Basic and Clinical Neuroscience

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  • 2017

    219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April–1 May 2016

    Hackman, P., Udd, B., Bönnemann, C. G., Ferreiro, A., Udd, B., Hackman, P., Ferreiro, A., Bonnemann, C., Beggs, A., Gautel, M., Davis, M., Evangelista, T., Savarese, M., Glumac, J. N., Laporte, J., Smith, J. E., Richard, I., Granzier, H., Schneider, R., Jungbluth, H., & 2 othersFoye, S. & Frase, A. R., 1 Apr 2017, Neuromuscular Disorders. 12 p.

    Research output: Book/Report › Report

    28 Citations (Scopus)

  • Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

    Epi4K Consortium, Epilepsy Phenome Genome Project, EuroEPINOMICS RES Consortium, Allen, A. S., Berkovic, S. F., Bridgers, J., Cossette, P., Dlugos, D., Epstein, M. P., Glauser, T., Goldstein, D. B., Heinzen, E. L., Jiang, Y., Johnson, M. R., Kuzniecky, R., Lowenstein, D. H., Marson, A. G., Mefford, H. C., O'Brien, T. J., Ottman, R., & 33 othersPetrou, S., Petrovski, S., Poduri, A., Ren, Z., Scheffer, I. E., Sherr, E., Wang, Q., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D., De Jonghe, P., Depienne, C., Guerrini, R., Helbig, I., Hjalgrim, H., Hoffman-Zacharska, D., Jähn, J., Klein, K. M., Koeleman, B., Komarek, V., Krause, R., Leguern, E., Lehesjoki, A. E., Lemke, J. R., Lerche, H., Linnankivi, T., Marini, C., May, P., Møller, R. S., Muhle, H. & Pal, D., 17 May 2017, (E-pub ahead of print) 7 ed. 6 p. (European Journal of Human Genetics)

    Research output: Book/Report › Report › peer-review

    7 Citations (Scopus)