Is Cardiac Transplantation Still a Contraindication in Patients with Muscular Dystrophy-Related End-Stage Dilated Cardiomyopathy? A Systematic Review
Article in International Journal of Molecular Sciences (May 2024)
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Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects
Article in Neuromuscular Disorders (March 2024)
Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications
Article in Human Genetics and Genomics Advances (February 2024)