Find Research Outputs

Search concepts
Selected filters

Publication Year

  • 2020
  • 2019
  • 2017
  • 2016

Author

  • M.S. van der Knaap
2016

Stem cell therapy for white matter disorders: don't forget the microenvironment!

Dooves, S., Knaap, M. & Heine, V. M., 2016, In : Journal of Inherited Metabolic Disease. 39, p. 513-518 4.

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access
2017

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC

Hamilton, E. M. C., Bertini, E., Kalaydjieva, L., Morar, B., Dojčáková, D., Liu, J., Vanderver, A., Curiel, J., Persoon, C. M., Diodato, D., Pinelli, L., Van Der Meij, N. L., Plecko, B., Blaser, S., Wolf, N. I., Waisfisz, Q., Abbink, T. E. M. & Van Der Knaap, M. S., 24 Oct 2017, In : Neurology. 89, 17, p. 1821-1828 8 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access
2019

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 10 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 13 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., Nov 2019, In : Annals of Neurology. 86, 5, p. 780-792 13 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access
2016

Leukodystrophies: Five new things.

Knaap, M., Wolf, N. & Heine, V. M., 2016, In : Neurology: Clinical Practice. 6, 6, p. 506-514 9 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Astrocytes are central in the pathomechanisms of vanishing white matter

Dooves, S., Bugiani, M., Postma, N. L., Polder, E., Land, N., Horan, S. T., van Deijk, A. L. F., van de Kreeke, A., Jacobs, J. G., Vuong, C., Klooster, J., Kamermans, M., Wortel, J., Loos, M., Wisse, L. E., Scheper, G. C., Abbink, G. E. M., Heine, V. M. & Knaap, M., 2016, In : Journal of Clinical Investigation. 126, p. 1512-1524 4.

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access
2017

Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms

van der Knaap, M. S. & Bugiani, M., 1 Sep 2017, In : Acta Neuropathologica. 134, 3, p. 351-382 32 p.

Research output: Contribution to JournalReview articleAcademicpeer-review

Open Access
2019

Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome

Helman, G., Sharma, S., Crawford, J., Patra, B., Jain, P., Bent, S. J., Urtizberea, J. A., Saran, R. K., Taft, R. J., van der Knaap, M. S. & Simons, C., 5 Feb 2019, In : Neurology. 92, 6, p. e587-e593 7 p.

Research output: Contribution to JournalArticleAcademicpeer-review

2017

Megalencephalic leukoencephalopathy with cysts: the Glialcam-null mouse model

Bugiani, M., Dubey, M., Breur, M., Postma, N. L., Dekker, M. P., Ter Braak, T., Boschert, U., Abbink, T. E. M., Mansvelder, H. D., Min, R., van Weering, J. R. T. & van der Knaap, M. S., Jul 2017, In : Annals of Clinical and Translational Neurology. 4, 7, p. 450-465 16 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access
2019

Severe leukoencephalopathy with clinical recovery caused by recessive BOLA3 mutations

Stutterd, C. A., Lake, N. J., Peters, H., Lockhart, P. J., Taft, R. J., van der Knaap, M. S., Vanderver, A., Thorburn, D. R., Simons, C. & Leventer, R. J., 2019, JIMD Reports. Morava, E. (ed.). Springer, p. 63-70 8 p. (JIMD Reports; vol. 43).

Research output: Chapter in Book / Report / Conference proceedingChapterAcademicpeer-review