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

Autor: Pellerin, David, Heindl, Felix, Wilke, Carlo, Danzi, Matt C., Traschütz, Andreas, Ashton, Catherine, Dicaire, Marie-Josée, Cuillerier, Alexanne, Del Gobbo, Giulia, Boycott, Kym M., Claassen, Jens, Rujescu, Dan, Hartmann, Annette M., Zuchner, Stephan, Brais, Bernard, Strupp, Michael, Synofzik, Matthis
Zdroj: In eBioMedicine April 2024 102
Databáze: ScienceDirect