Manu E. Jokela

The crucial role of titin in fetal development: recurrent miscarriages and bone, heart, and muscle anomalies characterize the severe end of titinopathies spectrum

This study identifies severe developmental anomalies and high miscarriage rates in patients with biallelic titin truncating variants, highlighting the need for TTN evaluation in congenital musculoskeletal and cardiac conditions.

Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis

This study identifies dysregulation of calcium homeostasis and T-cell apoptosis in IBM through transcriptomic analysis of muscle biopsies.

Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis

The paper identifies biallelic loss-of-function OBSCN variants in six patients with severe, recurrent rhabdomyolysis and shows reduced OBSCN expression and impaired SR Ca2+ handling in patient muscle.