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
A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome.
Durmaz Çelik N et al.
Bmc Medical Genomics, 2023
Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings.
Calandra CR et al.
Movement Disorders Clinical Practice, 2019
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
Gordon Holmes syndrome: finally genotype meets phenotype.
Mehmood S et al.
Practical Neurology, 2017
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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