Eteplirsen for the treatment of Duchenne muscular dystrophyJerry R. Mendell, Kandice Roush, Loren Bird et al.|Annals of Neurology|2013Cited by 793
Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathyEdward G. Jones, Andrew P. Landstrom, Neda Mazaheri et al.|Scientific Reports|2019Cited by 34