Marjo van der Knaap

PROF.DR., (Principal Investigator)

19992019
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Research Output 1999 2019

2015

Interferon-alpha and the calcifying microangiopathy in Aicardi-Goutieres syndrome

Klok, M. D., Bakels, H. S., Postma, N. L., van Spaendonk, R. M. L., van der Knaap, M. S. & Bugiani, M., 2015, In : Annals of Clinical and Translational Neurology. 2, 7, p. 774-779

Research output: Contribution to journalArticleAcademicpeer-review

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

Gutierrez, M., Thiffault, I., Guerrero, K., Martos-Moreno, G. A., Tran, L. T., Benko, W., Knaap, M., van Spaendonk, R. M. L., Wolf, N. I. & Bernard, G., 2015, In : Orphanet Journal of Rare Diseases. 10, 69.

Research output: Contribution to journalArticleAcademicpeer-review

Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle

Dubey, M., Bugiani, M., Ridder, M. C., Postma, N. L., Brouwers, E., Polder, E., Jacobs, J. G., Baaijen, J. C., Klooster, J., Kamermans, M., Aardse, R., de Kock, C. P. J., Dekker, M. P., van Weering, J. R. T., Heine, V. M., Abbink, T. E. M., Scheper, G. C., Boor, P. K. I., Lodder, J. C., Mansvelder, H. D. & 1 othersKnaap, M., 2015, In : Annals of Neurology. 77, 11, p. 114-131

Research output: Contribution to journalArticleAcademicpeer-review

POLR3A and POLR3B Mutations in Unclassified Hypomyelination

Cayami, F. K., La Piana, R., van Spaendonk, R. M. L., Nickel, M., Bley, A., Guerrero, K., Tran, L. T., Knaap, M., Bernard, G. & Wolf, N. I., 2015, In : Neuropediatrics. 46, 3, p. 221-227

Research output: Contribution to journalArticleAcademicpeer-review

Recessive ITPA Mutations Cause an Early Infantile Encephalopathy

Kevelam, S. H., Bierau, J., Salvarinova, R., Agrawal, S., Honzik, T., Visser, D., Weiss, M. M., Salomons, G., Abbink, T. E. M., Waisfisz, Q. & van der Knaap, M. S., 2015, In : Annals of Neurology. 78, 4, p. 649-658

Research output: Contribution to journalArticleAcademicpeer-review

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

Thiffault, I., Wolf, N. I., Forget, D., Guerrero, K., Tran, L. T., Choquet, K., Lavalleee-Adam, M., Poitras, C., Brais, B., Yoon, G., Sztriha, L., Webster, R. I., Timmann, D., de Warrenburg, B. P. V., Seeger, J., Zimmermann, A., Mate, A., Goizet, C., Fung, E., van der Knaap, M. S. & 7 othersFribourg, S., Vanderver, A., Simons, C., Taft, R. J., Yates, J. R., Coulombe, B. & Bernard, G., 2015, In : Nature Communications. 6, 7623.

Research output: Contribution to journalArticleAcademicpeer-review

Secondary paroxysmal kinesigenic dyskinesia associated with CLCN2 gene mutation

Hanagasi, H. A., Bilgic, B., Abbink, T. E. M., Hanagasi, F., Tufekcioglu, Z., Gurvit, H., Basak, N., van der Knaap, M. S. & Emre, M., 2015, In : Parkinsonism and Related Disorders. 21, 5, p. 544-546

Research output: Contribution to journalArticleAcademicpeer-review

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature

Meuwissen, M. E. C., Halley, D. J. J., Smit, L. S., Lequin, M. H., Cobben, J. M., de Coo, R., van Harssel, J., Sallevelt, S., Woldringh, G., van der Knaap, M. S., de Vries, L. S. & Mancini, G. M. S., 2015, In : Genetics in Medicine. 17, 11, p. 843-853

Research output: Contribution to journalArticleAcademicpeer-review

Ubiquitous L1 Mosaicism in Hippocampal Neurons

Upton, K. R., Gerhardt, D. J., Jesuadian, J. S., Richardson, S. R., Sanchez-Luque, F. J., Bodea, G. O., Ewing, A. D., Salvador-Palomeque, C., van der Knaap, M. S., Brennan, P. M., Vanderver, A. & Faulkner, G. J., 2015, In : Cell. 161, 2, p. 228-239

