Related references
Note: Only part of the references are listed.Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): genetic and clinical aspects
Andrea Cortese et al.
PRACTICAL NEUROLOGY (2022)
Motor neuron pathology in CANVAS due to RFC1 expansions
Vincent Huin et al.
BRAIN (2022)
Multisystemic neurodegeneration caused by biallelic pentanucleotide expansions in RFC1
Laura Herrmann et al.
PARKINSONISM & RELATED DISORDERS (2022)
Cell environment shapes TDP-43 function with implications in neuronal and muscle disease
Ursa Susnjar et al.
COMMUNICATIONS BIOLOGY (2022)
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease
Andreas Traschutz et al.
NEUROLOGY (2021)
Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis
Yevgenya Abramzon et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2021)
Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort
Solveig Montaut et al.
JOURNAL OF NEUROLOGY (2021)
RFC1-related ataxia is a mimic of early multiple system atrophy
Roisin Sullivan et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2021)
RFC1 expansions are a common cause of idiopathic sensory neuropathy
Riccardo Curro et al.
BRAIN (2021)
RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy
Matteo Tagliapietra et al.
JOURNAL OF NEUROLOGY (2021)
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFCI repeat expansion
Andrea Cortese et al.
BRAIN (2020)
RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy
Roisin Sullivan et al.
MOVEMENT DISORDERS (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort
Dona Aboud Syriani et al.
NEUROLOGY-GENETICS (2020)
Diagnostic yield of testing for RFC1 repeat expansions in patients with unexplained adult-onset cerebellar ataxia
Sien Hilde Van Daele et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2020)
RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjogren syndrome
Kishore R. Kumar et al.
BRAIN (2020)
A Maori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele
Sarah J. Beecroft et al.
BRAIN (2020)
Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes
Maria Gisatulin et al.
NEUROLOGY (2020)
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families
Carolin K. Scriba et al.
BRAIN (2020)
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Andrea Cortese et al.
NATURE GENETICS (2019)
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS
Andre B. P. van Kuilenburg et al.
NEW ENGLAND JOURNAL OF MEDICINE (2019)
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
Haloom Rafehi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome
Amy J. Lacroix et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Systematic analysis of protein turnover in primary cells
Toby Mathieson et al.
NATURE COMMUNICATIONS (2018)
UMI-tools: modeling sequencing errors in Unique Molecular Identifiers to improve quantification accuracy
Tom Smith et al.
GENOME RESEARCH (2017)
Friedreich's ataxia: clinical features, pathogenesis and management
A. Cook et al.
BRITISH MEDICAL BULLETIN (2017)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Proposed diagnostic criteria for cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS)
David J. Szmulewicz et al.
NEUROLOGY-CLINICAL PRACTICE (2016)
The Ensembl Variant Effect Predictor
William McLaren et al.
GENOME BIOLOGY (2016)
A global reference for human genetic variation
David M. Altshuler et al.
NATURE (2015)
featureCounts: an efficient general purpose program for assigning sequence reads to genomic features
Yang Liao et al.
BIOINFORMATICS (2014)
The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data
Gautier Koscielny et al.
NUCLEIC ACIDS RESEARCH (2014)
STAR: ultrafast universal RNA-seq aligner
Alexander Dobin et al.
BIOINFORMATICS (2013)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)