Search Results - "Rebstock, Johannes"

The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals by Zacher, Pia, Mayer, Thomas, Brandhoff, Frank, Bartolomaeus, Tobias, Le Duc, Diana, Finzel, Martin, Heinze, Anja, Horn, Susanne, Klöckner, Chiara, Körber, Gudrun, Hentschel, Julia, Kalita, Malgorzata, Krey, Ilona, Nastainczyk-Wulf, Marina, Platzer, Konrad, Rebstock, Johannes, Popp, Bernt, Stiller, Mathias, Teichmann, Anne-Christin, Jamra, Rami Abou, Lemke, Johannes R.

“…Genetic diagnostics of neurodevelopmental disorders with epilepsy (NDDE) are predominantly applied in children, thus limited information is available regarding…”
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CLCN2 variants in idiopathic generalized epilepsy by Propping, Peter, Fahlke, Christoph, Friedl, Waltraut, Schulz, Herbert, Alekov, Alexi, Lerche, Holger, Sander, Thomas, Kleefuß-Lie, Ailing, Maljevic, Snezana, Rebstock, Johannes, Ramirez, Alfredo, Cichon, Sven, Horvath, Steve, Rau, Birgit, Dullinger, Jörn S, Haverkamp, Fritz, Giese, Bernd, Elger, Christian E, Warnstedt, Maike, Beyenburg, Stefan, Hallmann, Kerstin, Hebeisen, Simon, Poser, Barbara, Kubisch, Christian, Haug, Karsten, Janz, Dieter, Müller-Newen, Gerhard

“…According to the reports of relatives, the affected boy's great-grandfather had suffered from epileptic seizures, though further details are not available…”
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Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies by Alekov, Alexi K, Rau, Birgit, Hebeisen, Simon, Propping, Peter, Haverkamp, Fritz, Janz, Dieter, Fahlke, Christoph, Maljevic, Snezana, Beyenburg, Stefan, Haug, Karsten, Dullinger, Joern S, Kubisch, Christian, Lerche, Holger, Elger, Christian E, Ramírez, Alfredo, Horvath, Steve, Müller-Newen, Gerhard, Rebstock, Johannes, Heils, Armin, Warnstedt, Maike, Hallmann, Kerstin, Poser, Barbara, Giese, Bernd, Sander, Thomas, Schulz, Herbert

“…Idiopathic generalized epilepsy (IGE) is an inherited neurological disorder affecting about 0.4% of the world's population. Mutations in ten genes causing…”
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Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies by Haug, Karsten, Warnstedt, Maike, Alekov, Alexi K, Sander, Thomas, Ramirez, Alfredo, Poser, Barbara, Maljevic, Snezana, Hebeisen, Simon, Kubisch, Christian, Rebstock, Johannes, Horvath, Steve, Hallmann, Kerstin, Dullinger, Joern S, Rau, Birgit, Haverkamp, Fritz, Beyenburg, Stefan, Schulz, Herbert, Janz, Dieter, Giese, Bernd, Miiller-Newen, Gerhard, Propping, Peter, Elger, Christian E, Fahlke, Christoph, Lerche, Holger, Heils, Armin

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Endothelin System-Dependent Cardiac Remodeling in Renovascular Hypertension by Hocher, Berthold, George, Ines, Rebstock, Johannes, Bauch, Alexandra, Schwarz, Anja, Neumayer, Hans-H, Bauer, Christian

“…The aim of the present study was to analyze whether the cardiac endothelin system contributes to cardiac remodeling in rats with 2-kidney, 1 clip (2K1C)…”
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Retraction: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies by Haug, Karsten, Warnstedt, Maike, Alekov, Alexi K, Sander, Thomas, Ramírez, Alfredo, Poser, Barbara, Maljevic, Snezana, Hebeisen, Simon, Kubisch, Christian, Rebstock, Johannes, Horvath, Steve, Hallmann, Kerstin, Dullinger, Joern S, Rau, Birgit, Haverkamp, Fritz, Beyenburg, Stefan, Schulz, Herbert, Janz, Dieter, Giese, Bernd, Müller-Newen, Gerhard, Propping, Peter, Elger, Christian E, Fahlke, Christoph, Lerche, Holger, Heils, Armin

