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  • M.S. van der Knaap
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., Nov 2019, In : Annals of Neurology. 86, 5, p. 780-792 13 p.

Research output: Contribution to JournalArticle

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 others, Salomons, G. S. & Mochel, F., 12 Mar 2019, In : Neurology. 92, 11, p. E1225-E1237 13 p.

Research output: Contribution to JournalArticle

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., 5 Mar 2019, In : Stem cell reports. 12, 3, p. 441-450 10 p.

Research output: Contribution to JournalArticle

Open Access

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 7 p.

Research output: Contribution to JournalArticle

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. Morava, E. (ed.). Springer, p. 63-70 8 p. (JIMD Reports; vol. 43).

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

2018

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., 28 Feb 2018, In : Scientific Reports. 8, 1, p. 1-9 9 p., 3773.

Research output: Contribution to JournalArticle

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., Apr 2018, In : Glia. 66, 4, p. 862-873 12 p.

Research output: Contribution to JournalArticle

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., 1 Apr 2018, In : Annals of Clinical and Translational Neurology. 5, 4, p. 429-444 16 p.

Research output: Contribution to JournalArticle

Open Access

Bergmann glia translocation: a new disease marker for vanishing white matter identifies therapeutic effects of Guanabenz treatment

Dooves, S., Bugiani, M., Wisse, L. E., Abbink, T. E. M., van der Knaap, M. S. & Heine, V. M., Jun 2018, In : Neuropathology and Applied Neurobiology. 44, 4, p. 391-403 13 p.

Research output: Contribution to JournalArticle

Open Access

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

Mendes, M. I., Gutierrez Salazar, M., 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 others, Bernard, G., 5 Apr 2018, In : American Journal of Human Genetics. 102, 4, p. 676-684 9 p.

Research output: Contribution to JournalArticle

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., Mar 2018, In : Journal of Neurology. 265, 3, p. 659-668 10 p.

Research output: Contribution to JournalArticle

Open Access

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 JournalArticle

Open Access

Leukodystrophies — much more than just diseases of myelin

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

Research output: Contribution to JournalLetter

Natural History of Vanishing White Matter

Hamilton, E. M. C., van der Lei, H. D. W., Vermeulen, G., Gerver, J. A. M., Lourenço, C. M., Naidu, S., Mierzewska, H., Gemke, R. J. B. J., de Vet, H. C. W., Uitdehaag, B. M. J., Lissenberg-Witte, B. I., Research Group, V. W. M. & van der Knaap, M. S., Aug 2018, In : Annals of Neurology. 84, 2, p. 274-288 15 p.

Research output: Contribution to JournalArticle

Open Access

Ovarioleukodystrophy: Vanishing white matter versus AARS2-related ovarioleukodystrophy

van der Knaap, M. S. & Abbink, T. E. M., Aug 2018, In : Clinical Neurology and Neurosurgery. 171, 1 p.

Research output: Contribution to JournalLetter

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., 1 May 2018, In : Brain. 141, 5, p. 1-2 2 p., e37.

Research output: Contribution to JournalLetter

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 JournalArticle

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., 1 Feb 2018, In : Journal of the American Academy of Child and Adolescent Psychiatry. 57, 2, p. 86-95 10 p.

Research output: Contribution to JournalEditorial

2017

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 JournalReview article

Open Access

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 JournalArticle

Open Access

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 JournalArticle

Open Access
2016

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, J. G., Vuong, C., Klooster, J., Kamermans, M., Wortel, J., Loos, M., Wisse, L. E., Scheper, G. C., Abbink, G. E. M., Heine, V. M. & Knaap, M., 2016, In : Journal of Clinical Investigation. 126, p. 1512-1524 4.

Research output: Contribution to JournalArticle

Open Access

Leukodystrophies: Five new things.

Knaap, M., Wolf, N. & Heine, V. M., 2016, In : Neurology: Clinical Practice. 6, 6, p. 506-514 9 p.

Research output: Contribution to JournalArticle

Stem cell therapy for white matter disorders: don't forget the microenvironment!

Dooves, S., Knaap, M. & Heine, V. M., 2016, In : Journal of Inherited Metabolic Disease. 39, p. 513-518 4.

