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Human Molecular Genetics|August 1, 2019
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and miceAlistair T Pagnamenta, Pierre Heemeryck, Hilary C Martin, et al.Neurology|August 20, 2025
Ultra-High Field 7T MRI in a Drug-Resistant Pediatric Epilepsy Cohort: Image Comparison and Radiologic OutcomesKaty Vecchiato, Chiara Casella, Ayse Sila Dokumaci, et al.Brain : a Journal of Neurology|February 27, 2016
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagySusan Byrne, Lara Jansen, Jean-Marie U-King-Im, et al.Annals of Neurology|October 7, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset ParkinsonismHormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, et al.Pageof 7