%0 Journal Article
%A Pellerin, David
%A Danzi, Matt C
%A Renaud, Mathilde
%A Houlden, Henry
%A Synofzik, Matthis
%A Zuchner, Stephan
%A Brais, Bernard
%T Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia.
%J Clinical and translational medicine
%V 14
%N 1
%@ 2001-1326
%C Hoboken, NJ
%I Wiley
%M DZNE-2024-00107
%P e1504
%D 2024
%X Hereditary ataxias, especially when presenting sporadically in adulthood, present a particular diagnostic challenge owing to their great clinical and genetic heterogeneity. Currently, up to 75
%K Adult
%K Humans
%K Spinocerebellar Ataxias: diagnosis
%K Spinocerebellar Ataxias: drug therapy
%K Spinocerebellar Ataxias: genetics
%K Ataxia: complications
%K Phenotype
%K 4-aminopyridine (Other)
%K FGF14 (Other)
%K GAA-FGF14 ataxia (Other)
%K cerebellar ataxia (Other)
%K genetics (Other)
%K repeat expansion disorder (Other)
%K therapy (Other)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:38279833
%2 pmc:PMC10819088
%R 10.1002/ctm2.1504
%U https://pub.dzne.de/record/267343