Associated Papers
An Updated Canvas of the RFC1-mediated CANVAS (Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome).
Shukla S et al.
Molecular Neurobiology, 2025
A multi-exon RFC1 deletion in a case of CANVAS: expanding the genetic mechanism of disease.
Davies KC et al.
Journal of Neurology, 2024
Variability in the Results of Vestibular Assessment in Patients with Genetically Confirmed Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.
Fernandez-Rueda M et al.
The Journal of International Advanced Otology, 2023
New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene.
Arteche-López A et al.
Clinical Genetics, 2023
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