Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS)

(2018) Masakatsu Taki et al.   AURIS NASUS LARYNX

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

(2018) Tatsiana Aneichyk et al.   CELL

Peripheral nerves are pathologically small in cerebellar ataxia neuropathy vestibular areflexia syndrome: a controlled ultrasound study

(2018) L. Pelosi et al.   EUROPEAN JOURNAL OF NEUROLOGY

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres

(2018) Jon Infante et al.   JOURNAL OF NEUROLOGY

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

(2018) Hiroyuki Ishiura et al.   NATURE GENETICS

Intron retention induced by microsatellite expansions as a disease biomarker

(2018) Łukasz J. Sznajder et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work

(2017) O. Gebus et al.   JOURNAL OF NEUROLOGY

VEMPs in a patient with cerebellar ataxia, neuropathy and vestibular areflexia (CANVAS)

(2017) Heiko Rust et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Mutations inMMEcause an autosomal-recessive Charcot-Marie-Tooth disease type 2

(2016) Yujiro Higuchi et al.   ANNALS OF NEUROLOGY

MultiQC: summarize analysis results for multiple tools and samples in a single report

(2016) Philip Ewels et al.   BIOINFORMATICS

Peripheral nerve ultrasound in cerebellar ataxia neuropathy vestibular areflexia syndrome (CANVAS)

(2016) Luciana Pelosi et al.   MUSCLE & NERVE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease

(2016) Aaron R. Haeusler et al.   NATURE REVIEWS NEUROSCIENCE

g:Profiler—a web server for functional interpretation of gene lists (2016 update)

(2016) Jüri Reimand et al.   NUCLEIC ACIDS RESEARCH

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome: a slowly progressive disorder with stereotypical presentation

(2015) Daniele Cazzato et al.   JOURNAL OF NEUROLOGY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

HTSeq--a Python framework to work with high-throughput sequencing data

(2014) S. Anders et al.   BIOINFORMATICS

Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndrome

(2014) T. Y. Wu et al.   BRAIN

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

(2014) V Fridman et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS

(2014) D. J. Szmulewicz et al.   NEUROLOGY

RBPmap: a web server for mapping binding sites of RNA-binding proteins

(2014) Inbal Paz et al.   NUCLEIC ACIDS RESEARCH

PCR amplification of repetitive DNA: a limitation to genome editing technologies and many other applications

(2014) Carl Maximilian Hommelsheim et al.   Scientific Reports

LUMPY: a probabilistic framework for structural variant discovery

(2014) Ryan M Layer et al.   GENOME BIOLOGY

Maintaining genome stability in the nervous system

(2013) Peter J McKinnon   NATURE NEUROSCIENCE

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Detecting differential usage of exons from RNA-seq data

(2012) S. Anders et al.   GENOME RESEARCH

Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

(2012) Sinead M Murphy et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Clinical, electrophysiological, and MRI findings in patients with cerebellar ataxia and a bilaterally pathological head-impulse test

(2011) Hanni Kirchner et al.   Annals of the New York Academy of Sciences

Processing of nerve biopsies: A practical guide for neuropathologists

(2011) Joachim Weis et al.   CLINICAL NEUROPATHOLOGY

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome

(2011) David J. Szmulewicz et al.   OTOLOGY & NEUROTOLOGY

Alu elements: know the SINEs

(2011) Prescott Deininger   GENOME BIOLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Replication Factor C Recruits DNA Polymerase   to Sites of Nucleotide Excision Repair but Is Not Required for PCNA Recruitment

(2010) R. M. Overmeer et al.   MOLECULAR AND CELLULAR BIOLOGY

Repeat expansion disease: progress and puzzles in disease pathogenesis

(2010) Albert R. La Spada et al.   NATURE REVIEWS GENETICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

DNA Damage-induced Ubiquitylation of RFC2 Subunit of Replication Factor C Complex

(2008) Junya Tomida et al.   JOURNAL OF BIOLOGICAL CHEMISTRY