229-8512
Vidal, G. https://orcid.org/0000-0003-3543-520X
Pérez-Bravo, N.
Vásquez-Trincado, C. https://orcid.org/0000-0003-2606-6860
Aedo, G.
Lagos, D. https://orcid.org/0000-0003-2609-5397
Yu-Wai-Man, P. https://orcid.org/0000-0001-7847-9320
Horvath, R. https://orcid.org/0000-0002-9841-170X
Rudge, T. J. https://orcid.org/0000-0001-9446-9958
Cartes-Saavedra, B. https://orcid.org/0000-0002-2753-5780
Eisner, V. https://orcid.org/0000-0002-9458-7150
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Article History
Received: 2 February 2024
Revised: 9 October 2024
Accepted: 17 October 2024
First Online: 30 November 2024
Competing interests
: PYWM is a consultant for GenSight Biologics, Neurophth Therapeutics, Stoke Therapeutics, and PYC Therapeutics, and has received research support from GenSight Biologics and Santhera Pharmaceuticals. All other authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
: All methods were performed based on Biosafety Protocol #220621005 following the guidelines and regulations from the Research Biosecurity Committee, at Pontificia Universidad Católica de Chile (PUC). Fibroblasts derived from ADOA patients and control individuals were provided by Newcastle Research Biobank for Rare and Neuromuscular Diseases, based on a Material Transference Agreement (MTA) with PUC. The patient´s informed consent was considered as part of the MTA.
