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Research Output 1997 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 journalArticle

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 journalArticle

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 journalArticle

Hypomyelination with tooth and bone involvement: New insights: Brain MR imaging and in vitro models

Cayami, F. K. 2018 194 p.

Research output: ThesisPhD Thesis - Research VU, graduation VU

Open Access
File

Metachromatic leukodystrophy: Natural evolution and treatment effects

van Rappard, D. F. 2018 183 p.

Research output: ThesisPhD Thesis - Research VU, graduation VU

Open Access
File