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
EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome.
Kane MS et al.
Neuropediatrics, 2019
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