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
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
A high definition picture of somatic mutations in chronic lymphoproliferative disorder of natural killer cells.
Gasparini VR et al.
Blood Cancer Journal, 2020
32321919 (PubMed )
Supplement: 41408_2020_309_MOESM4_ESM.pdf
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Byrne S et al.
Brain : a Journal of Neurology, 2016
First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.
Ehmke N et al.
American Journal of Medical Genetics. Part A, 2014
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
Cullup T et al.
Nature Genetics, 2013
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