Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations-Reference-Cited by-同舟云学术

Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations

Published:2019-11-22 Issue: Volume:10 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Akçimen Fulya,Ross Jay P.,Bourassa Cynthia V.,Liao Calwing,Rochefort Daniel,Gama Maria Thereza Drumond,Dicaire Marie-Josée,Barsottini Orlando G.,Brais Bernard,Pedroso José Luiz,Dion Patrick A.,Rouleau Guy A.

Publisher

Frontiers Media SA

Subject

Genetics(clinical),Genetics,Molecular Medicine

Reference11 articles.

1. Investigation of the pathogenic RFC1 repeat expansion in a Canadian and a Brazilian ataxia cohort: identification of novel conformations;Akçimen,2019

2. Large interruptions of GAA repeat expansion mutations in Friedreich Ataxia are very rare;Al-Mahdawi;Front. Cell. Neurosci.,2018

3. Expansion of a recessive intronic AAGGG repeat in the RFC1 gene is a common cause of late-onset ataxia;Cortese;Nat. Genet.,2019

4. Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population;Dupré;Can. J. Neurol. Sci.,2006

5. Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution;Loureiro;Hum. Mutat.,2019

Cited by 49 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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

2. Cranial Nerve Thinning Distinguishes RFC1‐Related Disorder from Other Late‐Onset Ataxias;Movement Disorders Clinical Practice;2023-11-29

3. Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort;neurogenetics;2023-11-02

4. Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease;2023-10-15

5. Pathogenic CANVAS-causing but not nonpathogenic RFC1 DNA/RNA repeat motifs form quadruplex or triplex structures;Journal of Biological Chemistry;2023-10