An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14 - Rafehi, Haloom; Read, Justin; Szmulewicz, David J; Davies, Kayli C; Snell, Penny; Fearnley, Liam G; Scott, Liam; Thomsen, Mirja; Gillies, Greta; Pope, Kate; Bennett, Mark F; Munro, Jacob E; et al. (American journal of human genetics, 2023)
Keywords: Adult; Ataxia - genetics; Australia; Cerebellar Ataxia - genetics; Fibroblast Growth Factors; Friedreich Ataxia - genetics; Humans; Trinucleotide Repeat Expansion - genetics; Australia; cerebellar ataxia; repeat expansions; ataxia; bilateral vestibulopathy; short tandem repeats; whole-genome sequencing