The RFC1 80G>A, among Common One-Carbon Polymorphisms, Relates to Survival Rate According to DNA Global Methylation in Primary Liver Cancers. [PDF]
PLoS ONE, 2016 Polymorphisms within one-carbon metabolism genes have been largely studied in relation to cancer risk for the function of this pathway in nucleotide synthesis and DNA methylation.
Sara Moruzzi +13 more
doaj +1 more source
Dopa-Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions. [PDF]
Movement disorders : official journal of the Movement Disorder Society, 2020 n ...
Sullivan R. +7 more
openaire +5 more sources
Molecular epidemiology of hereditary ataxia in Finland
BMC Neurology, 2021 Background The genetics of cerebellar ataxia is complex. Hundreds of causative genes have been identified, but only a few cause more than single cases. The spectrum of ataxia-causing genes differs considerably between populations.
Joonas Lipponen +11 more
doaj +1 more source
Motor, Extrapyramidal, and Cognitive Involvement in RFC1 Disease: A Systematic Review and Meta-Analysis. [PDF]
Neurol GenetBiallelic intronic repeat expansions in the replication factor C subunit 1 (RFC1) gene are a common cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome and other late-onset ataxias. Recent evidence suggests a broader phenotypic spectrum.
Massucco S +14 more
europepmc +3 more sources
Frontiers in Cell and Developmental Biology, 2022 The neural plate border (NPB) of vertebrate embryos segregates from the neural and epidermal regions, and it is comprised of an intermingled group of multipotent progenitor cells. Folate is the precursor of S-adenosylmethionine, the main methyl donor for
Nagif Alata Jimenez +1 more
doaj +1 more source
The Characteristic Eye Movement Disorder of RFC1 ‐Linked CANVAS [PDF]
Movement Disorders Clinical Practice, 2020 View Supplementary Video 1 View Supplementary Video 2 View Supplementary Video 3
Terryn, Joke +3 more
openaire +3 more sources
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome [PDF]
, 2022 OBJECTIVES: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) results from biallelic intronic pentanucleotide repeats in RFC1.
Paul, Alexander J. +12 more
core +1 more source
Head impulse testing in bilateral vestibulopathy in patients with genetically defined CANVAS
Brain and Behavior, 2022 Background To investigate the association between disease duration and the severity of bilateral vestibulopathy in individuals with complete or incomplete CANVAS (Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome) and biallelic RFC1 ...
Max Borsche +5 more
doaj +1 more source
Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions
Biomolecules, 2023 A recessive Short Tandem Repeat expansion in RFC1 has been found to be associated with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS), and to be a frequent cause of late onset ataxia and sensory neuropathy.
Stefano Facchini +19 more
doaj +1 more source
Cramps as the initial presentation of CANVAS/RFC1-related disorder. [PDF]
J Neuromuscul DisBiallelic mutations in the RFC1 gene are associated with CANVAS syndrome (cerebellar ataxia, neuropathy and vestibular areflexia). Peripheral nerve involvement in the form of sensory neuronopathy and small fiber autonomic axonopathy is a core feature of its presentation. Motor manifestations,
Machado J +7 more
europepmc +2 more sources