Regulation of ClC-2 gating by intracellular ATP

by Stölting, Gabriel, Teodorescu, Georgeta, Begemann, Birgit, Schubert, Julian, Nabbout, Rima, Toliat, Mohammad Reza, Sander, Thomas, Nürnberg, Peter, Lerche, Holger, Fahlke, Christoph
Published 2013

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia

by Helbig, Katherine L., Hedrich, Ulrike B.S., Shinde, Deepali N., Krey, Ilona, Teichmann, Anne‐Christin, Hentschel, Julia, Schubert, Julian, Chamberlin, Adam C., Huether, Robert, Lu, Hsiao‐Mei, Alcaraz, Wendy A., Tang, Sha, Jungbluth, Chelsy, Dugan, Sarah L., Vainionpää, Leena, Karle, Kathrin N., Synofzik, Matthis, Schöls, Ludger, Schüle, Rebecca, Lehesjoki, Anna‐Elina, Helbig, Ingo, Lerche, Holger, Lemke, Johannes R.
Published 2016

CHD2 variants are a risk factor for photosensitivity in epilepsy

by Galizia, Elizabeth C., Myers, Candace T., Leu, Costin, de Kovel, Carolien G. F., Afrikanova, Tatiana, Cordero-Maldonado, Maria Lorena, Martins, Teresa G., Jacmin, Maxime, Drury, Suzanne, Krishna Chinthapalli, V., Muhle, Hiltrud, Pendziwiat, Manuela, Sander, Thomas, Ruppert, Ann-Kathrin, Møller, Rikke S., Thiele, Holger, Krause, Roland, Schubert, Julian, Lehesjoki, Anna-Elina, Nürnberg, Peter, Lerche, Holger, Palotie, Aarno, Coppola, Antonietta, Striano, Salvatore, Gaudio, Luigi Del, Boustred, Christopher, Schneider, Amy L., Lench, Nicholas, Jocic-Jakubi, Bosanka, Covanis, Athanasios, Capovilla, Giuseppe, Veggiotti, Pierangelo, Piccioli, Marta, Parisi, Pasquale, Cantonetti, Laura, Sadleir, Lynette G., Mullen, Saul A., Berkovic, Samuel F., Stephani, Ulrich, Helbig, Ingo, Crawford, Alexander D., Esguerra, Camila V., Kasteleijn-Nolst Trenité, Dorothee G. A., Koeleman, Bobby P. C., Mefford, Heather C., Scheffer, Ingrid E., Sisodiya, Sanjay M.
Published 2015