Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

Currò, R., Dominik, N., Facchini, S. et al. (155 more authors) (2024) Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease. Brain, 147 (5). pp. 1887-1898. ISSN 0006-8950

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Item Type: Article
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© The Author(s) 2024. Published by Oxford University Press on behalf of the Guarantors of Brain. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

Keywords: CANVAS; RFC1; ataxia; neuropathy; repeat expansions; southern blotting; Humans; Male; Female; Replication Protein C; Age of Onset; Adult; DNA Repeat Expansion; Middle Aged; Young Adult; Adolescent; Child; Phenotype; Severity of Illness Index; Child, Preschool; Disease Progression
Dates:
  • Published: May 2024
  • Published (online): 9 January 2024
  • Accepted: 10 December 2023
  • Submitted: 6 October 2023
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Medicine and Population Health
Depositing User: Symplectic Sheffield
Date Deposited: 04 Sep 2024 11:29
Last Modified: 04 Sep 2024 11:29
Status: Published
Publisher: Oxford University Press (OUP)
Refereed: Yes
Identification Number: 10.1093/brain/awad436
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Open Archives Initiative ID (OAI ID):

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