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
Case report: splicing effect of a novel heterozygous variant of the NUS1 gene in a child with epilepsy.
Hu Y et al.
Frontiers in Genetics, 2023
NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity?
Riboldi GM et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2022
Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency.
Yu SH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Genetic disorders of dolichol synthesis and utilization.
Pieters E et al.
Molecular Genetics and Metabolism, 0
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