Norma Beatriz Romero

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

This study identifies endosomal pathway dysfunction in DMD muscle cells and shows that Rab5 upregulation contributes to endosomal defects, which can be mitigated by Rab5 knock-down or dystrophin restoration.

This study demonstrates the functional benefit of deleting a dominant RYR1 mutation using CRISPR/Cas9 in patient-derived muscle cells.

IMPatienT is a web application that digitizes, processes, and explores multimodal patient data, enabling EDA and diagnosis suggestions through a modular architecture.

The paper identifies heterozygous frameshift variants in hnRNPA2B1 causing early-onset oculopharyngeal muscular dystrophy by altering nucleocytoplasmic transport.

This study shows that reducing RyR1 in mice causes muscle weakness, atrophy, and structural changes similar to Central Core Disease.

This study shows that clathrin plaques and dynamin 2 anchor desmin intermediate filaments and regulate YAP signaling in skeletal muscle in response to mechanical cues.