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
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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