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Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy
Al-Saady, M. L., Kaiser, C. S., Wakasuqui, F., Korenke, G. C., Waisfisz, Q., Polstra, A., Pouwels, P. J. W., Bugiani, M., van der Knaap, M. S., Lunsing, R. J., Liebau, E. & Wolf, N. I., 1 Dec 2021, In: Neuropediatrics. 52, 6, p. 489-494 6 p.Research output: Contribution to journal › Article* › Academic › peer-review
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The European Reference Network for Rare Neurological Diseases
Reinhard, C., Bachoud-Lévi, A.-C., Bäumer, T., Bertini, E., Brunelle, A., Buizer, A. I., Federico, A., Gasser, T., Groeschel, S., Hermanns, S., Klockgether, T., Krägeloh-Mann, I., Landwehrmeyer, G. B., Leber, I., Macaya, A., Mariotti, C., Meissner, W. G., Molnar, M. J., Nonnekes, J. & Ortigoza Escobar, J. D. & 9 others, , 14 Jan 2021, In: Frontiers in neurology. 11, p. 616569 616569.Research output: Contribution to journal › Review article* › Academic › peer-review
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Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients
Beerepoot, S., van Dooren, S. J. M., Salomons, G. S., Boelens, J. J., Jacobs, E. H., van der Knaap, M. S., van Kuilenburg, A. B. P. & Wolf, N. I., 1 Oct 2020, In: Neurogenetics. 21, 4, p. 289-299 11 p.Research output: Contribution to journal › Article* › Academic › peer-review
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