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Marjo S. van der Knaap

Marjo S. van der Knaap

D-Index & Metrics

Medicine

D-Index
106
Citations
37663
World Ranking
6587
National Ranking
253

Research.com Recognitions

  • 2010 - Royal Netherlands Academy of Arts and Sciences
  • 2008 - Spinoza Prize, Dutch Research Council

Overview

Marjo S. van der Knaap is affiliated with Amsterdam UMC in the Netherlands and has a substantial publication record in the fields of biochemistry, genetics, molecular biology, and medicine. Their research focuses heavily on molecular biology, neurology, physiology, immunology, and clinical biochemistry.

The scientist's work extensively covers topics such as RNA regulation and disease, neuroinflammation and neurodegeneration mechanisms, RNA research and splicing, lysosomal storage disorders research, RNA and protein synthesis mechanisms, metabolism and genetic disorders, and RNA modifications and cancer.

Frequent co-authors contributing to their research include Nicole I. Wolf, Marianna Bugiani, Adeline Vanderver, Truus E. M. Abbink, and Marjolein Breur.

The venues where van der Knaap has published most actively include:

  • Annals of Clinical and Translational Neurology
  • Brain
  • Neuropediatrics
  • Annals of Neurology
  • Orphanet Journal of Rare Diseases

Some of the recent papers authored or co-authored by van der Knaap are:

  • "Hypomyelinating leukodystrophies - unravelling myelin biology," 2020, published in Nature Reviews Neurology
  • "Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study," 2020, published in The Lancet Diabetes & Endocrinology
  • "Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction," 2020, published in Annals of Clinical and Translational Neurology
  • "Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus," 2020, published in Med
  • "Heterogeneity of white matter astrocytes in the human brain," 2021, published in Acta Neuropathologica

Van der Knaap has been recognized with awards including membership in the Royal Netherlands Academy of Arts and Sciences in 2010, and the Spinoza Prize awarded by the Dutch Research Council in 2008.

Best Publications

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

    Gillian I Rice;Jacquelyn Bond;Aruna Asipu;Rebecca L Brunette

  • Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

    Yanick J. Crow;Diana S. Chase;Johanna Lowenstein Schmidt;Marcin Szynkiewicz

  • Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

    Douglas B. Gould;F. Campbell Phalan;Guido J. Breedveld;Saskia E. van Mil

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

    Raphael Schiffmann;Marjo S. van der Knaap

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

    Gert C Scheper;Thom van der Klok;Rob J van Andel;Carola G M van Berkel

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

    Peter A.J. Leegwater;Gerre Vermeulen;Andrea A.M. Könst;Sakkubai Naidu

  • Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

    Gillian Rice;Teresa Patrick;Rekha Parmar;Claire F Taylor

  • A new leukoencephalopathy with vanishing white matter.

    M. S. van der Knaap;P. G. Barth;F.J.M. Gabreëls;E. Franzoni

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

    Marjo S. van der Knaap;Peter A. J. Leegwater;Andrea A.M. Könst;Allerdien Visser

  • Alexander disease: Diagnosis with MR imaging

    Marjo S. van der Knaap;Sakkubai Naidu;Steven N. Breiter;Susan Blaser

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

    M. S. van der Knaap;P. G. Barth;H. Stroink;O. van Nieuwenhuizen

  • Vanishing white matter disease

    Marjo S van der Knaap;Jan C Pronk;Gert C Scheper

  • Vanishing White Matter Disease

    V. Mejaski-Bosnjak;I. Dakovic;G.C. Scheper;M.S. van der Knaap

  • Translation matters: protein synthesis defects in inherited disease

    Gert C. Scheper;Marjo S. van der Knaap;Christopher G. Proud

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

    Marjo S. van der Knaap;Marianna Bugiani

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

    Derek E. Neilson;Mark D. Adams;Caitlin M D Orr;Deborah K. Schelling

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

    M S van der Knaap;J van der Grond;P C van Rijen;J A Faber

  • Magnetic Resonance of Myelination and Myelin Disorders

    M.S. van der Knaap;J. Valk

  • Progress in understanding 2-hydroxyglutaric acidurias

    Martijn Kranendijk;Eduard A. Struys;Gajja S. Salomons;Marjo S. Van der Knaap

  • Ubiquitous L1 Mosaicism in Hippocampal Neurons

    Kyle R. Upton;Daniel J. Gerhardt;J. Samuel Jesuadian;Sandra R. Richardson

Frequent Co-Authors

Petra J. W. Pouwels
Petra J. W. Pouwels Vrije Universiteit Amsterdam
Ryan J. Taft
Ryan J. Taft Illumina (United States)
Frederik Barkhof
Frederik Barkhof University College London
Quinten Waisfisz
Quinten Waisfisz Vrije Universiteit Amsterdam
Yanick J. Crow
Yanick J. Crow Université Paris Cité
Raphael Schiffmann
Raphael Schiffmann Baylor University
Enrico Bertini
Enrico Bertini Bambino Gesù Children's Hospital
Christopher G. Proud
Christopher G. Proud University of Adelaide
Andrea Rossi
Andrea Rossi University of Verona
Richard J. Rodenburg
Richard J. Rodenburg Radboud University

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