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Research Output 2012 2016

  • 20 Article
  • 1 Chapter
  • 1 PhD Thesis - Research VU, graduation VU

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

Altered PLP1 splicing causes hypomyelination of early myelinating structures

Kevelam, S. H. , Taube, J. R. , van Spaendonk, R. M. L. , Bertini, E. , Sperle, K. , Tarnopolsky, M. , Tonduti, D. , Valente, E. M. , Travaglini, L. , Sistermans, E. A. , Bernard, G. , Catsman-Berrevoets, C. E. , van Karnebeek, C. D. M. , Ostergaard, J. R. , Friederich, R. L. , Elsaid, M. F. , Schieving, J. H. , Tarailo-Graovac, M. , Orcesi, S. , Steenweg, M. E. & 6 others van Berkel, C. G. M., Waisfisz, Q., Abbink, G. E. M., Knaap, M., Hobson, G. M. & Wolf, N. I., 2015, In : Annals of Clinical and Translational Neurology. 2, 6, p. 648-661

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access

CLCN2-Related Leukoencephalopathy

Knaap, M., Depienne, C., Sedel, F. & Abbink, T. E. M., 2015, GeneReviews® [internet]. Pagon, R. A., Adam, M. P. & Ardinger, H. H. (eds.). Seattle (WA): University of Washington

Research output: Chapter in Book / Report / Conference proceedingChapterAcademic

DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder

Wolf, N. I., Toro, C., Kister, I., Abd Latif, K., Leventer, R., Pizzino, A., Simons, C., Abbink, G. E. M., Taft, R. J., van der Knaap, M. S. & Vanderver, A., 2015, In : Neurology. 84, 3, p. 226-230

Research output: Contribution to JournalArticleAcademicpeer-review

Spinal Cord

Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts

Kariminejad, A., Rajaee, A., Ashrafi, M. R., Alizadeh, H., Tonekaboni, S. H., Malamiri, R. A., Ghofrani, M., Karimzadeh, P., Mohammadi, M. M., Baghalshooshtari, A., Bozorgmehr, B., Kariminejad, M. H., Postma, N., Abbink, G. E. M. & van der Knaap, M. S., 2015, In : European Journal of Medical Genetics. 58, 2, p. 71-74

Research output: Contribution to JournalArticleAcademicpeer-review

Magnetic Resonance Imaging