Marjo van der Knaap

PROF.DR., (Principal Investigator)

19992019
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Research Output 1999 2019

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2019

Astrocyte Subtype Vulnerability in Stem Cell Models of Vanishing White Matter

Leferink, P. S., Dooves, S., Hillen, A. E. J., Watanabe, K., Jacobs, G., Gasparotto, L., Cornelissen-Steijger, P., van der Knaap, M. S. & Heine, V. M., 1 Nov 2019, In : Annals of Neurology. 86

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

van der Knaap, M. S., Bugiani, M., Mendes, M. I., Riley, L. G., Smith, D. E. C., Rudinger-Thirion, J., Frugier, M., Breur, M., Crawford, J., van Gaalen, J., Schouten, M., Willems, M., Waisfisz, Q., Mau-Them, F. T., Rodenburg, R. J., Taft, R. J., Keren, B., Christodoulou, J., Depienne, C., Simons, C. & 2 othersSalomons, G. S. & Mochel, F., 12 Mar 2019, In : Neurology. 92, 11, p. E1225-E1237

Research output: Contribution to journalArticleAcademicpeer-review

Cell Replacement Therapy Improves Pathological Hallmarks in a Mouse Model of Leukodystrophy Vanishing White Matter

Dooves, S., Leferink, P. S., Krabbenborg, S., Breeuwsma, N., Bots, S., Hillen, A. E. J., Jacobs, G., van der Knaap, M. S. & Heine, V. M., 2019, In : Stem Cell Reports. 12, 3, p. 441-450

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA

Kaur, P., Wamelink, M. M. C., van der Knaap, M. S., Girisha, K. M. & Shukla, A., 1 Aug 2019, In : European Journal of Medical Genetics. 62, 8, 103708.

Research output: Contribution to journalArticleAcademicpeer-review

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

Leukoencephalopathy due to variants in GFPT1- associated congenital myasthenic syndrome

Helman, G., Sharma, S., Crawford, J., Patra, B., Jain, P., Bent, S. J., Urtizberea, J. A., Saran, R. K., Taft, R. J., van der Knaap, M. S. & Simons, C., 5 Feb 2019, In : Neurology. 92, 6, p. e587-e593

Research output: Contribution to journalArticleAcademicpeer-review

Vanishing white matter: deregulated integrated stress response as therapy target

Abbink, T. E. M., Wisse, L. E., Jaku, E., Thiecke, M. J., Voltolini-González, D., Fritsen, H., Bobeldijk, S., ter Braak, T. J., Polder, E., Postma, N. L., Bugiani, M., Struijs, E. A., Verheijen, M., Straat, N., van der Sluis, S., Thomas, A. A. M., Molenaar, D. & van der Knaap, M. S., 1 Jan 2019, In : Annals of Clinical and Translational Neurology. 6, 8, p. 1407-1422 16 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
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

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

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

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

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

The natural history of Vanishing White Matter

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

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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

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

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

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

Postmortem Whole Exome Sequencing Identifies Novel EIF2B3 Mutation with Prenatal Phenotype in 2 Siblings

Song, H., Haeri, S., Vogel, H., Van Der Knaap, M. & Van Haren, K., 1 Sep 2017, In : Journal of Child Neurology. 32, 10, p. 867-870 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

Proteomic and metabolomic analyses of vanishing white matter mouse astrocytes reveal deregulation of ER functions

Wisse, L. E., Penning, R., Zaal, E. A., van Berkel, C. G. M., ter Braak, T. J., Polder, E., Kenney, J. W., Proud, C. G., Berkers, C. R., Altelaar, M. A. F., Speijer, D., van der Knaap, M. S. & Abbink, T. E. M., 20 Dec 2017, In : Frontiers in Cellular Neuroscience. 11, 411.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes

Curiel, J., Bey, G. R., Takanohashi, A., Bugiani, M., Fu, X., Wolf, N. I., Nmezi, B., Schiffmann, R., Bugaighis, M., Pierson, T., Helman, G., Simons, C., van der Knaap, M. S., Liu, J., Padiath, Q. & Vanderver, A., 2017, In : Human Molecular Genetics. 26, 22, p. 4506-4518 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC

