Associated Papers
RNF216 variants found in patients with dementia, hypogonadotropic hypogonadism and severe ataxia deregulate autophagy.
Young J et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Ring finger protein 216 loss-of-function induces white matter hyperintensities by inhibiting oligodendroglia proliferation.
Xu W et al.
Cell Biochemistry and Function, 2024
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
Gauquelin L et al.
Movement Disorders Clinical Practice, 2020
TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation.
Husain N et al.
Aging Cell, 2017
Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
Sawyer SL et al.
Human Mutation, 2014
Emerging evidence of coding mutations in the ubiquitin-proteasome system associated with cerebellar ataxias.
Ronnebaum SM et al.
Human Genome Variation, 2014
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