Associated Papers
De novo variants in UPF1 associated with intellectual disabilities: Human genetic and functional evidences using Drosophila model.
Nakato D et al.
European Journal of Medical Genetics, 2024
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.
Hildebrand MS et al.
Neurology, 2020
Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response.
Johnson JL et al.
Neuron, 2019
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