Associated Papers
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.
Brooker SM et al.
Annals of Neurology, 2025
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
NUS1 Variants Cause Lennox-Gastaut Syndrome Related to Unfolded Protein Reaction Activation.
Shen NX et al.
Molecular Neurobiology, 2024
NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity?
Riboldi GM et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2022
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