Universität zu Köln

Journal Article

Neri, M., Scotton, C., Gualandi, F., Wirth, B., Schoels, L., Klockgether, T., Lochmuller, H., Muntoni, F., D'amico, A., Bertini, E., Pane, M., Mercuri, E. and Ferlini, A. (2017). Genetic landscapes in neuromuscular disorders: The influence of next-generation sequencing analysis. Eur. J. Neurol., 24. S. 500 - 501. HOBOKEN: WILEY. ISSN 1468-1331

Syrbe, S., Hedrich, U., Riesch, E., Djemie, T., Mueller, S., Moller, R. S., Maher, B., Hernandez-Hernandez, L., Synofzik, M., Caglayan, H., Arslan, M., Serratosa, J., Nothnagel, M. ORCID: 0000-0001-8305-7114, May, P., Krause, R., Loeffler, H., Detert, K., Dorn, T., Vogt, H., Kraemer, G., Schoels, L., Mullis, P., Linnankivi, T., Lehesjoki, A. -E., Sterbova, K., Craiu, D., Hoffman-Zacharska, D., Korff, C., Weber, Y., Steinlin, M., Gallati, S., Bertsche, A., Bernhard, M., Merkenschlager, A., Kiess, W., Gonzalez, M., Zuechner, S., Palotie, A., Suls, A., De Jonghe, P., Helbig, I., Biskup, S., Wolff, M., Maljevic, S., Schuele, R., Sisodiya, S., Weckhuysen, S., Lerche, H. and Lemke, J. (2015). DE NOVO LOSS- OR GAIN-OF-FUNCTION MUTATIONS IN KCNA2 CAUSE EPILEPTIC ENCEPHALOPATHY. Epilepsia, 56. S. 77 - 78. HOBOKEN: WILEY-BLACKWELL. ISSN 1528-1167

Syrbe, S., Hedrich, U., Riesch, E., Djemie, T., Mueller, S., Moller, R. S., Maher, B., Hernandez-Hernandez, L., Synofzik, M., Caglayan, H., Arslan, M., Serratosa, J., Nothnagel, M. ORCID: 0000-0001-8305-7114, May, P., Krause, R., Loeffler, H., Detert, K., Dorn, T., Vogt, H., Kraemer, G., Schoels, L., Mullis, P., Linnankivi, T., Lehesjoki, A. -E., Sterbova, K., Craiu, D., Hoffman-Zacharska, D., Korff, C., Weber, Y., Steinlin, M., Gallati, S., Bertsche, A., Bernhard, M., Merkenschlager, A., Kiess, W., Gonzalez, M., Zuechner, S., Palotie, A., Suls, A., De Jonghe, P., Helbig, I., Biskup, S., Wolff, M., Maljevic, S., Schuele, R., Sisodiya, S., Weckhuysen, S., Lerche, H. and Lemke, J. (2015). DE NOVO LOSS- OR GAIN-OF-FUNCTION MUTATIONS IN KCNA2 CAUSE EPILEPTIC ENCEPHALOPATHY. Epilepsia, 56. S. 77 - 78. HOBOKEN: WILEY-BLACKWELL. ISSN 1528-1167

van der Zee, J., Gijselinck, I., Van Mossevelde, S., Perrone, F., Engelborghs, S., De Bleecker, J., Baets, J., Gelpi, E., Rojas-Garcia, R., Clarimon, J., Lleo, A., Diehl-Schmid, J., Alexopoulos, P., Perneczky, R., Synofzik, M., Just, J., Schoels, L., Graff, C., Thonberg, H., Borroni, B., Padovani, A., Jordanova, A., Sarafov, S., Tournev, I., de Mendonca, A., Miltenberger-Miltenyi, G., Simoes do Couto, F., Ramirez, A., Jessen, F., Heneka, M. T., Gomez-Tortosa, E., Danek, A., Cras, P., Vandenberghe, R., De Jonghe, P., De Deyn, P. P., Sleegers, K., Cruts, M. and Van Broeckhoven, C. (2016). TBK1 loss-of function and dominant-negative mutations in an extended European cohort of FTD and ALS patients. J. Neurochem., 138. S. 304 - 306. HOBOKEN: WILEY-BLACKWELL. ISSN 1471-4159