van der Knaap, Marjo S.

Invited article: an MRI-based approach to the diagnosis of white matter disorders

Schiffmann, R., & van der Knaap, M. S. (2009) · Neurology

Cerebrovascular and genetic disordersHereditary Neurological Disorders

Cited by 553

Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms

van der Knaap, M. S., & Bugiani, M. (2017) · Acta Neuropathologica

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 403

Diagnosis, prognosis, and treatment of leukodystrophies

van der Knaap, M. S., Schiffmann, R., Mochel, F., & Wolf, N. I. (2019) · The Lancet Neurology

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 175

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Jenkinson, E. M., Rodero, M. P., Kasher, P. R., Uggenti, C., Oojageer, A., Goosey, L. C., Rose, Y., Kershaw, C. J., Urquhart, J. E., Williams, S. G., et al. (2016) · Nature Genetics

Cerebrovascular and genetic disordersGenomics and Rare Diseases

Cited by 148

Whole exome sequencing in patients with white matter abnormalities

Vanderver, A., Simons, C., Helman, G., Crawford, J., Wolf, N. I., Bernard, G., Pizzino, A., Schmidt, J. L., Takanohashi, A., Miller, D., et al. (2016) · Annals of Neurology

Genomics and Rare DiseasesHereditary Neurological Disorders

Cited by 145

Update on leukodystrophies: A historical perspective and adapted definition

Kevelam, S., Steenweg, M., Srivastava, S., Helman, G., Naidu, S., Schiffmann, R., Blaser, S., Vanderver, A., Wolf, N., & van der Knaap, M. (2016) · Neuropediatrics

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 112

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

van Berge, L., Hamilton, E. M., Linnankivi, T., Uziel, G., Steenweg, M. E., Isohanni, P., Wolf, N. I., Krageloh-Mann, I., Brautaset, N. J., Andrews, P. I., et al. (2014) · Brain

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 109

Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations

Visser, W. E., Jansen, J., Friesema, E. C. H., Kester, M. H. A., Mancilla, E., Lundgren, J., van der Knaap, M. S., Lunsing, R. J., Brouwer, O. F., & Visser, T. J. (2009) · Human Mutation

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 75

Human post-mortem organotypic brain slice cultures: a tool to study pathomechanisms and test therapies

Plug, B. C., Revers, I. M., Breur, M., González, G. M., Timmerman, J. A., Meijns, N. R. C., Hamberg, D., Wagendorp, J., Nutma, E., Wolf, N. I., et al. (2024) · Acta Neuropathologica Communications

Neurological Disease Mechanisms and TreatmentsNeuroscience and Neuropharmacology Research

Cited by 25

Treatment of leukodystrophies: Advances and challenges.

Wolf, N. I., van der Knaap, M. S., & Engelen, M. (2025) · European Journal of Paediatric Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 11