RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia-Reference-Cited by-同舟云学术

RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia

Published:2020-07-21 Issue:12 Volume:65 Page:1143-1147
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Tsuchiya Mai,Nan Haitian,Koh Kishin,Ichinose Yuta,Gao Lihua,Shimozono Keisuke,Hata Takanori,Kim Yeon-Jeong^ORCID,Ohtsuka Toshihisa,Cortese Andrea,Takiyama Yoshihisa

Funder

Ministry of Health, Labour and Welfare

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s10038-020-0807-x.pdf

Reference10 articles.

1. Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yan YW, et al. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet. 2019;51:649–58.

2. Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, et al. Bioinformatics-based identification of expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS. Am J Hum Genet. 2019;105:151–65.

3. Akcimen F, Ross JP, Bourassa CV, Liao C, Rochefort D, Theraza M, et al. Investigation of the RFC1 repeat expansion in a Canadian and a Brazilian Ataxia Cohort: identification of novel conformations. Front Genet. 2019;10:1219.

4. Nakamura H, Doi H, Mitsuhashi S, Miyatake S, Katoh K, Frith MC, et al. Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS. J Hum Genet. 2020;65:475–80.

5. Taki M, Nakamura H, Matsuura T, Hasegawa T, Sakaguchi H, Morita K, et al. Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). Auris Nasus Larynx. 2018;45:866–70.

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