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Author

Teresinha Evangelista

2 papers indexed here

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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

Myopathies represent a very heterogeneous group of disease with multiple underlying causes, challenging for molecular genetic diagnosis. Hence, the diagnostic yield is very variable within the different myopathy subtypes. Current diagnostic strategies mainly rely on gene-panel or exome sequencing (ES) approaches,...

Camille Verebi, A. Maino, C. Métay et al. · 0 citations
Open access Sep 2026

The actomyosin cortex controls t-tubule remodeling in skeletal muscle

A network of plasma membrane invaginations called t-tubules plays an essential role in controlling calcium release from the endoplasmic reticulum at the triads during muscle contraction. Although the importance of t-tubules for muscle physiology is well established, and abnormalities are found in muscle disorders, the...

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

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