GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak

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 to defects in cell-surface channels or nutrient transporters. In this study, we...

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Hauptverfasser: Weber, Yvonne G., Storch, Alexander, Wuttke, Thomas V., Brockmann, Knut, Kempfle, Judith, Maljevic, Snezana, Margari, Lucia, Kamm, Christoph, Schneider, Susanne A., Huber, Stephan M., Pekrun, Arnulf, Roebling, Robert, Seebohm, Guiscard, Koka, Saisudha, Lang, Camelia, Kraft, Eduard, Blazevic, Dragica, Salvo-Vargas, Alberto, Fauler, Michael, Mottaghy, Felix M., Münchau, Alexander, Edwards, Mark J., Presicci, Anna, Margari, Francesco, Gasser, Thomas, Lang, Florian, Bhatia, Kailash P., Lehmann-Horn, Frank, Lerche, Holger
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Clinical Investigation 2008
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2350432/
https://ncbi.nlm.nih.gov/pubmed/18451999
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI34438
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