Marjo van der Knaap

PROF.DR.

19992019
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Research Output 1999 2019

2019

D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants

Pop, A., Struys, E. A., Jansen, E. E. W., Fernandez, M. R., Kanhai, W. A., van Dooren, S. J. M., Ozturk, S., van Oostendorp, J., Lennertz, P., Kranendijk, M., van der Knaap, M. S., Gibson, K. M., van Schaftingen, E. & Salomons, G. S., 2019, In : Human Mutation.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay

Rumping, L., Tessadori, F., Pouwels, P. J. W., Vringer, E., Wijnen, J. P., Bhogal, A. A., Savelberg, S. M. C., Duran, K. J., Bakkers, M. J. G., Ramos, R. B. J. J., Schellekens, P. A. W., Kroes, H. Y., Klomp, D. W. J., Black, G. C. M., Taylor, R. L., Bakkers, J. P. W., Prinsen, H. C. M. T., van der Knaap, M. S., Dansen, T. B., Rehmann, H. & 6 othersZwartkruis, F. J. T., Houwen, R. H. J., van Haaften, G., Verhoeven-Duif, N. M., Jans, J. J. M. & van Hasselt, P. M., 2019, In : Human Molecular Genetics. 28, 1, p. 96-104

Research output: Contribution to journalArticleAcademicpeer-review

Intrathecal baclofen in metachromatic leukodystrophy

Van Der Veldt, N., Van Rappard, D. F., Van De Pol, L. A., Van Der Knaap, M. S., Van Ouwerkerk, W. J., Becher, J. G., Wolf, N. I. & Buizer, A. I., 1 Feb 2019, In : Developmental Medicine and Child Neurology. 61, 2, p. 232-235 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

Severe leukoencephalopathy with clinical recovery caused by recessive BOLA3 mutations

Stutterd, C. A., Lake, N. J., Peters, H., Lockhart, P. J., Taft, R. J., van der Knaap, M. S., Vanderver, A., Thorburn, D. R., Simons, C. & Leventer, R. J., 2019, JIMD Reports. Springer, Vol. 43. p. 63-70 (JIMD Reports).

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

2018

4H Leukodystrophy: Lessons from 3T Imaging

Cayami, F. K., Bugiani, M., Pouwels, P. J. W., Bernard, G., van der Knaap, M. S. & Wolf, N. I., Apr 2018, In : Neuropediatrics. 49, 2, p. 112-117

Research output: Contribution to journalArticleAcademicpeer-review

A brother and sister with intellectual disability and characteristic neuroimaging findings

Hermens, M., van der Knaap, M. S., Kamsteeg, E-J. & Willemsen, M. A., 2018, In : European Journal of Paediatric Neurology. 22, 5, p. 866-869

Research output: Contribution to journalArticleAcademicpeer-review

Adult mouse eIF2Bϵ Arg191His astrocytes display a normal integrated stress response in vitro

Wisse, L. E., ter Braak, T. J., van de Beek, M-C., van Berkel, C. G. M., Wortel, J., Heine, V. M., Proud, C. G., van der Knaap, M. S. & Abbink, T. E. M., 2018, In : Scientific Reports. 8, 1, 3773.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Affected astrocytes in the spinal cord of the leukodystrophy vanishing white matter

Leferink, P. S., Breeuwsma, N., Bugiani, M., van der Knaap, M. S. & Heine, V. M., 1 Apr 2018, In : GLIA. 66, 4, p. 862-873 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

A novel complex neurological phenotype due to a homozygous mutation in FDX2

Gurgel-Giannetti, J., Lynch, D. S., Brandão de Paiva, A. R., Lucato, L. T., Yamamoto, G., Thomsen, C., Basu, S., Freua, F., Giannetti, A. V., Ripa de Assis, B. D., Ospedale Ribeiro, M. D., Barcelos, I., Souza, K. S., Monti, F., Melo, U. S., Amorim, S., Silva, L. G. L., Macedo-Souza, L. C. I., Vianna-Morgante, A. M., Hirano, M. & 6 othersvan der Knaap, M. S., Lill, R., Vainzof, M., Oldfors, A., Houlden, H. & Kok, F., 2018, In : Brain. 141, 8, p. 2289-2298

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Axonal abnormalities in vanishing white matter

Klok, M. D., Bugiani, M., de Vries, S. I., Gerritsen, W., Breur, M., van der Sluis, S., Heine, V. M., Kole, M. H. P., Baron, W. & van der Knaap, M. S., 2018, In : Annals of Clinical and Translational Neurology. 5, 4, p. 429-444