Research output: Contribution to journalArticleAcademicpeer-review

53 Downloads (Pure)

Vanishing white matter: A study of phenotypic variation and the relationship between genotype and phenotype

van der Lei, H. D. W., 2015

Research output: ThesisResearch VU University Amsterdam, graduation VU University AmsterdamAcademic

File

Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy

Tillema, J. M., Derks, M. G. M., Pouwels, P. J. W., de Graaf, P., van Rappard, D. F., Barkhof, F., Steenweg, M. E., van der Knaap, M. S. & Wolf, N. I., 2015, In : Annals of Clinical and Translational Neurology. 2, 9, p. 932-940

Research output: Contribution to journalArticleAcademicpeer-review

2014

A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy

Kashani, A., Thiffault, I., Dilenge, M. E., Saint-Martin, C., Guerrero, K., Tran, L. T., Shoubridge, E., van der Knaap, M. S., Braverman, N. & Bernard, G., 2014, In : Neurogenetics. 15, 3, p. 161-164

Research output: Contribution to journalArticleAcademicpeer-review

Cerebral Organic Acidurias

Kolker, S., Struijs, E. A., van der Knaap, M. S. & Jakobs, C. A. J. M., 2014, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Berlin Heidelberg: Springer, p. 143-156

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Childhood Lymphomatoid Granulomatosis: A Report of 2 Cases and Review of the Literature

Tacke, Z. C. A., Eikelenboom, M. J., Vermeulen, R. J., van der Knaap, M. S., Euser, A. M., van der Valk, P. & Kaspers, G. J. L., 2014, In : Journal of Pediatric Hematology / Oncology. 36, 7, p. E416-E422

Research output: Contribution to journalArticleAcademicpeer-review

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

Wolf, N. I., Vanderver, A., van Spaendonk, R. M. L., Schiffmann, R., Brais, B., Bugiani, M., Sistermans, E. A., Catsman-Berrevoets, C., Kros, J. M., Pinto, P. S., Pohl, D., Tirupathi, S., Stromme, P., de Grauw, T., Fribourg, S., Demos, M., Pizzino, A., Naidu, S., Guerrero, K., van der Knaap, M. S. & 1 othersBernard, G., 2014, In : Neurology. 83, 21, p. 1898-1905

Research output: Contribution to journalArticleAcademicpeer-review

Diffuse leukoencephalopathy with spheroids: Biopsy findings and a novel mutation

Levi, J., Tiedt, S., Arzberger, T., Biskup, S., Schuberth, M., Stenglein-Krapf, G., Kreth, F. W., Hogen, T., la Fougere, C., Linn, J., van der Knaap, M. S., Giese, A., Kretzschmar, H. A. & Danek, A., 2014, In : Clinical Neurology and Neurosurgery. 122, p. 113-115

Research output: Contribution to journalArticleAcademicpeer-review

Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene

Blumkin, L., Halevy, A., Ben-Ami-Raichman, D., Dahari, D., Haviv, A., Sarit, C., Lev, D., van der Knaap, M. S., Lerman-Sagie, T. & Leshinsky-Silver, E., 2014, In : Neurogenetics. 15, 2, p. 107-113

Research output: Contribution to journalArticleAcademicpeer-review

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation

Hamilton, E. M. C., Polder, E., Vanderver, A., Naidu, S., Schiffmann, R., Fisher, K., Raguz, A. B., Blumkin, L., van Berkel, C. G. M., Waisfisz, Q., Simons, C., Taft, R. J., Abbink, G. E. M., Wolf, N. I. & van der Knaap, M. S., 2014, In : Brain. 137, p. 1921-1930

Research output: Contribution to journalArticleAcademicpeer-review

Lama2 Mutations in Adult- Onset Muscular Dystrophy with Leukoencephalopathy

Kevelam, S. H. G., van Engelen, B. G. M., van Berkel, C. G. M., Kusters, B. & van der Knaap, M. S., 2014, In : Muscle and Nerve. 49, 4, p. 616-617

Research output: Contribution to journalArticleAcademicpeer-review

Leukodytstophy overview

Vanderver, A., Tonduti, D., Schiffmann, R., Schmidt, J. & van der Knaap, M. S., 2014, GeneReviews® [Internet]. Seattle (WA): University of Washington

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

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

van Berge, L., Hamilton, EMC., Linnankivi, T., Uziel, G., Steenweg, M. E., Isohanni, P., Wolf, NI., Krägeloh-Mann, I., Brautaset, N. J., Andrews, P. I., de Jong, BA., al Ghamdi, M., van Wieringen, W. N., Tannous, B. A., Hulleman, E., Würdinger, T., van Berkel, C. G. M., Polder, E., Abbink, TE., Struys, E. A. & 2 othersScheper, GC. & van der Knaap, MS., 2014, In : Brain. 137

