Zobrazeno 1 - 3
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pro vyhledávání: '"Ines Steinich"'
Publikováno v:
Journal of Stroke and Cerebrovascular Diseases. 23:361-366
Background Thrombolysis is the most successful therapy in acute ischemic stroke. Limitations comprise strict eligibility criteria including many contraindications for thrombolysis, and in particular clinical situations lack of evidence-based data res
Autor:
Renzo Guerrini, Thomas Sander, Samuel F. Berkovic, Sarah von Spiczak, Holger Tönnies, Simone Heidemann, Ulrich Stephani, Peter De Jonghe, Reiner Siebert, Yvonne G. Weber, Arvid Suls, Ingrid E. Scheffer, Ines Steinich, Michael Wittig, Hiltrud Muhle, Ingo Helbig, Carla Marini, Holger Lerche, Andre Franke
Publikováno v:
Epilepsia. 51:2453-2456
Early onset absence epilepsy (EOAE) starting before the age of 4 years constitutes a rare subgroup of the idiopathic generalized epilepsies (IGEs). A strong genetic component in IGE has been suggested by twin and family studies. We describe a boy wit
Autor:
Heather C Mefford, Pierre Thomas, Bobby P. C. Koeleman, Fritz Zimprich, Peter Nürnberg, Philipp S. Reif, Carolien G.F. de Kovel, Michael Wittig, Yvonne G. Weber, Ines Steinich, Pierre Genton, Carl Baker, Helle Hjalgrim, Gerrit-Jan de Haan, Ingo Helbig, Alain Malafosse, Thomas Sander, Michel Guipponi, Ulrich Stephani, Daniela Luciano, Costin Leu, Verena Gaus, Stefan Schreiber, Bettina Schmitz, Corrado Romano, Christian E. Elger, Frank Visscher, Hiltrud Muhle, Katherine L. Kron, Andre Franke, Evan E. Eichler, Holger Lerche, Andrew J. Sharp, Lydia Urak, Ailing A. Kleefuß-Lie, Rikke S. Møller, Martha Feucht, Karl Martin Klein, Michael Nothnagel, Karoline Fuchs, Marco Fichera, Sarah von Spiczak, Felix Rosenow, Dick Lindhout
Publikováno v:
Helbig, I, Mefford, H C, Sharp, A J, Guipponi, M, Fichera, M, Franke, A, Muhle, H, de Kovel, C, Baker, C, von Spiczak, S, Kron, K L, Steinich, I, Kleefuss-Lie, A A, Leu, C, Gaus, V, Schmitz, B, Klein, K M, Reif, P S, Rosenow, F, Weber, Y, Lerche, H, Zimprich, F, Urak, L, Fuchs, K, Feucht, M, Genton, P, Thomas, P, Visscher, F, de Haan, G-J, Møller, R S, Hjalgrim, H, Luciano, D, Wittig, M, Nothnagel, M, Elger, C E, Nürnberg, P, Romano, C, Malafosse, A, Koeleman, B P C, Lindhout, D, Stephani, U, Schreiber, S, Eichler, E E & Sander, T 2009, ' 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy ', Nature Genetics, vol. 41, pp. 160-162 . https://doi.org/10.1038/ng.292
Nature Genetics, Vol. 41, No 2 (2009) pp. 160-162
Nature Genetics, Vol. 41, No 2 (2009) pp. 160-162
We identified 15q13.3 microdeletions encompassing the CHRNA7 gene in 12 of 1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in 3,699 controls (joint P = 5.32 x 10(-8)). Most deletion carriers showed common IGE syn