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
Open Access

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

Mendes, M. I., Salazar, M. G., Guerrero, K., Thiffault, I., Salomons, G. S., Gauquelin, L., Tran, L. T., Forget, D., Gauthier, M-S., Waisfisz, Q., Smith, D. E. C., Simons, C., van der Knaap, M. S., Marquardt, I., Lemes, A., Mierzewska, H., Weschke, B., Koehler, W., Coulombe, B., Wolf, N. I. & 1 othersBernard, G., 5 Apr 2018, In : American journal of human genetics. 102, 4, p. 676-684

Research output: Contribution to journalArticleAcademicpeer-review

Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy

Sharma, S., Singh, P., Fernandez-Vizarra, E., Zeviani, M., van der Knaap, M. S. & Saran, R. K., 2018, In : Journal of Child Neurology. 33, 6, p. 428-431

Research output: Contribution to journalArticleAcademicpeer-review

Diffusion tensor imaging in metachromatic leukodystrophy

van Rappard, D. F., Königs, M., Steenweg, M. E., Boelens, J. J., Oosterlaan, J., van der Knaap, M. S., Wolf, N. I. & Pouwels, P. J. W., 1 Mar 2018, In : Journal of Neurology. 265, 3, p. 659-668 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Erratum: LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance (Brain (2016) 139 (782-794) DOI: 10.1093/brain/awv392)

Dallabona, C., Abbink, T. E. M., Carrozzo, R., Torraco, A., Legati, A., van Berkel, C. G. M., Niceta, M., Langella, T., Verrigni, D., Rizza, T., Diodato, D., Piemonte, F., Lamantea, E., Fang, M., Zhang, J., Martinelli, D., Bevivino, E., Dionisi-Vici, C., Vanderver, A., Philip, S. G. & 14 othersKurian, M. A., Verma, I. C., Bijarnia-Mahay, S., Jacinto, S., Furtado, F., Accorsi, P., Ardissone, A., Moroni, I., Ferrero, I., Tartaglia, M., Goffrini, P., Ghezzi, D., van der Knaap, M. S. & Bertini, E., 2018, In : Brain. 141, 11, p. e82

Research output: Contribution to journalErratumAcademicpeer-review

Open Access

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic

Hamanaka, K., Miyatake, S., Zerem, A., Lev, D., Blumkin, L., Yokochi, K., Fujita, A., Imagawa, E., Iwama, K., Nakashima, M., Mitsuhashi, S., Mizuguchi, T., Takata, A., Miyake, N., Saitsu, H., van der Knaap, M. S., Lerman-Sagie, T. & Matsumoto, N., 2018, In : Journal of human genetics. 63, 12, p. 1223-1229

Research output: Contribution to journalArticleAcademicpeer-review

Genetic defects disrupting glial ion and water homeostasis in the brain

Min, R. & van der Knaap, M. S., May 2018, In : Brain Pathology. 28, 3, p. 372-387 16 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Hypomyelination with tooth and bone involvement: New insights: Brain MR imaging and in vitro models

Cayami, F. K., 2018, 186 p.

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

Leukodystrophies — much more than just diseases of myelin

van der Knaap, M. S. & Bugiani, M., 1 Dec 2018, In : Nature Reviews Neurology. 14, 12, p. 747-748 2 p.

Research output: Contribution to journalLetterAcademicpeer-review

Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants

MLC Research Group, 17 Apr 2018, In : Neurology. 90, 16, p. e1395-e1403

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Metachromatic leukodystrophy: Natural evolution and treatment effects

van Rappard, D. F., 2018, 183 p.

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

Mind the Metachromatic leukodystrophy

van Rappard, DF., 10 Apr 2018

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

Ovarioleukodystrophy: Vanishing white matter versus AARS2-related ovarioleukodystrophy

van der Knaap, M. S. & Abbink, T. E. M., 2018, In : Clinical Neurology and Neurosurgery. 171, p. 195

Research output: Contribution to journalComment/Letter to the editorAcademic

Quantitative MR spectroscopic imaging in metachromatic leukodystrophy: value for prognosis and treatment

van Rappard, D. F., Klauser, A., Steenweg, M. E., Boelens, J. J., Bugiani, M., van der Knaap, M. S., Wolf, N. I. & Pouwels, P. J. W., 1 Jan 2018, In : Journal of Neurology, Neurosurgery and Psychiatry. p. 105-111 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot

Simons, C., Dyment, D., van der Knaap, M. S. & Wolf, N. I., 2018, In : Brain. 141, 5, p. e37

Research output: Contribution to journalComment/Letter to the editorAcademic

Report from the Edge of Neuroscience: Investigating an RNA Polymerase III related leukodystrophy using patient-derived iPSCs, neural cells, and mini-brains

Holmes, D., 2018, 158 p.

