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  • 2016

    Multisystemic SYNE1 ataxia: Confirming the high frequency and extending the mutational and phenotypic spectrum

    Mademan, I., Harmuth, F., Giordano, I., Timmann, D., Magri, S., Deconinck, T., Claaßen, J., Jokisch, D., Genc, G., Di Bella, D., Romito, S., Schüle, R., Züchner, S., Taroni, F., Klockgether, T., Schöls, L., De Jonghe, P., Bauer, P., Baets, J. & Synofzik, M., Aug 1 2016, In: Brain. 139, 8, p. e46

    Research output: Contribution to journalLetterpeer-review

  • NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

    Kenna, K. P., van Doormaal, P. T. C., Dekker, A. M., Ticozzi, N., Kenna, B. J., Diekstra, F. P., Van Rheenen, W., van Eijk, K. R., Jones, A., Keagle, P. J., Shatunov, A., Sproviero, W., Smith, B. N., van Es, M. A., Topp, S., Kenna, A., Miller, J., Fallini, C., Tiloca, C., McLaughlin, R. L. & 61 others, Vance, C., Troakes, C., Colombrita, C., Mora, G., Calvo, A., Verde, F., Al-Sarraj, S., King, A., Calini, D., De Belleroche, J., Baas, F., Van Der Kooi, A. J., De Visser, M., ten Asbroek, A. L. M. A., Sapp, P. C., McKenna-Yasek, D., Polak, M., Asress, S., Muñoz-Blanco, J. L., Strom, T. M., Meitinger, T., Morrison, K. E., Lauria, G., Lauria, G., Leigh, P. N., Nicholson, G. A., Blair, I. P., Leblond, C. S., Dion, P. A., Rouleau, G. A., Pall, H., Shaw, P. J., Turner, M. R., Talbot, K., Taroni, F., Taroni, F., Van Blitterswijk, M., Rademakers, R., Esteban-Pérez, J., Garcia Redondo, A., van Damme, P., Robberecht, W., Chiò, A., Gellera, C., Gellera, C., Sendtner, M., Ratti, A., Ratti, A., Mora, J. S., Basak, N. A., Hardiman, O., Ludolph, A. C., Andersen, P. M., Weishaupt, J. H., Brown, R. H., Al-Chalabi, A., Silani, V., Silani, V., Van Den Berg, L. H., Veldink, J. & Landers, J., 2016, In: Nature Genetics.

    Research output: Contribution to journalLetterpeer-review