Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG85
Novel stop-gain RNF170 variation detected in a Chinese family with adolescent-onset hereditary spastic paraplegia.
Fu JX et al.
Clinical Genetics, 2023
A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature.
Chouery E et al.
Neurogenetics, 2022
RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement.
Van Daele SH et al.
European Journal of Neurology, 2022
The emerging link between IP3 receptor turnover and Hereditary Spastic Paraplegia.
Gao X et al.
Cell Calcium, 2020
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.
Wagner M et al.
Nature Communications, 2019
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