Amsterdam Neuroscience
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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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Five men with arresting and relapsing cerebral adrenoleukodystrophy
Carlson, A. M., Huffnagel, I. C., Verrips, A., van der Knaap, M. S., Engelen, M. & van Haren, K., Mar 2021, In: Journal of neurology. 268, 3, p. 936-940 5 p.Research output: Contribution to journal › Article* › Academic › peer-review
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Correction to: Berardinelli-Seip syndrome and achalasia: a shared pathomechanism? (European Journal of Pediatrics, (2015), 174, 7, (975-980), 10.1007/s00431-015-2556-y): Berardinelli-Seip syndrome and achalasia: a shared pathomechanism? (European Journal of Pediatrics, (2015), 174, 7, (975-980), 10.1007/s00431-015-2556-y)
van der Pol, R. J., Benninga, M. A., Magré, J., van Maldergem, L., Rotteveel, J., van der Knaap, M. S. & de Meij, T. G., 1 Oct 2020, In: European journal of pediatrics. 179, 10, p. 1653-1654 2 p.Research output: Contribution to journal › Comment/Letter to the editor* › Academic
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