Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family—causal or casual?
Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family—causal or casual?
About this item
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Publisher
Cham: Springer International Publishing
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Language
English
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Publisher
Cham: Springer International Publishing
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Contents
Introduction
Biallelic intronic AAGGG repeat expansion in the replication factor C subunit 1 (RFC1) gene was recently identified in two/third of patients with cerebellar ataxia, sensory neuropathy, and bilateral vestibular areflexia syndrome (CANVAS). The phenotypic spectrum has expanded since (i.e., parkinsonism, motor neuron involvement, cogni...
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Full title
Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family—causal or casual?
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Record Identifier
TN_cdi_proquest_miscellaneous_2666906801
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2666906801
Other Identifiers
ISSN
1590-1874
E-ISSN
1590-3478
DOI
10.1007/s10072-022-06137-1
