Associated Papers
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
NUS1 Variants Cause Lennox-Gastaut Syndrome Related to Unfolded Protein Reaction Activation.
Shen NX et al.
Molecular Neurobiology, 2024
Case Report: Clinical Features of a Chinese Boy With Epileptic Seizures and Intellectual Disabilities Who Carries a Truncated NUS1 Variant.
Zhang P et al.
Frontiers in Pediatrics, 2021
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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