1. Current practice in diagnostic genetic testing of the epilepsies. Issue 5 (3rd November 2022) Authors: Krey, Ilona; Platzer, Konrad; Esterhuizen, Alina; Berkovic, Samuel F.; Helbig, Ingo; Hildebrand, Michael S.; Lerche, Holger; Lowenstein, Daniel; Møller, Rikke S.; Poduri, Annapurna; Sadleir, Lynette; Sisodiya, Sanjay M.; Weckhuysen, Sarah; Wilmshurst, Jo M.; Weber, Yvonne; Lemke, Johannes R. Journal: Epileptic disorders Issue: Volume 24:Issue 5(2022) Page Start: 765 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. DEPDC5 mutations in genetic focal epilepsies of childhood. Issue 5 (14th April 2014) Authors: Lal, Dennis; Reinthaler, Eva M.; Schubert, Julian; Muhle, Hiltrud; Riesch, Erik; Kluger, Gerhard; Jabbari, Kamel; Kawalia, Amit; Bäumel, Christine; Holthausen, Hans; Hahn, Andreas; Feucht, Martha; Neophytou, Birgit; Haberlandt, Edda; Becker, Felicitas; Altmüller, Janine; Thiele, Holger; Lemke, Jo... Journal: Annals of neurology Issue: Volume 75:Issue 5(2014:May) Page Start: 788 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Genetic testing before epilepsy surgery – An exploratory survey and case collection from German epilepsy centers. (February 2022) Authors: Boßelmann, Christian Malte; San Antonio-Arce, Victoria; Schulze-Bonhage, Andreas; Fauser, Susanne; Zacher, Pia; Mayer, Thomas; Aparicio, Javier; Albers, Kristina; Cloppenborg, Thomas; Kunz, Wolfram; Surges, Rainer; Syrbe, Steffen; Weber, Yvonne; Wolking, Stefan Journal: Seizure Issue: Volume 95(2022) Page Start: 4 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Intravenous lacosamide in clinical practice–Results from an independent registry. (July 2016) Authors: Lang, Nicolas; Lange, Max; Schmitt, Friedhelm C.; Bös, Monika; Weber, Yvonne; Evers, Stefan; Burghaus, Lothar; Kellinghaus, Christoph; Schubert-Bast, Susanne; Bösel, Julian; Lammers, Thorsten; Sabolek, Michael; van Baalen, Andreas; Dziewas, Rainer; Kraft, Andrea; Ruf, Susanne; Stephani, Ulrich Journal: Seizure Issue: Volume 39(2016) Page Start: 5 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Intravenous lacosamide in clinical practice–Results from an independent registry. (July 2016) Authors: Lang, Nicolas; Lange, Max; Schmitt, Friedhelm C.; Bös, Monika; Weber, Yvonne; Evers, Stefan; Burghaus, Lothar; Kellinghaus, Christoph; Schubert-Bast, Susanne; Bösel, Julian; Lammers, Thorsten; Sabolek, Michael; van Baalen, Andreas; Dziewas, Rainer; Kraft, Andrea; Ruf, Susanne; Stephani, Ulrich Journal: Seizure Issue: Volume 39(2016) Page Start: 5 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood. (19th July 2022) Authors: Stamberger, Hannah; Crosiers, David; Balagura, Ganna; Bonardi, Claudia M.; Basu, Anna; Cantalupo, Gaetano; Chiesa, Valentina; Christensen, Jakob; Dalla Bernardina, Bernardo; Ellis, Colin A.; Furia, Francesca; Gardiner, Fiona; Giron, Camille; Guerrini, Renzo; Klein, Karl Martin; Korff, Christian; ... Journal: Neurology Issue: Volume 99:Number 3(2022) Page Start: e221 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Optimization of a nonviral transfection system to evaluate Cox‐2 controlled interleukin‐4 expression for osteoarthritis gene therapy in vitro. (November 2014) Authors: Lang, Annemarie; Neuhaus, Johannes; Pfeiffenberger, Moritz; Schröder, Erik; Ponomarev, Igor; Weber, Yvonne; Gaber, Timo; Schmidt, Michael F. G. Journal: Journal of gene medicine Issue: Volume 16:Number 11/12(2014:Nov./Dec.) Page Start: 352 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. (13th September 2016) Authors: Johannesen, Katrine; Marini, Carla; Pfeffer, Siona; Møller, Rikke S.; Dorn, Thomas; Niturad, Christina; Gardella, Elena; Weber, Yvonne; Søndergård, Marianne; Hjalgrim, Helle; Nikanorova, Mariana; Becker, Felicitas; Larsen, Line H.G.; Dahl, Hans A.; Maier, Oliver; Mei, Davide; Biskup, Saskia; Klei... Journal: Neurology Issue: Volume 87:Number 11(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Pyridoxine or pyridoxal‐5‐phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study. (26th January 2022) Authors: Bayat, Allan; Aledo‐Serrano, Angel; Gil‐Nagel, Antonio; Korff, Christian M.; Thomas, Ashley; Boßelmann, Christian; Weber, Yvonne; Gardella, Elena; Lund, Allan M; de Sain‐van der Velden, Monique G. M.; Møller, Rikke S Journal: Developmental medicine & child neurology Issue: Volume 64:Number 6(2022) Page Start: 789 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. (30th December 2014) Authors: Hardies, Katia; May, Patrick; Djémié, Tania; Tarta-Arsene, Oana; Deconinck, Tine; Craiu, Dana; Helbig, Ingo; Suls, Arvid; Balling, Rudy; Weckhuysen, Sarah; De Jonghe, Peter; Hirst, Jennifer; Afawi, Zaid; Barisic, Nina; Baulac, Stéphanie; Caglayan, Hande; Depienne, Christel; De Kovel, Carolien G.F... Journal: Human molecular genetics Issue: Volume 24:Number 8(2015:Apr. 15) Page Start: 2218 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