Associated Papers
Expanding the spectrum of NUS1-related progressive myoclonic epilepsy: a novel variant and exploratory use of metformin.
Sau C et al.
Frontiers in Genetics, 2025
NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity?
Riboldi GM et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2022
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Brunet T et al.
Clinical Genetics, 2021
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