GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort

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Authors: David Pellerin, Felix Heindl, Carlo Wilke, Matt C. Danzi, Andreas Traschütz, Catherine Ashton, Marie-Josée Dicaire, Alexanne Cuillerier, Giulia Del Gobbo, Kym M. Boycott, Jens Claassen, Dan Rujescu, Annette M. Hartmann, Stephan Zuchner, Bernard Brais, Michael Strupp, Matthis Synofzik

Journal title: eBioMedicine

Journal number: Volume 102

Journal publisher: Elsevier BV

Published year: 2024

DOI identifier: 10.1016/j.ebiom.2024.105076

ISSN: 2352-3964