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Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 1 Similar Profiles
Leukoencephalopathies Medicine & Life Sciences
Mutation Medicine & Life Sciences
Magnetic Resonance Imaging Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Brain Medicine & Life Sciences
Alexander Disease Medicine & Life Sciences
Brain Stem Medicine & Life Sciences

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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 JournalArticleAcademicpeer-review

Open Access
Astrocytes
Eukaryotic Initiation Factor-2B
Mutation
White Matter
In Vitro Techniques

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

Leukoencephalopathies
Astrocytes
Spinal Cord
Pathology
Oligodendroglia

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

Astrocytes
Axons
Myelin Sheath
Prosencephalon
Coculture Techniques

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

Guanabenz
Therapeutic Uses
Neuroglia
Pathology
Therapeutics

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

Amino Acyl-tRNA Synthetases
Mutation
Aminoacylation
Myelin Sheath
Inborn Genetic Diseases

Activities 1997 1997

  • 1 Lecture / Presentation

The significance of MRI in myelin disorders

J. Valk (Speaker), van der Knaap, M. S. (Speaker)
1997

Activity: Lecture / PresentationAcademic