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Research Output

4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype

Verberne, E. A., Dalen Meurs, L., Wolf, N. I. & van Haelst, M. M., 1 Jul 2020, In : American Journal of Medical Genetics, Part A. 182, 7, p. 1776-1779 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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 Jan 2020, (Accepted/In press) In : Neurogenetics.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

To the Reviewers of Neuropediatrics in 2019

Plecko, B., Wolf, N. I. & Neubauer, B. A., 1 Aug 2020, In : Neuropediatrics. 51, 4, p. 237-239 3 p.

Research output: Contribution to journalEditorialAcademicpeer-review

Open Access

Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction

Panneman, D. M., Wortmann, S. B., Haaxma, C. A., van Hasselt, P. M., Wolf, N. I., Hendriks, Y., Küsters, B., van Emst-de Vries, S., van de Westerlo, E., Koopman, W. J. H., Wintjes, L., van den Brandt, F., de Vries, M., Lefeber, D. J., Smeitink, J. A. M. & Rodenburg, R. J., 1 Apr 2020, In : Clinical Genetics. 97, 4, p. 556-566 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Aminoacyl-tRNA synthetase deficiencies in search of common themes

Fuchs, S. A., Schene, I. F., Kok, G., Jansen, J. M., Nikkels, P. G. J., van Gassen, K. L. I., Terheggen-Lagro, S. W. J., van der Crabben, S. N., Hoeks, S. E., Niers, L. E. M., Wolf, N. I., de Vries, M. C., Koolen, D. A., Houwen, R. H. J., Mulder, M. F. & van Hasselt, P. M., 1 Feb 2019, In : Genetics in Medicine. 21, 2, p. 319-330

Research output: Contribution to journalArticleAcademicpeer-review