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

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

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