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2016
Chamova, T., Gospodinova, M., Guergueltcheva, V., Krause, S., Cirak, S., Kaprelyan, A., Angelova, L., Mihaylova, V., Bichev, S., Chandler, D., Naydenov, E., Grudkova, M., Djukmedzhiev, P., Bogdanova, D., Kmetska, K., Voit, T., Pogoryelova, O., Lochmuller, H., Goebel, H., Bahlo, M., Kalaydjieva, L. and Tournev, I. (2016). GNE myopathy in Roma patients homozygous for the p.I618T founder mutation. Eur. J. Neurol., 23. S. 435 - 436. HOBOKEN: WILEY. ISSN 1468-1331
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