Research output: Contribution to journalArticleAcademicpeer-review

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

van Berge, L., Hamilton, E. M. C., Linnankivi, T., Uziel, G., Steenweg, M. E., Isohanni, P., Wolf, N. I., Krageloh-Mann, I., Brautaset, N. J., Andrews, P. I., Jong, B. A., al Ghamdi, M., van Wieringen, W. N., Tannous, B. A., Hulleman, E., Wurdinger, T., van Berkel, C. G. M., Polder, E., Abbink, T. E. M., Struys, E. A. & 2 othersScheper, G. C. & van der Knaap, M. S., 2014, In : Brain. 137, p. 1019-1029

Research output: Contribution to journalArticleAcademicpeer-review

27 Downloads (Pure)

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation: Molecular mechanisms, clinical aspects and opening for treatment

van Berge, L., 2014

Research output: ThesisResearch VU University Amsterdam, graduation VU University AmsterdamAcademic

File

Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus

Livingston, J. H., Mayer, J., Jenkinson, E., Kasher, P., Stivaros, S., Berger, A., Cordelli, D. M., Ferreira, P., Jefferson, R., Kutschke, G., Lundberg, S., Ounap, K., Prabhakar, P., Soh, C., Stewart, H., Stone, J., van der Knaap, M. S., Van Esch, H., van Mol, C., Wakeling, E. & 3 othersWhitney, A., Rice, G. I. & Crow, Y. J., 2014, In : Neuropediatrics. 45, 3, p. 175-182

Research output: Contribution to journalArticleAcademicpeer-review

Mutations in APOPT1, Encoding a Mitochondria! Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

Melchionda, L., Haack, T. B., Hardy, S., Abbink, G. E. M., Fernandez-Vizarra, E., Lamantea, E., Marchet, S., Morandi, L., Moggio, M., Carrozzo, R., Torraco, A., Diodato, D., Strom, T. M., Meitinger, T., Tekturk, P., Yapici, Z., Al-Murshedi, F., Stevens, R., Rodenburg, R. J., Lamperti, C. & 9 othersArdissone, A., Moroni, I., Uziel, G., Prokisch, H., Taylor, R. W., Bertini, E., van der Knaap, M. S., Ghezzi, D. & Zeviani, M., 2014, In : American journal of human genetics. 95, 3, p. 315-325

Research output: Contribution to journalArticleAcademicpeer-review

Mutations in RARS Cause Hypomyelination

Wolf, N. I., Salomons, G. S., Rodenburg, R. J., Pouwels, P. J. W., Schieving, J. H., Derks, T. G. J., Fock, J. M., Rump, P., van Beek, D. M., van der Knaap, M. S. & Waisfisz, Q., 2014, In : Annals of Neurology. 76, 1, p. 134-139

Research output: Contribution to journalArticleAcademicpeer-review

Novel (ovario) leukodystrophy related to AARS2 mutations

Dallabona, C., Diodato, D., Kevelam, S. H., Haack, T. B., Wong, L. J., Salomons, G. S., Baruffini, E., Melchionda, L., Mariotti, C., Strom, T. M., Meitinger, T., Prokisch, H., Chapman, K., Colley, A., Rocha, H., Ounap, K., Schiffmann, R., Salsano, E., Savoiardo, M., Hamilton, E. M. C. & 8 othersAbbink, G. E. M., Wolf, N. I., Ferrero, I., Lamperti, C., Zeviani, M., Vanderver, A., Ghezzi, D. & van der Knaap, M. S., 2014, In : Neurology. 82, 23, p. 2063-2071

Research output: Contribution to journalArticleAcademicpeer-review

Reply: DARS2 gene clinical spectrum: new ideas regarding an underdiagnosed leukoencephalopathy

van der Knaap, M. S., Hamilton, E. M. C. & van Berge, L., 2014, In : Brain. 137, 7, e290.

