Author

Beatrice Labella

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Open access Sep 2026

Genome sequencing improves diagnostic outcomes over panel and exome sequencings in myopathies: findings from the French PFMG2025 initiative

Genome Sequencing showed GS as a valuable and feasible approach allowing the elucidation of complex variants and the discovery of new pathogenic mechanisms in the context of myopathy, as part of a large national scale GS strategy piloted by the French Genomic Medicine Initiative.

Camille Verebi, A. Maino, C. Métay et al. · Genome Medicine · 0 citations

Open access Sep 2026

The actomyosin cortex controls t-tubule remodeling in skeletal muscle

It is shown that the actomyosin cortex beneath the plasma membrane, regulated by Arp2/3 complexes containing Arpc5, acts as a gatekeeper for the membrane availability during t-tubule growth.

A. R. Pereira, Silvia Di Francescantonio, Ana da Rosa Soares et al. · Science Advances · 0 citations