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Research Output

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

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients

Vals, M-A., Ashikov, A., Ilves, P., Loorits, D., Zeng, Q., Barone, R., Huijben, K., Sykut-Cegielska, J., Diogo, L., Elias, A. F., Greenwood, R. S., Grunewald, S., van Hasselt, P. M., van de Kamp, J. M., Mancini, G., Okninska, A., Pajusalu, S., Rudd, P. M., Rustad, C. F., Salvarinova, R. & 5 others, de Vries, B. B. A., Wolf, N. I., Lefeber, D. J., Õunap, K. & EPGEN Study, 1 May 2019, In : Journal of Inherited Metabolic Disease. 42, 3, p. 553-564 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

De novo SPAST mutations may cause a complex SPG4 phenotype

Schieving, J. H., de Bot, S. T., van de Pol, L. A., Wolf, N. I., Brilstra, E. H., Frints, S. G., van Gaalen, J., Misra-Isrie, M., Pennings, M., Verschuuren-Bemelmans, C. C., Kamsteeg, E-J., van de Warrenburg, B. P. & Willemsen, M. A., 1 Jul 2019, In : Brain. 142, 7, p. e31

Research output: Contribution to journalArticleAcademicpeer-review

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures (Brain (2019))

Horn, S., Au, M., Basel-Salmon, L., Bayrak-Toydemir, P., Chapin, A., Cohen, L., Elting, M. W., Graham, J. M., Gonzaga-Jauregui, C., Konen, O., Holzer, M., Lemke, J., Miller, C. E., Rey, L. K., Wolf, N. I., Weiss, M. M., Waisfisz, Q., Mirzaa, G. M., Wieczorek, D., Sticht, H. & 1 others, Jamra, R. A., 1 Nov 2019, In : Brain. 142, 11, p. 3351-3359 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access