In this thesis, researchers explored ways to enhance the management of myotonic dystrophy type 1 by investigating the genetic inheritance patterns, especially small-sized repeat expansions, and assessing cardiac care, energy expenditure, and body composition in affected individuals.
4 citations
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February 2022 in “International Journal of Molecular Sciences” This review discusses the similarities between myotonic dystrophy and aging, highlighting the role of cellular senescence in its pathophysiology, and reports no new clinical findings; the authors note potential anti-aging therapy applications.
January 2026 in “Cellular and Molecular Bioengineering” In this study, researchers developed a 3D in vitro model using decellularized Dupuytren’s disease tissue seeded with patient-derived fibroblasts, providing a platform to test antifibrotic therapies like minoxidil and demonstrating more complex drug responses than traditional 2D cultures.
54 citations
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January 2021 in “Biophysics Reports” This review highlights the current progress and application pros and cons of various cell-based screening platforms in drug discovery, discussing challenges and potential improvements for these innovative methods.
8 citations
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March 2015 in “Neuromuscular Disorders” This study found that adult patients with Myotonic Dystrophy type 1 exhibited a higher prevalence of various morphofunctional, inflammatory, and proliferative skin disorders compared to healthy controls.