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

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

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

Autor(en):

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

Tübinger Autor(en):

Wilke, Carlo
Synofzik, Matthis
Traschütz, Andreas

Erschienen in:

Ebiomedicine (2024), Bd. 102, Article 105076

Verlagsangabe:

Amsterdam : Elsevier

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1016/j.ebiom.2024.105076

ISSN:

2352-3964