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
Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases.
Saffari A et al.
Autophagy, 2022
WDR45, one gene associated with multiple neurodevelopmental disorders.
Cong Y et al.
Autophagy, 2021
Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants.
Chen H et al.
European Journal of Medical Genetics, 2019
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.
Sajan SA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
WDR45 Mutation in Atypical Rett Syndrome with Brain Iron Accumulation.
Crisp SJ et al.
Movement Disorders Clinical Practice, 2015
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
Hayflick SJ et al.
Brain : a Journal of Neurology, 2013
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