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
Biallelic Variants in EPG5 Gene Are Associated with Parkinson's Disease.
Sun QY et al.
Annals of Neurology, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
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
The first Chinese case of Vici syndrome with novel compound heterozygous sequence variants in EPG5.
Dong L et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2021
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Byrne S et al.
Brain : a Journal of Neurology, 2016
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