Hamilton, E. M. C., Bertini, E., Kalaydjieva, L., Morar, B., Dojčáková, D., Liu, J., Vanderver, A., Curiel, J., Persoon, C. M., Diodato, D., Pinelli, L., Van Der Meij, N. L., Plecko, B., Blaser, S., Wolf, N. I., Waisfisz, Q., Abbink, T. E. M. & Van Der Knaap, M. S., 24 Oct 2017, In : Neurology. 89, 17, p. 1821-1828 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

2016

Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL

Kevelam, S. H., Klouwer, F. C. C., Fock, J. M., Salomons, G. S., Bugiani, M. & van der Knaap, M. S., Jan 2016, In : Neuropediatrics. 47, 1, p. 64-67

Research output: Contribution to journalArticleAcademicpeer-review

Acute intermittent porphyria-related leukoencephalopathy

Kevelam, S. H., Neeleman, R. A., Waisfisz, Q., Friesema, E. C. H., Langendonk, J. G. & Van Der Knaap, M. S., 20 Sep 2016, In : Neurology. 87, 12, p. 1258-1265 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Astrocytes are central in the pathomechanisms of vanishing white matter

Dooves, S., Bugiani, M., Postma, N. L., Polder, E., Land, N., Horan, S. T., van Deijk, A-L. F., van de Kreeke, A., Jacobs, G., Jacobs, G., Vuong, C., Klooster, J., Kamermans, M., Wortel, J., Loos, M., Wisse, L. E., Scheper, G. C., Abbink, T. E. M., Heine, V. M. & van der Knaap, M. S., Apr 2016, In : Journal of Clinical Investigation. 126, 4, p. 1512-1524

Research output: Contribution to journalArticleAcademicpeer-review

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

Bugiani, M., Kevelam, S. H., Bakels, H. S., Waisfisz, Q., Ceuterick-de Groote, C., Niessen, H. W. M., Abbink, T. E. M., Oberstein, S. A. M. J. L. & van der Knaap, M. S., 25 Oct 2016, In : Neurology. 87, 17, p. 1777-1786 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Diffuse hypomyelination is not obligate for POLR3-related disorders

La Piana, R., Cayami, F. K., Tran, L. T., Guerrero, K., van Spaendonk, R., Ounap, K., Pajusalu, S., Haack, T., Wassmer, E., Timmann, D., Mierzewska, H., Poll-The, B. T., Patel, C., Cox, H., Atik, T., Onay, H., Ozkinay, F., Vanderver, A., van der Knaap, M. S., Wolf, N. I. & 1 othersBernard, G., 26 Apr 2016, In : Neurology. 86, 17, p. 1622-1626

Research output: Contribution to journalArticleAcademicpeer-review

Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience

van Rappard, D. F., Boelens, J. J., van Egmond, M. E., Kuball, J., van Hasselt, P. M., Oostrom, K. J., Pouwels, P. J. W., van der Knaap, M. S., Hollak, C. E. M. & Wolf, N. I., 16 Jun 2016, In : Blood. 127, 24, p. 3098-3101

Research output: Contribution to journalArticleAcademicpeer-review

Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy

van Rappard, D. F., Bugiani, M., Boelens, J. J., van der Steeg, A., Daams, F., de Meij, T. G. J., van Doorn, M. M. A. C., van Hasselt, P. M., Gouma, D. J., Verbeke, J. I. M. L., Hollak, C. E. M., van Hecke, W., Salomons, G. S., van der Knaap, M. & Wolf, N. I., 5 Jul 2016, In : Neurology. 87, 1, p. 103-111

Research output: Contribution to journalArticleAcademicpeer-review

Leukodystrophies and genetic leukoencephalopathies in childhood: a national epidemiological study

Stellitano, L. A., Winstone, A. M., van der Knaap, M. S. & Verity, C. M., 1 Jul 2016, In : Developmental Medicine and Child Neurology. 58, 7, p. 680-689 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

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., 1 Mar 2016, In : Brain. 139, p. 782-794

Research output: Contribution to journalArticleAcademicpeer-review