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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
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