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Paper Details

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Brain
128
2020
Ataxia, CANVAS, Cerebellar ataxia, Patients, RFC1, Sensory neuropathy, Sensory symptoms, ataxia, biallelic, biallelic intronic, cerebellar ataxia, cerebellar dysfunction, cerebellar involvement, cough, dizziness, dry spasmodic cough, dysarthria, dysautonomia, falls, imbalance, neurological disability, neuropathy, oscillopsia, patients, replication factor complex subunit 1, sensory ataxic neuropathy, sensory neurons, sensory neuropathy, unsteadiness, vestibular and cerebellar dysfunction, vestibular areflexia syndrome, vestibular involvement, walking difficulty
Author NameAffiliation
James M PolkeUCL Queen Square Institute of Neurology and The National Hospital for Neurology
Rita HorvathUniversity of Cambridge
Patrick F ChinneryUniversity of Cambridge
Patrick F ChinneryUniversity of Cambridge
Nicholas W WoodUCL Queen Square Institute of Neurology and The National Hospital for Neurology
Nicholas W WoodUCL Queen Square Institute of Neurology and The National Hospital for Neurology
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
Nigel G LaingCentre for Medical Research University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre
Nigel G LaingQEII Medical Centre
Henry HouldenUCL Queen Square Institute of Neurology and The National Hospital for Neurology
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