Universität zu Köln

2020

Ferreira, N. Mendoza, Karakaya, M., Cengiz, N., Beijer, D., Fuhrmann, N., Hoelker, I., Schrank, B., Brigatti, K., Gonzaga-Jauregui, C., Puffenberger, E., Wunderlich, G., De Jonghe, P., Deconinck, T., Strauss, K., Baets, J. and Wirth, B. (2020). Mutations in the Golgi protein GBF1 as a novel cause of distal hereditary motor neuropathy. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 99 - 100. LONDON: SPRINGERNATURE. ISSN 1476-5438

2016

Stamberger, H., Coppola, A., Djemie, T., Cellini, E., Cetica, V, Mefford, H., Guerrini, R., De Jonghe, P., Lal, D., Sisodiya, S. and Marini, C. (2016). SYSTEMATIC LARGE SCALE GENOME-WIDE ANALYSIS OF CNVS IN PATIENTS WITH EPILEPSY PLUS. Epilepsia, 57. S. 125 - 126. HOBOKEN: WILEY. 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

2015

Djemie, T., Dejanovic, B., Suls, A., Gruenewald, N., Craiu, D., Zemel, M., Gormley, P., Lal, D., Myers, C. T., Mefford, H., Palotie, A., Helbig, I., De Jonghe, P., Schwarz, G. and Weckhuysen, S. (2015). SIMULTANEOUS IMPAIRMENT OF NEURONAL AND METABOLIC FUNCTION OF GEPHYRIN IN A PATIENT WITH EPILEPTIC ENCEPHALOPATHY. Epilepsia, 56. S. 223 - 225. HOBOKEN: WILEY-BLACKWELL. ISSN 1528-1167

Djemie, T., Dejanovic, B., Suls, A., Gruenewald, N., Craiu, D., Zemel, M., Gormley, P., Lal, D., Myers, C. T., Mefford, H., Palotie, A., Helbig, I., De Jonghe, P., Schwarz, G. and Weckhuysen, S. (2015). SIMULTANEOUS IMPAIRMENT OF NEURONAL AND METABOLIC FUNCTION OF GEPHYRIN IN A PATIENT WITH EPILEPTIC ENCEPHALOPATHY. Epilepsia, 56. S. 223 - 225. HOBOKEN: WILEY-BLACKWELL. ISSN 1528-1167

Siekierska, A., Schubert, J., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., De Kovel, C. G. F., Thiele, H., Kecskes, A., Jacmin, M., Koeleman, B., Martin, B., de Witte, P. A. M., Biskup, S., De Jonghe, P., Helbig, I., Balling, R., Nuernberg, P., Crawford, A. D., Weber, Y. G., Lerche, H. and Esguerra, C. V. (2015). MODELING OF FEVER-ASSOCIATED EPILEPSY SYNDROMES CAUSED BY MUTATIONS IN STX1B IN ZEBRAFISH. Epilepsia, 56. S. 220 - 221. HOBOKEN: WILEY-BLACKWELL. ISSN 1528-1167

Siekierska, A., Schubert, J., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., De Kovel, C. G. F., Thiele, H., Kecskes, A., Jacmin, M., Koeleman, B., Martin, B., de Witte, P. A. M., Biskup, S., De Jonghe, P., Helbig, I., Balling, R., Nuernberg, P., Crawford, A. D., Weber, Y. G., Lerche, H. and Esguerra, C. V. (2015). MODELING OF FEVER-ASSOCIATED EPILEPSY SYNDROMES CAUSED BY MUTATIONS IN STX1B IN ZEBRAFISH. Epilepsia, 56. S. 220 - 221. 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

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