RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile

Summary

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Authors: David Pellerin, Felix Heindl, Andreas Traschütz, Dan Rujescu, Annette M. Hartmann, Bernard Brais, Henry Houlden, Claudia Dufke, Olaf Riess, Tobias Haack, Michael Strupp and Matthis Synofzik

Journal title: Journal of Neurology

Journal number: Volume 271

Journal publisher: Dr. Dietrich Steinkopff Verlag

Published year: 2024

Published pages: 2886–2892

DOI identifier: 10.1007/s00415-024-12229-z

ISSN: 0340-5354