Edoardo Malfatti

The paper shows that collagen abundance alone does not define fibrosis in DMD, as distinct matrix states with different biological activities and mechanosignaling exist.

This study uses patient-derived iPSCs to create 2D and 3D muscle models that replicate RYR1 myopathy phenotypes and test therapeutic efficacy.

The paper presents a framework for interpreting TTN missense variants by integrating clinical, computational, and functional evidence, identifying two variants as likely pathogenic.