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  • 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
2018

Ovarioleukodystrophy: Vanishing white matter versus AARS2-related ovarioleukodystrophy

van der Knaap, M. S. & Abbink, T. E. M., Aug 2018, In : Clinical Neurology and Neurosurgery. 171, 1 p.

Research output: Contribution to JournalLetterAcademicpeer-review

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
2018

Affected astrocytes in the spinal cord of the leukodystrophy vanishing white matter

Leferink, P. S., Breeuwsma, N., Bugiani, M., van der Knaap, M. S. & Heine, V. M., Apr 2018, In : Glia. 66, 4, p. 862-873 12 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access

Bergmann glia translocation: a new disease marker for vanishing white matter identifies therapeutic effects of Guanabenz treatment

Dooves, S., Bugiani, M., Wisse, L. E., Abbink, T. E. M., van der Knaap, M. S. & Heine, V. M., Jun 2018, In : Neuropathology and Applied Neurobiology. 44, 4, p. 391-403 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
2018

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

Mendes, M. I., Gutierrez Salazar, M., Guerrero, K., Thiffault, I., Salomons, G. S., Gauquelin, L., Tran, L. T., Forget, D., Gauthier, M. S., Waisfisz, Q., Smith, D. E. C., Simons, C., van der Knaap, M. S., Marquardt, I., Lemes, A., Mierzewska, H., Weschke, B., Koehler, W., Coulombe, B., Wolf, N. I. & 1 others, Bernard, G., 5 Apr 2018, In : American Journal of Human Genetics. 102, 4, p. 676-684 9 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Axonal abnormalities in vanishing white matter

Klok, M. D., Bugiani, M., de Vries, S. I., Gerritsen, W., Breur, M., van der Sluis, S., Heine, V. M., Kole, M. H. P., Baron, W. & van der Knaap, M. S., 1 Apr 2018, In : Annals of Clinical and Translational Neurology. 5, 4, p. 429-444 16 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access

Leukodystrophies — much more than just diseases of myelin

van der Knaap, M. S. & Bugiani, M., Dec 2018, In : Nature Reviews Neurology. 14, 12, p. 747-748 2 p.

Research output: Contribution to JournalLetterAcademicpeer-review

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
2018

Adult mouse eIF2Bϵ Arg191His astrocytes display a normal integrated stress response in vitro

Wisse, L. E., Ter Braak, T. J., Van De Beek, M. C., Van Berkel, C. G. M., Wortel, J., Heine, V. M., Proud, C. G., Van Der Knaap, M. S. & Abbink, T. E. M., 28 Feb 2018, In : Scientific Reports. 8, 1, p. 1-9 9 p., 3773.

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access

Slowly Progressive Psychiatric Symptoms: Think Metachromatic Leukodystrophy

van Rappard, D. F., de Vries, A. L. C., Oostrom, K. J., Boelens, J. J., Hollak, C. E. M., van der Knaap, M. S. & Wolf, N. I., 1 Feb 2018, In : Journal of the American Academy of Child and Adolescent Psychiatry. 57, 2, p. 86-95 10 p.

Research output: Contribution to JournalEditorialAcademicpeer-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
2018

Diffusion tensor imaging in metachromatic leukodystrophy

van Rappard, D. F., Königs, M., Steenweg, M. E., Boelens, J. J., Oosterlaan, J., van der Knaap, M. S., Wolf, N. I. & Pouwels, P. J. W., Mar 2018, In : Journal of Neurology. 265, 3, p. 659-668 10 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access

Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot

Simons, C., Dyment, D., van der Knaap, M. S. & Wolf, N. I., 1 May 2018, In : Brain. 141, 5, p. 1-2 2 p., e37.

Research output: Contribution to JournalLetterAcademicpeer-review

Natural History of Vanishing White Matter

Hamilton, E. M. C., van der Lei, H. D. W., Vermeulen, G., Gerver, J. A. M., Lourenço, C. M., Naidu, S., Mierzewska, H., Gemke, R. J. B. J., de Vet, H. C. W., Uitdehaag, B. M. J., Lissenberg-Witte, B. I., Research Group, V. W. M. & van der Knaap, M. S., Aug 2018, In : Annals of Neurology. 84, 2, p. 274-288 15 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access

Genetic defects disrupting glial ion and water homeostasis in the brain

Min, R. & van der Knaap, M. S., May 2018, In : Brain Pathology. 28, 3, p. 372-387 16 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access

Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts

Dubey, M., Brouwers, E., Hamilton, E. M. C., Stiedl, O., Bugiani, M., Koch, H., Kole, M. H. P., Boschert, U., Wykes, R. C., Mansvelder, H. D., van der Knaap, M. S. & Min, R., Mar 2018, In : Annals of Neurology. 83, 3, p. 636-649 14 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access