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

No abstract is available for this paper.

• Publication year

  2019

• Venue

  Nature Genetics

• Publication date

  2019-03-29

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/s41588-019-0372-4PMID 30926972PMCID PMC6709527
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Sequence Analysis

  2020cited by this paper
• Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.

  2018cited by this paper
• Intron retention induced by microsatellite expansions as a disease biomarker

  2018cited by this paper
• Peripheral nerves are pathologically small in cerebellar ataxia neuropathy vestibular areflexia syndrome: a controlled ultrasound study

  2018cited by this paper
• Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

  2018cited by this paper
• Repeat expansion diseases.

  2018cited by this paper
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  2018cited by this paper
• Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work

  2017cited by this paper
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  2017cited by this paper
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  2017cited by this paper
• Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS).

  2017cited by this paper
• VEMPs in a patient with cerebellar ataxia, neuropathy and vestibular areflexia (CANVAS).

  2017cited by this paper
• Peripheral nerve ultrasound in cerebellar ataxia neuropathy vestibular areflexia syndrome (CANVAS)

  2017cited by this paper
• Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

  2017cited by this paper
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  2016cited by this paper
• Proposed diagnostic criteria for cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS)

  2016cited by this paper
• Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome: a slowly progressive disorder with stereotypical presentation

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• Mutations in MME cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2

  2016cited by this paper
• MultiQC: summarize analysis results for multiple tools and samples in a single report

  2016cited by this paper
• g:Profiler—a web server for functional interpretation of gene lists (2016 update)

  2016cited by this paper
• Bilateral vestibulopathy.

  2016cited by this paper
• Frataxin levels in peripheral tissue in Friedreich ataxia

  2015cited by this paper
• Analysis of protein-coding genetic variation in 60,706 humans

  2015cited by this paper
• A global reference for human genetic variation

  2015cited by this paper
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  2014cited by this paper
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  2014cited by this paper
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  2007cited by this paper
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  2005cited by this paper
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  2004cited by this paper
• Cerebellar ataxia with bilateral vestibulopathy: description of a syndrome and its characteristic clinical sign.

  2004cited by this paper
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  2004cited by this paper
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  2004cited by this paper
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• Rfam: an RNA family database

  2003cited by this paper
• The aetiology of sporadic adult-onset ataxia.

  2002cited by this paper
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  2002cited by this paper
• Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

  1996cited by this paper
• Clinical and genetic abnormalities in patients with Friedreich's ataxia.

  1996cited by this paper
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  1996cited by this paper
• CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

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  1993cited by this paper
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  1993cited by this paper
• Connexin mutations in X-linked Charcot-Marie-Tooth disease.

  1993cited by this paper
• DNA duplication associated with Charcot-Marie-Tooth disease type 1A.

  1991cited by this paper
• "Idiopathic" late onset cerebellar ataxia. A clinical and genetic study of 36 cases.

  1981cited by this paper
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