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
Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review.
Wu C et al.
Journal of Medical Genetics, 2024
Emerging evidence of coding mutations in the ubiquitin-proteasome system associated with cerebellar ataxias.
Ronnebaum SM et al.
Human Genome Variation, 2014
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.
Margolin DH et al.
The New England Journal of Medicine, 2013
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