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

dc.contributor.author	Wilke, Carlo
dc.contributor.author	Synofzik, Matthis
dc.contributor.author	Traschütz, Andreas
dc.date.accessioned	2025-03-31T08:09:58Z
dc.date.available	2025-03-31T08:09:58Z
dc.date.issued	2024
dc.identifier.issn	2352-3964
dc.identifier.uri	http://hdl.handle.net/10900/163417
dc.language.iso	en	de_DE
dc.publisher	Amsterdam : Elsevier	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ebiom.2024.105076	de_DE
dc.subject.ddc	610	de_DE
dc.title	GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort	de_DE
dc.type	Article	de_DE
utue.quellen.id	20241001000000_02285
utue.personen.roh	Pellerin, David
utue.personen.roh	Heindl, Felix
utue.personen.roh	Wilke, Carlo
utue.personen.roh	Danzi, Matt C.
utue.personen.roh	Traschuetz, Andreas
utue.personen.roh	Ashton, Catherine
utue.personen.roh	Dicaire, Marie-Josee
utue.personen.roh	Cuillerier, Alexanne
utue.personen.roh	Del Gobbo, Giulia
utue.personen.roh	Boycott, Kym M.
utue.personen.roh	Claassen, Jens
utue.personen.roh	Rujescu, Dan
utue.personen.roh	Hartmann, Annette M.
utue.personen.roh	Zuchner, Stephan
utue.personen.roh	Brais, Bernard
utue.personen.roh	Strupp, Michael
utue.personen.roh	Synofzik, Matthis
dcterms.isPartOf.ZSTitelID	Ebiomedicine	de_DE
dcterms.isPartOf.ZS-Issue	Article 105076	de_DE
dcterms.isPartOf.ZS-Volume	102	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE