Marjo van der Knaap

PROF.DR., (Principal Investigator)

19992020

Research output per year

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Research Output

Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders

Vanderver, A., Bernard, G., Helman, G., Sherbini, O., Boeck, R., Cohn, J., Collins, A., Demarest, S., Dobbins, K., Emrick, L., Fraser, J., Masser-Frye, D., Hayward, J., Karmarkar, S., Keller, S., Mirrop, S., Mitchell, W., Pathak, S., Sherr, E., van Haren, K. & 11 others, Waters, E., Wilson, J. L., Zhorne, L., Schiffmann, R., van der Knaap, M. S., Pizzino, A., Dubbs, H., Shults, J., Simons, C., Taft, R. J. & LeukoSEQ Workgroup, 1 Jan 2020, (Accepted/In press) In : Annals of Neurology. 88, 2, 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Astrocyte Subtype Vulnerability in Stem Cell Models of Vanishing White Matter

Leferink, P. S., Dooves, S., Hillen, A. E. J., Watanabe, K., Jacobs, G., Gasparotto, L., Cornelissen-Steijger, P., van der Knaap, M. S. & Heine, V. M., 1 Nov 2019, In : Annals of Neurology. 86, 5, p. 780-792 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

van der Knaap, M. S., Bugiani, M., Mendes, M. I., Riley, L. G., Smith, D. E. C., Rudinger-Thirion, J., Frugier, M., Breur, M., Crawford, J., van Gaalen, J., Schouten, M., Willems, M., Waisfisz, Q., Mau-Them, F. T., Rodenburg, R. J., Taft, R. J., Keren, B., Christodoulou, J., Depienne, C., Simons, C. & 2 others, Salomons, G. S. & Mochel, F., 12 Mar 2019, In : Neurology. 92, 11, p. E1225-E1237

Research output: Contribution to journalArticleAcademicpeer-review

Cell Replacement Therapy Improves Pathological Hallmarks in a Mouse Model of Leukodystrophy Vanishing White Matter

Dooves, S., Leferink, P. S., Krabbenborg, S., Breeuwsma, N., Bots, S., Hillen, A. E. J., Jacobs, G., van der Knaap, M. S. & Heine, V. M., 5 Mar 2019, In : Stem Cell Reports. 12, 3, p. 441-450

Research output: Contribution to journalArticleAcademicpeer-review

Open Access