No biallelic intronic AAGGG repeat expansion in RFC1 was found in patients with late-onset ataxia and MSA-Reference-Cited by-同舟云学术

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No biallelic intronic AAGGG repeat expansion in RFC1 was found in patients with late-onset ataxia and MSA

Published:2020-04 Issue: Volume:73 Page:1-2
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Fan Yu,Zhang Shuo,Yang Jing,Mao Cheng-yuan,Yang Zhi-hua,Hu Zheng-wei,Wang Yan-lin,Liu Yu-tao,Liu Han,Yuan Yan-peng,Shi Chang-he,Xu Yu-ming

Funder

National Natural Science Foundation of China

National Key R&D Program of China

Publisher

Elsevier BV

Subject

Neurology (clinical),Geriatrics and Gerontology,Neurology

Reference4 articles.

1. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia;Cortese;Nat. Genet.,2019

2. Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndrome;Wu;Brain : J. Neurol.,2014

3. Sporadic ataxia with adult onset: classification and diagnostic criteria, the Lancet;Klockgether;Neurology,2010

4. Second consensus statement on the diagnosis of multiple system atrophy;Gilman;Neurology,2008

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1. Pseudodominance in RFC1-Spectrum Disorder;The Cerebellum;2024-09-04

2. RFC1: Motifs and phenotypes;Revue Neurologique;2024-05

3. RFC1repeat expansion analysis from whole genome sequencing data simplifies screening and increases diagnostic rates;2024-02-29

4. Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease;Brain;2024-01-09

5. Characterization and visualization of tandem repeats at genome scale;Nature Biotechnology;2024-01-02

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