Marjo S. van der Knaap

Research interests

Publications

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

  Acta Neuropathologica · 2017 · https://doi.org/10.1007/s00401-017-1739-1

• Ubiquitous L1 Mosaicism in Hippocampal Neurons

  Cell · 2015 · https://doi.org/10.1016/j.cell.2015.03.026

• Case definition and classification of leukodystrophies and leukoencephalopathies

  Molecular Genetics and Metabolism · 2015 · https://doi.org/10.1016/j.ymgme.2015.01.006

• Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

  Neurology · 2014 · https://doi.org/10.1212/wnl.0000000000001002

• Novel (ovario) leukodystrophy related to AARS2 mutations

  Neurology · 2014 · https://doi.org/10.1212/wnl.0000000000000497

• Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study

  Human Mutation · 2011 · https://doi.org/10.1002/humu.22016

• Magnetic resonance imaging pattern recognition in hypomyelinating disorders

  Brain · 2010 · https://doi.org/10.1093/brain/awq257

• Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2

  The American Journal of Human Genetics · 2009 · https://doi.org/10.1016/j.ajhg.2008.12.009

• Invited Article: An MRI-based approach to the diagnosis of white matter disorders

  Neurology · 2009 · https://doi.org/10.1212/01.wnl.0000343049.00540.c8

• Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

  Nature Genetics · 2009 · https://doi.org/10.1038/ng.373

• Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

  The American Journal of Human Genetics · 2007 · https://doi.org/10.1086/521373

• Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

  Nature Genetics · 2007 · https://doi.org/10.1038/ng2013

• Magnetic Resonance of Myelination and Myelin Disorders

  Journal · 2005 · https://doi.org/10.1007/3-540-27660-2

• Mutations in Col4a1 Cause Perinatal Cerebral Hemorrhage and Porencephaly

  Science · 2005 · https://doi.org/10.1126/science.1109418

• Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter

  Annals of Neurology · 2001 · https://doi.org/10.1002/ana.10112

• Alexander disease: diagnosis with MR imaging.

  PubMed · 2001

• Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter

  Nature Genetics · 2001 · https://doi.org/10.1038/ng764

• A new leukoencephalopathy with vanishing white matter

  Neurology · 1997 · https://doi.org/10.1212/wnl.48.4.845

• Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children

  Annals of Neurology · 1995 · https://doi.org/10.1002/ana.410370308

• Age-dependent changes in localized proton and phosphorus MR spectroscopy of the brain.

  Radiology · 1990 · https://doi.org/10.1148/radiology.176.2.2164237

• Magnetic Resonance of Myelin, Myelination, and Myelin Disorders

  Journal · 1989 · https://doi.org/10.1007/978-3-662-02568-0

Current projects

No projects listed.