20122016
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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 journalArticle

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 journalArticle

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 proceedingChapter

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 journalArticle

Leukoencephalopathies
Steroids
Spinal Cord
Paraplegia
Mutation

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 journalArticle

Mutation
Megalencephaly
Seizures
Magnetic Resonance Imaging
Inbreeding