Marjo S. van der Knaap

Author

Amsterdam UMC Location Vrije Universiteit Amsterdam ORCID

Also Known As

Adeline Vanderver, Alessandra D'Amico, Davide Tonduti, M S Van Der Knaap, M S Van der Knaap, M S van der Knaap, M S. van der Knaap, M Van Der Knaap, M van der Knaap, M. Knaap

803

Publications

33.7K

Citations

H-Index

216

Concepts

All Affiliations

Amsterdam UMC Location Vrije Universiteit Amsterdam Amsterdam Neuroscience Vrije Universiteit Amsterdam University of Amsterdam Radboud University Nijmegen

About

Marjo S. van der Knaap is an author at Amsterdam UMC Location Vrije Universiteit Amsterdam specializing in medicine, neuropathology, and neurology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	61	142	12.8K
2	Health Sciences	19	23	1.7K
3	Natural Sciences	5	5	475
4	Arts	2	2	22
5	Engineering	1	1	110

Marjo S. van der Knaap

333

Publications

27.1K

Citations

H-Index

Page 1

	Year	Citations
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response Gillian Rice, Jacquelyn Bond, Aruna Asipu, Nature Genetics AllergyAutoimmune DiseasePathogenesisImmunologyInnate Immune Response	2009	680
Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i> Yanick J. Crow, Diana Chase, Johanna L. Schmidt, American Journal of Medical Genetics Part A	2015	589
Invited Article: An MRI-based approach to the diagnosis of white matter disorders Raphael Schiffmann, Marjo S. van der Knaap Neurology	2009	541
Mutations in <i>Col4a1</i> Cause Perinatal Cerebral Hemorrhage and Porencephaly Douglas B. Gould, F. Campbell Phalan, Guido J. Breedveld, Science Knockout MouseDevelopmental AnomalyMutant MiceMolecular NeuroscienceDevelopmental Biology	2005	523
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, Nature Genetics Amyotrophic Lateral SclerosisMitochondrial FunctionNeurological DisorderMedicinePhysiology	2007	450
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome Gillian Rice, Teresa Patrick, Rekha Parmar, The American Journal of Human Genetics CardiomyopathyHeart FailureCardiorenal SyndromesCardiovascular DiseaseMolecular Phenotype	2007	442
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, Nature Genetics Translational BiologyDisease MechanismWhite MatterPathogenesisImmunology	2001	412
A new leukoencephalopathy with vanishing white matter Marjo S. van der Knaap, P. G. Barth, F.J.M. Gabreëls, Neurology Neurological DisorderWhite MatterClinical NeurologyDiagnosisPathology	1997	390
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, Annals of Neurology	2001	380
Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2 Derek Neilson, Mark D. Adams, Caitlin M.D. Orr, The American Journal of Human Genetics Genetic DisorderPathogenesisNuclear PorePathologyRecurrent Cases	2009	349

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