Research output: Contribution to journalArticleAcademicpeer-review

Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

van der Knaap, M. S. & Kevelam, S. H. G., 2014, In : Brain. 137, p. e297

Research output: Contribution to journalArticleAcademicpeer-review

Reply to: The many faces of TUBB4A mutations

Blumkin, L., Halevy, A., Ben-Ami-Raichman, D., Dahari, D., Haviv, A., Sarit, C., Lev, D., van der Knaap, M. S., Lerman-Sagie, T. & Leshinsky-Silver, E., 2014, In : Neurogenetics. 15, 2, p. 83-83

Research output: Contribution to journalArticleAcademicpeer-review

TUBB4A de novo mutations cause isolated hypomyelination

Pizzino, A., Pierson, T. M., Guo, Y. R., Helman, G., Fortini, S., Guerrero, K., Saitta, S., Murphy, J. L. P., Padiath, Q., Xie, Y., Hakonarson, H., Xu, X., Funari, T., Fox, M., Taft, R. J., van der Knaap, M. S., Bernard, G., Schiffmann, R., Simons, C. & Vanderver, A., 2014, In : Neurology. 83, 10, p. 898-902

Research output: Contribution to journalArticleAcademicpeer-review

Vanishing white matter disease (CACH syndrome)

Scheper, G. C. & van der Knaap, M. S., 2014, Encyclopedia of the Neurological Sciences. Oxford: Academic Press, p. 595-601

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

2013

A De Novo Mutation in the beta-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

Simons, C., Wolf, N. I., McNeil, N., Caldovic, L., Devaney, J. M., Takanohashi, A., Crawford, J., Ru, K. L., Grimmond, S. M., Miller, D., Tonduti, D., Schmidt, J. L., Chudnow, R. S., van Coster, R., Lagae, L., Kisler, J., Sperner, J., van der Knaap, M. S., Schiffmann, R., Taft, R. J. & 1 othersVanderver, A., 2013, In : American journal of human genetics. 92, 5, p. 767-773

Research output: Contribution to journalArticleAcademicpeer-review

A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations

Ortega-Recalde, O., Fonseca, D. J., Patino, L. C., Atuesta, J. J., Rivera-Nieto, C., Restrepo, C. M., Mateus, H. E., van der Knaap, M. S. & Laissue, P., 2013, In : Mitochondrion. 13, 6, p. 749-754

Research output: Contribution to journalArticleAcademicpeer-review

An unusually mild presentation of megalencephalic leukoencephalopathy with subcortical cysts

Kocaman, G., Eryigit, G., Abbink, G. E. M., Kilicarslan, R., Asil, T., Alkan, A., van der Knaap, M. S. & Kocer, A., 2013, In : Clinical Neurology and Neurosurgery. 115, 8, p. 1564-1566

Research output: Contribution to journalArticleAcademicpeer-review

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

Depienne, C., Bugiani, M., Dupuits, C., Galanaud, D., Touitou, V., Postma, N. L., van Berkel, C. G. M., Polder, E., Tollard, E., Darios, F., Brice, A., de Die-Smulders, C. E., Vles, J. S., Vanderver, A., Uziel, G., Yalcinkaya, C., Frints, S. G., Kalscheuer, V. M., Klooster, J., Kamermans, M. & 4 othersAbbink, G. E. M., Wolf, N. I., Sedel, F. & van der Knaap, M. S., 2013, In : Lancet Neurology. 12, 7, p. 659-668

Research output: Contribution to journalArticleAcademicpeer-review

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2-and L-2-Hydroxyglutaric Aciduria

Nota, B., Struys, E. A., Pop, A., Jansen, E. E., Ojeda, M. R. F., Kanhai, W. A., Kranendijk, M., van Dooren, S. J. M., Bevova, M. R., Sistermans, E. A., Nieuwint, A. W. M., Barth, M., Ben-Omran, T., Hoffmann, G. F., de Lonlay, P., McDonald, M. T., Meberg, A., Muntau, A. C., Nuoffer, J. M., Parini, R. & 8 othersRead, M. H., Renneberg, A., Santer, R., Strahleck, T., van Schaftingen, E., van der Knaap, M. S., Jakobs, C. A. J. M. & Salomons, G. S., 2013, In : American journal of human genetics. 92, 4, p. 627-631

Research output: Contribution to journalArticleAcademicpeer-review

Erratum: Magnetic resonance imaging pattern recognition in hypomyelinating disorders (Brain (2010) 133 (2971-2982) DOI:10.1093/brain/awq257)

Steenweg, M. E., Vanderver, A., Blaser, S., Bizzi, A., De Koning, T. J., Mancini, G. M. S., Van Wieringen, W. N., Barkhof, F., Wolf, N. I. & Van Der Knaap, M. S., 1 Jan 2013, In : Brain. 136, 9, 1 p.

