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

Journal of Clinical Investigation - Tập 118 Số 6 - Trang 2157-2168 - 2008
Yvonne G. Weber1, Alexander Storch, Thomas V. Wuttke, Knut Brockmann, Judith Kempfle, Snezana Maljevic, Lucia Margari, Christoph Kamm, Susanne A. Schneider, Stephan M. Huber, Arnulf Pekrun, Robert Roebling, Guiscard Seebohm, Saisudha Koka, Camelia Lang, Eduard Kraft, Dragica Blazevic, Alberto Salvo‐Vargas, Michael Fauler, Felix M. Mottaghy, Alexander Münchau, Mark J. Edwards, Anna Presicci, Francesco Margari, Thomas Gasser, Florian Läng, Kailash P. Bhatia, Frank Lehmann‐Horn, Holger Lerche
1Neurologische Klinik and Institut für Anatomie und Zellbiologie, Universität Ulm, Ulm, Germany.

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10.1055/s-2001-13121

10.1006/geno.1996.0013

10.1086/514877

10.1002/1531-8249(199903)45:3<344::AID-ANA10>3.0.CO;2-9

10.1002/mds.870090502

10.1001/archneur.61.7.1025

10.1093/hmg/ddh330

10.2174/1381612054546815

10.1146/annurev.neuro.29.051605.112815

10.1038/ng1585

10.1111/j.0013-9580.2004.48203.x

De Vivo, 1991, N. Engl. J. Med., 325, 703, 10.1056/NEJM199109053251006

10.1038/ng0298-188

10.1002/ana.20331

10.1002/ana.1222

10.1023/A:1025999914822

10.1002/mds.20660

10.1007/s00415-005-0616-3

Brown, 1992, Biochem. J., 284, 1, 10.1042/bj2840001

Kraft, 2002, Neurology., 59, 1265, 10.1212/01.WNL.0000032757.66992.3C

10.1080/09687680110072140

10.1529/biophysj.104.047886

10.1159/000086406

10.1007/s100720070092

10.1002/mds.21350

10.1136/jnnp.68.5.609

10.1093/brain/awh262

10.1002/mds.10236

Maher, 1994, FASEB J., 8, 1003, 10.1096/fasebj.8.13.7926364

10.1074/jbc.M310786200

10.1074/jbc.274.51.36176

Pulsinelli, 1985, Prog. Brain Res., 63, 29, 10.1016/S0079-6123(08)61973-1

10.1001/archneur.64.1.20

Danek, 2005, Curr. Opin. Neurol., 18, 386, 10.1097/01.wco.0000173464.01888.e9

10.1038/ng1656

10.1182/blood-2006-12-063420

Feinberg, 1991, Neurology., 41, 1000, 10.1212/WNL.41.7.1000

Redman, 1989, Blood., 74, 1826, 10.1182/blood.V74.5.1826.1826

Brecher, 1972, Blood., 40, 333, 10.1182/blood.V40.3.333.333

Barry, 1991, J. Membr. Biol., 121, 101, 10.1007/BF01870526