1. Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study

   de Mol, C. L., Wong, Y. Y. M., van Pelt, E. D., Ketelslegers, I. A., Bakker, D. P., Boon, M., Braun, K. P. J., van Dijk, K. G. J., Eikelenboom, M. J., Engelen, M., Geleijns, K., Haaxma, C. A., Niermeijer, J. M. F., Niks, E. H., Peeters, E. A. J., Peeters-Scholte, C. M. P. C. D., Poll-The, B. T., Portier, R. P., de Rijk-van Andel, J. F., Samijn, J. P. A., Schippers, H. M., Snoeck, I. N., Stroink, H., Vermeulen, R. J., Verrips, A., Visscher, F., Vles, J. S. H., Willemsen, M. A. A. P., Catsman-Berrevoets, C. E., Hintzen, R. Q. & Neuteboom, R. F., Jun-2018, In : Journal of Neurology. 265, 6, p. 1310-1319 10 p.

   Research output: Contribution to journal › Article › Academic › peer-review

2. PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

   Care4Rare Canada Consortium, Johnstone, D. L., Al-Shekaili, H. H., Tarailo-Graovac, M., Wolf, N. I., Ivy, A. S., Demarest, S., Roussel, Y., Ciapaite, J., van Roermund, C. W. T., Kernohan, K. D., Kosuta, C., Ban, K., Ito, Y., McBride, S., Al-Thihli, K., Abdelrahim, R. A., Koul, R., Al Futaisi, A., Haaxma, C. A., Olson, H., Sigurdardottir, L. Y., Arnold, G. L., Gerkes, E. H., Boon, M., Heiner-Fokkema, M. R., Noble, S., Bosma, M., Jans, J., Koolen, D. A., Kamsteeg, E-J., Drögemöller, B., Ross, C. J., Majewski, J., Cho, M. T., Begtrup, A., Wasserman, W. W., Bui, T., Brimble, E., Violante, S., Houten, S. M., Wevers, R. A., van Faassen, M., Kema, I. P., Lepage, N., Lines, M. A., Dyment, D. A., Wanders, R. J. A., Verhoeven-Duif, N., Ekker, M. & Boycott, K. M., Mar-2019, In : Brain. 142, p. 542-559 18 p.

   Research output: Contribution to journal › Article › Academic › peer-review

3. Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces

   Sinnige, P. F., van Rauenswaaij-Arts, C. M. A., Caruso, P., Lin, A. E., Boon, M., Rahikkala, E., Callewaert, B. & Meiners, L. C., Nov-2017, In : European Journal of Paediatric Neurology. 21, 6, p. 912-920 9 p.

   Research output: Contribution to journal › Article › Academic › peer-review

4. Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach (vol 13, pg 192, 2016)

   Boerma, R. S., Braun, K. P., van den Broek, M. P. H., van Berkestijn, F. M. C., Swinkels, M. E., Hagebeuk, E. O., Lindhout, D., van Kempen, M., Boon, M., Nicolai, J., de Kovel, C. G., Brilstra, E. H. & Koeleman, B. P. C., Jan-2016, In : Neurotherapeutics. 13, 1, p. 238-238 1 p.

   Research output: Contribution to journal › Article › Academic › peer-review

5. Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

   Boerma, R. S., Braun, K. P., van de Broek, M. P. H., van Berkestijn, F. M. C., Swinkels, M. E., Hagebeuk, E. O., Lindhout, D., van Kempen, M., Boon, M., Nicolai, J., de Kovel, C. G., Brilstra, E. H. & Koeleman, B. P. C., Jan-2016, In : Neurotherapeutics. 13, 1, p. 192-197 6 p.

   Research output: Contribution to journal › Article › Academic › peer-review

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