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Research Output 2004 2019

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 othersde 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

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

Diagnosis, prognosis, and treatment of leukodystrophies

van der Knaap, M. S., Schiffmann, R., Mochel, F. & Wolf, N. I., 1 Oct 2019, In : The Lancet Neurology. 18, 10, p. 962-972

Research output: Contribution to journalReview articleAcademicpeer-review

Dystonia in RNA Polymerase III-Related Leukodystrophy

Al Yazidi, G., Tran, L. T., Guerrero, K., Vanderver, A., Schiffmann, R., Wolf, N. I., Chouinard, S. & Bernard, G., 1 Feb 2019, In : Movement Disorders Clinical Practice. 6, 2, p. 155-159 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Een 4-jarig meisje met dubbelzien na een trauma

van Berkel, M. M., Wolf, N. I., van de Ven, S. J. N., Kraal-Biezen, E. & van de Pol, L. A., 2019, In : Nederlands Tijdschrift voor Geneeskunde. 163, 39, D3965.

Research output: Contribution to journalArticleProfessional