Associated Papers
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.
Bisarad P et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
41282771 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_3
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
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.
Wagner M et al.
Nature Communications, 2019
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