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

Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene

Peragallo, J. H., Keller, S., van der Knaap, M. S., Soares, B. P. & Shankar, S. P., 2018, In : Ophthalmic Genetics. 39, 1, p. 99-102

Research output: Contribution to journalArticleAcademicpeer-review

Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts

Dubey, M., Brouwers, E., Hamilton, E. M. C., Stiedl, O., Bugiani, M., Koch, H., Kole, M. H. P., Boschert, U., Wykes, R. C., Mansvelder, H. D., van der Knaap, M. S. & Min, R., Mar 2018, In : Annals of Neurology. 83, 3, p. 636-649 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Slowly Progressive Psychiatric Symptoms: Think Metachromatic Leukodystrophy

van Rappard, D. F., de Vries, A. L. C., Oostrom, K. J., Boelens, J. J., Hollak, C. E. M., van der Knaap, M. S. & Wolf, N. I., 2018, In : Journal of the American Academy of Child and Adolescent Psychiatry. 57, 2, p. 86-95

Research output: Contribution to journalEditorialAcademicpeer-review

The natural history of Vanishing White Matter

VWM Research Group, Hamilton, E. M. C., Uitdehaag, B. M. J., Lissenberg-Witte, B. I. & van der Knaap, M. S., 6 Sep 2018, In : Annals of Neurology. 84, 2, p. 274-288

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Towards the molecular mechanism of vanishing white matter

Wisse, L. E., 2018, 214 p.

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

UFM1 founder mutation in the Roma population causes severe variant of Hypomyelination with Atrophy of the Basal ganglia and Cerebellum (H-ABC)

Hamilton, E. M., Bertini, E., Kalaydjieva, L., Morar, B., Dojcakova, D., Diodato, D., Wolf, N., Waisfisz, Q., Abbink, E. & van der Knaap, M. S., Jun 2018, In : European Journal of Neurology. 25, p. 31-32

Research output: Contribution to journalMeeting AbstractAcademic

Vanishing white matter: a leukodystrophy due to astrocytic dysfunction

Bugiani, M., Vuong, C., Breur, M. & van der Knaap, M. S., 2018, In : Brain Pathology. 28, 3, p. 408-421

Research output: Contribution to journalArticleAcademicpeer-review

Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease

Green, L., Berry, I. R., Childs, A. M., Mccullagh, H., Jose, S., Warren, D., Craven, I., Camm, N., Prescott, K., van der Knaap, M. S., Sheridan, E. & Livingston, J. H., 1 Apr 2018, In : Neuropediatrics. 49, 2, p. 118-122 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

2017

4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System

Vrij-Van Den Bos, S., Hol, J. A., La Piana, R., Harting, I., Vanderver, A., Barkhof, F., Cayami, F., Van Wieringen, W. N., Pouwels, P. J. W., Van Der Knaap, M. S., Bernard, G. & Wolf, N. I., 1 Jun 2017, In : Neuropediatrics. 48, 3, p. 152-160 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Alexander Disease: A Leukodystrophy That May Mimic Brain Tumor

Tavasoli, A., Armangue, T., Ho, C. Y., Whitehead, M., Bornhorst, M., Rhee, J., Hwang, E. I., Wells, E. M., Packer, R., Van Der Knaap, M. S., Bugiani, M. & Vanderver, A., 2017, In : Journal of Child Neurology. 32, 2, p. 184-187 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

A mutation in the Tubb4a gene leads to microtubule accumulation with hypomyelination and demyelination

Duncan, I. D., Bugiani, M., Radcliff, A. B., Moran, J. J., Lopez-Anido, C., Duong, P., August, B. K., Wolf, N. I., van der Knaap, M. S. & Svaren, J., 1 May 2017, In : Annals of Neurology. 81, 5, p. 690-702 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

Simons, C., Dyment, D., Bent, S. J., Crawford, J., D'Hooghe, M., Kohlschuetter, A., Venkateswaran, S., Helman, G., Poll-The, B-T., Makowski, C. C., Ito, Y., Kernohan, K., Hartley, T., Waisfisz, Q., Taft, R. J., van der Knaap, M. S. & Wolf, N. I., Dec 2017, In : Brain. 140, p. 3105-3111

Research output: Contribution to journalArticleAcademicpeer-review

Author response: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)

Van Der Knaap, M. S., Bugiani, M. & Kevelam, S. H., 2 May 2017, In : Neurology. 88, 18, p. 1776 1 p.

