Associated Papers
Expanding the Phenotypic Spectrum of NUS1-Related Disorders: A Case of Childhood-Onset Parkinsonism.
Munoz-Chesta D et al.
Movement Disorders Clinical Practice, 2026
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.
Brooker SM et al.
Annals of Neurology, 2025
Case Report: De novo variant of the NUS1 gene associated with developmental delay and autism spectrum disorders in a Chinese family.
Ding F et al.
Frontiers in Pediatrics, 2025
Genome sequencing reanalysis increases the diagnostic yield in dystonia.
Fellner A et al.
Parkinsonism & Related Disorders, 2024
Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report.
Den K et al.
Bmc Neurology, 2019
Genetic disorders of dolichol synthesis and utilization.
Pieters E et al.
Molecular Genetics and Metabolism, 0
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