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Diagnostic yield of testing for RFC1 repeat expansions in patients with unexplained adult-onset cerebellar ataxia

https://doi.org/10.1136/jnnp-2020-323998

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    Footnotes

    • Contributors Study concept and design: WV. Acquisition of data: SHVD, LL, WV and AVE. Analysis and interpretation of data: SHVD, SV, AVE and WV. Drafting the manuscript: SHVD and SV. Critical revision of the manuscript for important intellectual content: AVE, LL, VR, PvD, KC and WV.

    • Funding SHVD is funded by a PhD fellowship of the Research Foundation-Flanders (FWO) (1164018N,file number 40900). PvD and WV are Senior Clinical investigators of FWO. PvD is supportedby the ALS Liga België and the KU Leuven funds '“Een Hart voor ALS', 'Laeversfonds voorALS Onderzoek' and the 'Valéry Perrier Race against ALS Fund'.

    • Competing interests None declared.

    • Patient consent for publication Not required.

    • Ethics approval The study was approved by the institutional Ethics Committee (approval number: S61184).

    • Provenance and peer review Not commissioned; externally peer reviewed.