Biljana Ermanoska

This study identifies a heterozygous 9q34 deletion involving SPTAN1 as a cause of distal myopathy, showing age-dependent effects and highlighting CNV detection in exome sequencing for diagnosis.

This study identifies a presynaptic actomyosin structure at Drosophila NMJs regulated by non-muscle myosin II, which maintains mechanical continuity and influences neuronal mechanobiology.