Research output: Contribution to journalComment/Letter to the editorAcademic

Author response: Acute intermittent porphyria-related leukoencephalopathy

Van Der Knaap, M. S. & Kevelam, S. H., 14 Feb 2017, In : Neurology. 88, 7, p. 718-719 2 p.

Research output: Contribution to journalLetterAcademicpeer-review

Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis

Stelten, B. M. L., van der Knaap, M. S., Wevers, R. A. & Verrips, A., 1 Aug 2017, In : Pediatric Neurology. 73, p. 98-100 3 p.

Research output: Contribution to journalArticleAcademicpeer-review

Childhood white matter disorders: much more than just diseases of myelin

Bugiani, M. & van der Knaap, M. S., 1 Sep 2017, In : Acta Neuropathologica. 134, 3, p. 329-330 2 p.

Research output: Contribution to journalEditorialAcademic

Donor macrophages and remyelination in metachromatic leukodystrophy

Wolf, N., Westerveld, A., van Rappard, D., Breur, M., Vanderver, A., van der Knaap, M. S., Boelens, J. J. & Bugiani, M., Jun 2017, In : GLIA. 65, p. E542-E542

Research output: Contribution to journalMeeting AbstractAcademic

Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG

Schorling, D. C., Rost, S., Lefeber, DI. J., Brady, L., Müller, C. R., Korinthenberg, R., Tarnopolsky, M., Bönnemann, C. G., Rodenburg, R. J., Bugiani, M., Beytia, M., Krüger, M., Van Der Knaap, M. & Kirschner, J., 15 Aug 2017, In : Neurology. 89, 7, p. 657-664 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Epilepsy and abnormal potassium dynamics upon loss of function of the astrocyte specific protein MLC1

Min, R., Dubey, M., Brouwers, E., Hamilton, E. M. C., Stiedl, O., Bugiani, M., Koch, H., Wykes, R. C., Mansvelder, H. D. & van der Knaap, M. S., Jun 2017, In : GLIA. 65, p. E290-E291

Research output: Contribution to journalMeeting AbstractAcademic

Genotype-phenotype correlation in ATAD3A deletions: Not just of scientific relevance

Peeters-Scholte, C. M. P. C. D., Adama Van Scheltema, P. N., Klumper, F. J. C. M., Everwijn, S. M. P., Koopmans, M., Hoffer, M. J. V., Koopmann, T. T., Ruivenkamp, C. A. L., Steggerda, S. J., Van Der Knaap, M. S. & Santen, G. W. E., 1 Nov 2017, In : Brain. 140, 11, p. e66

Research output: Contribution to journalLetterAcademicpeer-review

Identification of 3 Novel Patients with CLCN2-Related Leukoencephalopathy due to CLCN2 Mutations

Zeydan, B., Uygunoglu, U., Altintas, A., Saip, S., Siva, A., Abbink, T. E. M., Van Der Knaap, M. S. & Yalcinkaya, C., 1 Sep 2017, In : European Neurology. 78, 3-4, p. 125-127 3 p.

Research output: Contribution to journalLetterAcademicpeer-review

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

van der Knaap, M. S. & Bugiani, M., 1 Sep 2017, In : Acta Neuropathologica. 134, 3, p. 351-382 32 p.

Research output: Contribution to journalArticleAcademicpeer-review

Megalencephalic leukoencephalopathy with cysts: the Glialcam-null mouse model

Bugiani, M., Dubey, M., Breur, M., Postma, N. L., Dekker, M. P., Ter Braak, T., Boschert, U., Abbink, T. E. M., Mansvelder, H. D., Min, R., van Weering, J. R. T. & van der Knaap, M. S., Jul 2017, In : Annals of Clinical and Translational Neurology. 4, 7, p. 450-465 16 p.

Research output: Contribution to journalArticleAcademicpeer-review

Neonatal detection of Aicardi Goutières Syndrome by increased C26: 0 lysophosphatidylcholine and interferon signature on newborn screening blood spots

Armangue, T., Orsini, J. J., Takanohashi, A., Gavazzi, F., Conant, A., Ulrick, N., Morrissey, M. A., Nahhas, N., Helman, G., Gordish-Dressman, H., Orcesi, S., Tonduti, D., Stutterd, C., van Haren, K., Toro, C., Iglesias, A. D., van der Knaap, M. S., Goldbach Mansky, R., Moser, A. B., Jones, R. O. & 1 othersVanderver, A., 1 Nov 2017, In : Molecular Genetics and Metabolism. 122, 3, p. 134-139 6 p.

Research output: Contribution to journalArticleAcademicpeer-review