Research output: Contribution to journalComment/Letter to the editorAcademic

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

Kevelam, S. H. G., Bugiani, M., Salomons, G. S., Feigenbaum, A., Blaser, S., Prasad, C., Haberle, J., Baric, I., Bakker, I. M. C., Postma, N. L., Kanhai, W. A., Wolf, N. I., Abbink, G. E. M., Waisfisz, Q., Heutink, P. & van der Knaap, M. S., 2013, In : Brain. 136, 5, p. 1534-1543

Research output: Contribution to journalArticleAcademicpeer-review

Hyaluronan accumulation and arrested oligodendrocyte progenitor maturation in vanishing white matter disease

Bugiani, M., Postma, N. L., Polder, E., Dieleman, N., Scheffer, P. G., Sim, F. J., van der Knaap, M. S. & Boor, P. K. I., 2013, In : Brain. 136, p. 209-222

Research output: Contribution to journalArticleAcademicpeer-review

Improvement of White Matter Changes on Neuroimaging Modalities After Stem Cell Transplant in Metachromatic Leukodystrophy

van Egmond, M. E., Pouwels, P. J. W., Boelens, J. J., Lindemans, C. A., Barkhof, F., Steenwijk, M. D., van Hasselt, P. M., van der Knaap, M. S. & Wolf, N. I., 2013, In : JAMA Neurology. 70, 6, p. 779-782

Research output: Contribution to journalArticleAcademicpeer-review

Infantile-Onset Alexander Disease: A Genetically Proven Case With Mild Clinical Course in a 6-Year-Old Indian Boy

Ramesh, K., Sharma, S., Kumar, A., Salomons, G. S., van der Knaap, M. S. & Gulati, S., 2013, In : Journal of Child Neurology. 28, 3, p. 396-398

Research output: Contribution to journalArticleAcademicpeer-review

Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

Taft, R. J., Vanderver, A., Leventer, R. J., Damiani, S. A., Simons, C., Grimmond, S. M., Miller, D., Schmidt, J., Lockhart, P. J., Pope, K., Ru, K. L., Crawford, J., Rosser, T., de Coo, I. F. M., Juneja, M., Verma, I. C., Prabhakar, P., Blaser, S., Raiman, J., Pouwels, P. J. W. & 4 othersBevova, M. R., Abbink, G. E. M., van der Knaap, M. S. & Wolf, N. I., 2013, In : American journal of human genetics. 92, 5, p. 774-780

Research output: Contribution to journalArticleAcademicpeer-review

Mystery Case: Balo concentric sclerosis

Grooters, G. S., Visser, L. H., Barkhof, F., van der Knaap, M. S. & van Asseldonk, J. T., 2013, In : Neurology. 80, 7, p. E71-E72

Research output: Contribution to journalArticleAcademicpeer-review

Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing

Nota, B., Hamilton, E. M. C., Sie, D. L. S., Ozturk, S., van Dooren, S. J. M., Ojeda, M. R. F., Jakobs, C. A. J. M., Christensen, E., Kirk, E. P., Sykut-Cegielska, J., Lund, A. M., van der Knaap, M. S. & Salomons, G. S., 2013, In : Journal of Medical Genetics. 50, 11, p. 754-759

Research output: Contribution to journalArticleAcademicpeer-review

Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency

Lemmens, R., Maugeri, A., Niessen, H. W. M., Goris, A., Tousseyn, T., Demaerel, P., Corveleyn, A., Robberecht, W., van der Knaap, M. S., Thijs, V. N. & Zwijnenburg, P. J. G., 15 Jan 2013, In : Human Molecular Genetics. 22, 2, p. 391-397 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Novel Hypomyelinating Leukoencephalopathy Affecting Early Myelinating Structures: Clinical Course in Two Brothers

Tonduti, D., Pichiecchio, A., Wolf, N. I., Ariaudo, G., van der Knaap, M. S., Bastianello, S., Balottin, U. & Orcesi, S., 2013, In : Neuropediatrics. 44, 4, p. 213-217

Research output: Contribution to journalArticleAcademicpeer-review

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

Kevelam, S. H. G., Rodenburg, R. J., Wolf, N. I., Ferreira, P., Lunsing, R. J., Nijtmans, L. G., Mitchell, A., Arroyo, H. A., Rating, D., Vanderver, A., van Berkel, C. G. M., Abbink, G. E. M., Heutink, P. & van der Knaap, M. S., 2013, In : Neurology. 80, 17, p. 1577-1583

Research output: Contribution to journalArticleAcademicpeer-review