Approach to the diagnosis of congenital myopathiesKathryn N. North, C. Bönnemann, Ching H. Wang et al.|Neuromuscular Disorders|2013Cited by 324
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagyThomas Cullup, Heinz Jungbluth, Mohammed Al‐Owain et al.|Nature Genetics|2012Cited by 279
Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (<i>MYH7</i>) Distal MyopathyPhillipa J. Lamont, Nigel G. Laing, William Wallefeld et al.|Human Mutation|2014Cited by 98
An ancestral 10-bp repeat expansion in <i>VWA1</i> causes recessive hereditary motor neuropathyAlistair T. Pagnamenta, Emma L. Baple, Rauan Kaiyrzhanov et al.|Brain|2020Cited by 55
Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in <i>Drosophila</i> and Vici syndrome patientsCeline Deneubourg, Manolis Fanto, Hormos Salimi Dafsari et al.|Autophagy|2024Cited by 10