<scp><i>GGPS1</i></scp> Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency SyndromeA. Reghan Foley(National Institutes of Health), Carsten G. Bönnemann(National Institutes of Health)Annals of NeurologyMay 14, 202010.1002/ana.25772Cited by 39SaveCiteExport RISWatch citationsRelated PapersA recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies|JCI Insight|2019|66Unusually severe muscular dystrophy upon in-frame deletion of the dystrophin rod domain and lack of compensation by membrane-localized utrophin|Med|2023|8