Associated Papers
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.
Dafsari HS et al.
Annals of Neurology, 2025
41053928 (PubMed )
Supplement: ANA-98-932-s004.xlsx › PATIENTS
A nationwide survey of Vici syndrome in Japan.
Hori I et al.
Brain & Development, 2024
Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the EPG5 Gene.
Selamioğlu A et al.
Molecular Syndromology, 2024
Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes.
Qi Q et al.
Genes, 2020
Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype.
Waldrop MA et al.
American Journal of Medical Genetics. Part A, 2018
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.
Hori I et al.
Scientific Reports, 2017
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