Lemke, Johannes

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2016

Stamberger, Hannah; Nikanorova, Marina; Willemsen, Marjolein H; Accorsi, Patrizia; Angriman, Marco; Baier, Hartmut; Benkel-Herrenbrueck, Ira; Benoit, Valérie; Budetta, Mauro; Caliebe, Almuth; Cantalupo, Gaetano; Capovilla, Giuseppe; Casara, Gianluca; Courage, Carolina; Deprez, Marie; Destrée, Anne; Dilena, Robertino; Erasmus, Corrie E; Fannemel, Madeleine; Fjær, Roar; ... (2016). STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology, 86(10), pp. 954-962. Lippincott Williams & Wilkins 10.1212/WNL.0000000000002457

2015

Syrbe, Steffen; Hedrich, Ulrike B S; Riesch, Erik; Djémié, Tania; Müller, Stephan; Møller, Rikke S; Maher, Bridget; Hernandez-Hernandez, Laura; Synofzik, Matthis; Caglayan, Hande S; Arslan, Mutluay; Serratosa, José M; Nothnagel, Michael; May, Patrick; Krause, Roland; Löffler, Heidrun; Detert, Katja; Dorn, Thomas; Vogt, Heinrich; Krämer, Günter; ... (2015). De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nature genetics, 47(4), pp. 393-399. Nature America 10.1038/ng.3239

2014

Lemke, Johannes R.; Hendrickx, Rik; Geider, Kirsten; Laube, Bodo; Schwake, Michael; Harvey, Robert J.; James, Victoria M.; Pepler, Alex; Steiner, Isabelle; Hörtnagel, Konstanze; Neidhardt, John; Ruf, Susanne; Wolff, Markus; Bartholdi, Deborah; Caraballo, Roberto; Platzer, Konrad; Suls, Arvid; De Jonghe, Peter; Biskup, Saskia and Weckhuysen, Sarah (2014). GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy. Annals of neurology, 75(1), pp. 147-154. Wiley-Blackwell 10.1002/ana.24073

2013

Lemke, Johannes; Lal, Dennis; Reinthaler, Eva M; Steiner, Isabelle; Nothnagel, Michael; Alber, Michael; Geider, Kirsten; Laube, Bodo; Schwake, Michael; Finsterwalder, Katrin; Franke, Andre; Schilhabel, Markus; Jähn, Johanna A; Muhle, Hiltrud; Boor, Rainer; Van Paesschen, Wim; Caraballo, Roberto; Fejerman, Natalio; Weckhuysen, Sarah; De Jonghe, Peter; ... (2013). Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature genetics, 45(9), pp. 1067-1072. Nature America 10.1038/ng.2728

Klingler, Jan-Helge; Krüger, Marie T; Lemke, Johannes R; Jilg, Cordula; Van Velthoven, Vera; Zentner, Josef; Neumann, Hartmut P H; Gläsker, Sven (2013). Sequence variations in the von Hippel-Lindau tumor suppressor gene in patients with intracranial aneurysms. Journal of stroke and cerebrovascular diseases, 22(4), pp. 437-43. New York, N.Y.: W.B. Saunders 10.1016/j.jstrokecerebrovasdis.2013.01.016

Kipfer, Stefan; Jung, Simon; Lemke, Johannes R.; Kipfer-Kauer, Anna; Howell, Jeremy P.; Kaelin-Lang, Alain; Nyffeler, Thomas; Gutbrod, Klemens; Abicht, Angela; Müri, René M. (2013). Novel CACNA1A mutation(s) associated with slow saccade velocities. Journal of neurology, 260(12), pp. 3010-3014. Springer-Medizin-Verlag 10.1007/s00415-013-7099-4

Weckhuysen, S.; Ivanovic, V.; Hendrickx, R.; Van Coster, R.; Hjalgrim, H.; Moller, R. S.; Gronborg, S.; Schoonjans, A.-S.; Ceulemans, B.; Heavin, S. B.; Eltze, C.; Horvath, R.; Casara, G.; Pisano, T.; Giordano, L.; Rostasy, K.; Haberlandt, E.; Albrecht, B.; Bevot, A.; Benkel, I.; ... (2013). Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients. Neurology, 81(19), pp. 1697-1703. Lippincott Williams & Wilkins 10.1212/01.wnl.0000435296.72400.a1

