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
Novel NUS1 variant in a Chinese patient with progressive myoclonus epilepsy: a case report and systematic review.
Ji C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
Genetic disorders of dolichol synthesis and utilization.
Pieters E et al.
Molecular Genetics and Metabolism, 0
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