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
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.
Benkirane M et al.
Brain : a Journal of Neurology, 2022
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