Suls, Arvid; Jaehn, Johanna A.; Kecskés, Angela; Weber, Yvonne; Weckhuysen, Sarah; Craiu, Dana C.; Siekierska, Aleksandra; Djémié, Tania; Afrikanova, Tatiana; Gormley, Padhraig; von Spiczak, Sarah; Kluger, Gerhard; Iliescu, Catrinel M.; Talvik, Tiina; Talvik, Inga; Meral, Cihan; Caglayan, Hande S.; Giraldez, Beatriz G.; Serratosa, José; Lemke, Johannes; ... (2013). De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome. American journal of human genetics, 93(5), pp. 967-975. Cell Press 10.1016/j.ajhg.2013.09.017

Hansen, Jörg; Mohr, Julia; Bürki, Sarah Elisabeth; Lemke, Johannes (2013). A case of cohesinopathy with a novel de-novo SMC1A splice site mutation. Clinical Dysmorphology, 22(4), pp. 143-145. 10.1097/MCD.0b013e3283645439

2012

Lemke, Johannes R; Riesch, Erik; Scheurenbrand, Tim; Schubach, Max; Wilhelm, Christian; Steiner, Isabelle; Hansen, Jörg; Courage, Carolina; Gallati, Sabina; Bürki, Sarah; Strozzi, Susi; Simonetti, Barbara Goeggel; Grunt, Sebastian; Steinlin, Maja; Alber, Michael; Wolff, Markus; Klopstock, Thomas; Prott, Eva C; Lorenz, Rüdiger; Spaich, Christiane; ... (2012). Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia, 53(8), pp. 1387-98. Malden, Mass.: Wiley-Blackwell 10.1111/j.1528-1167.2012.03516.x

Goeggel Simonetti, Barbara; Rieubland, Claudine; Courage, Carolina; Strozzi, Susi; Tschumi, Sibylle; Gallati, Sabina; Lemke, Johannes R (2012). Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy. Epilepsia, 53(12), pp. 2128-34. Malden, Mass.: Wiley-Blackwell 10.1111/j.1528-1167.2012.03676.x

Kousi, Maria; Anttila, Verneri; Schulz, Angela; Calafato, Stella; Jakkula, Eveliina; Riesch, Erik; Myllykangas, Liisa; Kalimo, Hannu; Topçu, Meral; Gökben, Sarenur; Alehan, Fusun; Lemke, Johannes R; Alber, Michael; Palotie, Aarno; Kopra, Outi; Lehesjoki, Anna-Elina (2012). Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. Journal of medical genetics, 49(6), pp. 391-9. London: BMJ Publishing Group 10.1136/jmedgenet-2012-100859

2010

Poloschek, Charlotte M; Bach, Michael; Lagreze, W A; Glaus, Esther; Lemke, Johannes; Berger, Wolfgang; Neidhardt, John (2010). ABCA4 and ROM1: Implications for modification of the PRPH2-associated macular dystrophy phenotype. Investigative ophthalmology & visual science, 51(8), pp. 4253-65. Hagerstown, Md.: Association for Research in Vision and Ophthalmology 10.1167/iovs.09-4655

2009

Lemke, Johannes R; Beck-Wödl, Stefanie; Zankl, Andreas; Riegel, Mariluce; Krämer, Günter; Dorn, Thomas (2009). Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence? Seizure - European journal of epilepsy, 18(9), pp. 660-3. Oxford: Elsevier 10.1016/j.seizure.2009.07.008

Hilton, Emma; Johnston, Jennifer; Whalen, Sandra; Okamoto, Nobuhiko; Hatsukawa, Yoshikazu; Nishio, Juntaro; Kohara, Hiroshi; Hirano, Yoshiko; Mizuno, Seiji; Torii, Chiharu; Kosaki, Kenjiro; Manouvrier, Sylvie; Boute, Odile; Perveen, Rahat; Law, Caroline; Moore, Anthony; Fitzpatrick, David; Lemke, Johannes; Fellmann, Florence; Debray, Francois-Guillaume; ... (2009). BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. European journal of human genetics, 17(10), 1325-35. Epub 2009 Apr 15.. Houndmills, UK: Nature Publishing Group 10.1038/ejhg.2009.52

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