M.S. van der Knaap

prof. dr.

19972019
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Fingerprint Dive into the research topics where M.S. van der Knaap is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 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 2019

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

Van Der Knaap, M. S., Bugiani, M., Mendes, M. I., Riley, L. G., Smith, D. E. C., Rudinger-Thirion, J., Frugier, M., Breur, M., Crawford, J., Van Gaalen, J., Schouten, M., Willems, M., Waisfisz, Q., Mau-Them, F. T., Rodenburg, R. J., Taft, R. J., Keren, B., Christodoulou, J., Depienne, C., Simons, C. & 2 othersSalomons, G. S. & Mochel, F., 12 Mar 2019, In : Neurology. 92, 11, p. E1225-E1237 13 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Deafness
Aminoacylation
Transfer RNA
Brain
Fibroblasts

Cell Replacement Therapy Improves Pathological Hallmarks in a Mouse Model of Leukodystrophy Vanishing White Matter

Dooves, S., Leferink, P. S., Krabbenborg, S., Breeuwsma, N., Bots, S., Hillen, A. E. J., Jacobs, G., van der Knaap, M. S. & Heine, V. M., 5 Mar 2019, In : Stem cell reports. 12, 3, p. 441-450 10 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access
Leukoencephalopathies
Cell- and Tissue-Based Therapy
Neuroglia
Stem Cells
Stem cells

Induced pluripotent stem cell research for Vanishing White Matter: From in vitro disease modeling to in vivo cell replacement therapy

Leferink, P. S., 2019, 285 p.

Research output: PhD ThesisPhD Thesis - Research VU, graduation VUAcademic

Open Access
File

Leukodystrophies: Contributions of clinical phenotyping

Hamilton, E. M. C., 2019, 253 p.

Research output: PhD ThesisPhD Thesis - Research VU, graduation VUAcademic

Open Access
File

Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome

Helman, G., Sharma, S., Crawford, J., Patra, B., Jain, P., Bent, S. J., Urtizberea, J. A., Saran, R. K., Taft, R. J., van der Knaap, M. S. & Simons, C., 5 Feb 2019, In : Neurology. 92, 6, p. e587-e593 7 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Congenital Myasthenic Syndromes
Leukoencephalopathies
Mitochondrial Diseases
Muscle Weakness
Genome

Activities 1997 1997

  • 1 Lecture / Presentation

The significance of MRI in myelin disorders

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

Activity: Lecture / PresentationAcademic