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Paper Details

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Nat Genet
288
2019
11 allele, AluSx3, AluSx3 element, CANVAS, Late-onset ataxia, RFC1, ataxia, biallelic, bilateral vestibular areflexia, cerebellar ataxia,, cerebellar, proprioceptive, or vestibular impairment, familial CANVAS, intronic AAGGG repeat, intronic repeat, late-onset ataxia, neuropathy, vestibular areflexia syndrome, nucleotide, patient, poly, replication factor C subunit 1, replication factor C subunit 1 (RFC1) gene, sensory neuronopathy
Author NameAffiliation
Jana VandrovcovaUCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery
James M PolkeUCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery
Nicholas W WoodUCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery
Nicholas W WoodUCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery
Stephan Z??chnerDr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine
Henry HouldenUCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery
Henry HouldenUCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery
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