An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14. - Rafehi H; Read J; Szmulewicz DJ; Davies KC; Snell P; Fearnley LG; Scott L; Thomsen M; Gillies G; Pope K; Bennett MF; Munro JE; et al. (American journal of human genetics, 2023)