Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy
内含子FGF14 GAA重复序列扩增是导致伴有神经病变和双侧前庭病变的共济失调综合征的常见原因。
期刊:Journal of Neurology Neurosurgery and Psychiatry
影响因子:7.5
doi:10.1136/jnnp-2023-331490
Pellerin, David; Wilke, Carlo; Traschütz, Andreas; Nagy, Sara; Currò, Riccardo; Dicaire, Marie-Josée; Garcia-Moreno, Hector; Anheim, Mathieu; Wirth, Thomas; Faber, Jennifer; Timmann, Dagmar; Depienne, Christel; Rujescu, Dan; Gazulla, José; Reilly, Mary M; Giunti, Paola; Brais, Bernard; Houlden, Henry; Schöls, Ludger; Strupp, Michael; Cortese, Andrea; Synofzik, Matthis