Autosomal dominant distal myopathy: further evidence of a chromosome 14 locusThomas Voït, Ralf Herrmann, M. L. Vaccario et al.|Neuromuscular Disorders|2001Cited by 63
Mutations in EPG5 are associated with a wide spectrum of neurodevelopmental and neurodegenerative disordersHormos Salimi Dafsari, Sheela Nampoothiri, Celine Deneubourg et al.|medRxiv|2024Cited by 4
Mutations in the Key Autophagy Tethering Factor <scp>EPG5</scp> Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset ParkinsonismHormos Salimi Dafsari, Frances Elmslie, Celine Deneubourg et al.|Annals of Neurology|2025Cited by 3