Salbutamol repurposing ameliorates neuromuscular junction defects and muscle atrophy in Col6a1-/- mouse model of collagen VI-related myopathies
The mitochondrial ATP-dependent potassium channel (mitoKATP) controls skeletal muscle structure and function
SEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA
Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis syndrome