“…Genet. 33, 527-532 (2003); published online 3 March 2003 Re-examination of the families and the molecular genetic data by a neurologist and a geneticist who…”
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Retraction Note: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies by Haug, Karsten, Warnstedt, Maike, Alekov, Alexi K, Sander, Thomas, Ramírez, Alfredo, Poser, Barbara, Maljevic, Snezana, Hebeisen, Simon, Kubisch, Christian, Rebstock, Johannes, Horvath, Steve, Hallmann, Kerstin, Dullinger, Joern S, Rau, Birgit, Haverkamp, Fritz, Beyenburg, Stefan, Schulz, Herbert, Janz, Dieter, Giese, Bernd, Müller-Newen, Gerhard, Propping, Peter, Elger, Christian E, Fahlke, Christoph, Lerche, Holger, Heils, Armin

“…Re-examination of the families and the molecular genetic data by a neurologist and a geneticist who were not involved in the original study has revealed major…”
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Metabolic consequences of a novel missense mutation of the mtDNA CO I gene by Varlamov, Dmitry A., Kudin, Alexei P., Vielhaber, Stefan, Schröder, Rolf, Sassen, Robert, Becker, Albert, Kunz, Dagmar, Haug, Karsten, Rebstock, Johannes, Heils, Armin, Elger, Christian E., Kunz, Wolfram S.

“…We have identified a novel heteroplasmic C6489A missense mutation in the mitochondrial DNA (mtDNA) CO I gene encoding the cytochrome c oxidase (COX) subunit I…”
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Interleukin-1β gene polymorphism and susceptibility to temporal lobe epilepsy with hippocampal sclerosis by Heils, Armin, Haug, Karsten, Kunz, Wolfram S., Fernandez, Guillen, Horvath, Steve, Rebstock, Johannes, Propping, Peter, Elger, Christian Erich

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Prodynorphin gene promoter polymorphism and temporal lobe epilepsy by Tilgen, Nikola, Rebstock, Johannes, Horvath, Steve, Propping, Peter, Elger, Christian Erich, Heils, Armin

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A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions by Kananura, Colette, Haug, Karsten, Sander, Thomas, Runge, Uwe, Gu, Wenli, Hallmann, Kerstin, Rebstock, Johannes, Heils, Armin, Steinlein, Ortrud K

“…Missense mutations in the GABRG2 gene, which encodes the gamma 2 subunit of central nervous gamma-aminobutyric acid (GABA)(A) receptors, have recently been…”
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ETA receptor blockade induces fibrosis of the clipped kidney in two-kidney-one-clip renovascular hypertensive rats by Hocher, Berthold, George, Ines, Diekmann, Fritz, Zart, Rüdiger, Rebstock, Johannes, Schwarz, Anja, Thöne-Reineke, Christa, Neumayer, Hans-H, Bauer, Christian

“…BACKGROUNDIn two kidney-one clip renovascular hypertension (2K1C), blood flow is reduced in the clipped kidney leading to ischaemia. The non-clipped kidney is…”
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The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy by Haug, Karsten, Hallmann, Kerstin, Rebstock, Johannes, Dullinger, Joern, Muth, Sabine, Haverkamp, Fritz, Pfeiffer, Heike, Rau, Birgit, Elger, Christian Erich, Propping, Peter, Heils, Armin

“…We tested the hypothesis that genetic variation in the human sodium channel gene SCN2A confers liability to idiopathic generalized epilepsy (IGE). We performed…”
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Interleukin-1? gene polymorphism and susceptibility to temporal lobe epilepsy with hippocampal sclerosis by Heils, Armin, Haug, Karsten, Kunz, Wolfram S., Fernandez, Guillen, Horvath, Steve, Rebstock, Johannes, Propping, Peter, Elger, Christian Erich

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