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  • GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak
    [作者:Weber, YG; Storch, A; Wuttke, TV; Brockmann, K; Kempfle, J; Maljevic, S; Margari, L; Kamm, C; Schneider, SA; Huber, SM; Pekrun, A; Roebling, R; Seebohm, G; Koka, S; Lang, C; Kraft, E; Blazevic, D; Salvo-Vargas, A; Fauler, M; Mottaghy, FM; Munchau, A; Edwards, MJ; Presicci, A; Margari, F; Gasser, T; Lang, F; Bhatia, KP; Lehmann-Horn, F; Lerche, H,期刊:Journal of clinical investigation, 页码:2157-2168 , 文章类型: Article,,卷期:2008年118-6]
  • Paroxysmal dyskinesias are episodic movement disorders that can be inherited or are sporadic in nature. The pathophysiology underlying these disorders remains largely unknown but may involve disrupted ion homeostasis due...
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