Research output: Contribution to JournalArticle

Open Access
2015

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

Parikh, S., Bernard, G., Leventer, R. J., van der Knaap, M. S., ten Hove, J., Pizzino, A., McNeill, N. H., Helman, G., Simons, C., Schmidt, J. L., Rizzo, W. B., Patterson, M. C., Taft, R. J. & Vanderver, A., 2015, In : Molecular Genetics and Metabolism. 114, 4, p. 501-515

Research output: Contribution to JournalArticle

Altered PLP1 splicing causes hypomyelination of early myelinating structures

Kevelam, S. H., Taube, J. R., van Spaendonk, R. M. L., Bertini, E., Sperle, K., Tarnopolsky, M., Tonduti, D., Valente, E. M., Travaglini, L., Sistermans, E. A., Bernard, G., Catsman-Berrevoets, C. E., van Karnebeek, C. D. M., Ostergaard, J. R., Friederich, R. L., Elsaid, M. F., Schieving, J. H., Tarailo-Graovac, M., Orcesi, S., Steenweg, M. E. & 6 others, van Berkel, C. G. M., Waisfisz, Q., Abbink, G. E. M., Knaap, M., Hobson, G. M. & Wolf, N. I., 2015, In : Annals of Clinical and Translational Neurology. 2, 6, p. 648-661

Research output: Contribution to JournalArticle

Open Access

Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?

van der Pol, R. J., Benninga, M., Magre, J., van Maldergem, L., Rotteveel, J., van der Knaap, M. S. & de Meij, T. G. J., 2015, In : European Journal of Pediatrics. 174, 7, p. 975-980

Research output: Contribution to JournalArticle

Open Access

Case definition and classification of leukodystrophies and leukoencephalopathies

Vanderver, A., Prust, M., Tonduti, D., Mochel, F., Hussey, H. M., Helman, G., Garbern, J., Eichler, F., Labauge, P., Aubourg, P., Rodriguez, D., Patterson, M. C., van Hove, J. LK., Schmidt, J., Wolf, N. I., Boespflug-Tanguy, O., Schiffmann, R. & van der Knaap, M. S., 2015, In : Molecular Genetics and Metabolism. 114, 4, p. 494-500

Research output: Contribution to JournalArticle

Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

Crow, Y. J., Chase, D. S., Schmidt, J. L., Szynkiewicz, M., Forte, G. M. A., Gornall, H. L., Oojageer, A., Anderson, B., Pizzino, A., Helman, G., Abdel-Hamid, M. S., Abdel-Salam, G. M., Ackroyd, S., Aeby, A., Agosta, G., Albin, C., Allon-Shalev, S., Arellano, M., Ariaudo, G., Aswani, V. & 82 others, Babul-Hirji, R., Baildam, E. M., Bahi-Buisson, N., Bailey, K. M., Barnerias, C., Barth, M., Battini, R., Beresford, M. W., Bernard, G., Bianchi, M., de Villemeur, T. B., Blair, E. M., Bloom, M., Burlina, A. B., Carpanelli, M. L., Carvalho, D. R., Castro-Gago, M., Cavallini, A., Cereda, C., Chandler, K. E., Chitayat, D. A., Collins, A. E., Corcoles, C. S., Cordeiro, N. J. V., Crichiutti, G., Dabydeen, L., Dale, R. C., D'Arrigo, S., De Goede, C. G. E. L., de Laet, C., De Waele, L. M. H., Denzler, I., Desguerre, I., Devriendt, K., Di Rocco, M., Fahey, M. C., Fazzi, E., Ferrie, C. D., Figueiredo, A., Gener, B., Goizet, C., Gowrinathan, N. R., Gowrishankar, K., Hanrahan, D., Isidor, B., Kara, L., Khan, N., King, M. D., Kirk, E. P., Kumar, R., Lagae, L., Landrieu, P., Lauffer, H., Laugel, V., La Piana, R., Lim, M. J., Lin, J. P. S. M., Linnankivi, T., Mackay, M. T., Marom, D. R., Lourenco, C. M., McKee, S. A., Moroni, I., Morton, J. E. V., Moutard, M. L., Murray, K., Nabbout, R., Nampoothiri, S., Nunez-Enamorado, N., Oades, P. J., Olivieri, I., Ostergaard, J. R., Perez-Duenas, B., Prendiville, J. S., Ramesh, V., Rasmussen, M., Regal, L., Ricci, F., Rio, M., Knaap, M., Orcesi, S. & Rice, G. I., 2015, In : American Journal of Medical Genetics Part A. 167, 2, p. 296-312

Research output: Contribution to JournalArticle

CLCN2-Related Leukoencephalopathy

Knaap, M., Depienne, C., Sedel, F. & Abbink, T. E. M., 2015, GeneReviews® [internet]. Pagon, R. A., Adam, M. P. & Ardinger, H. H. (eds.). Seattle (WA): University of Washington

Research output: Chapter in Book / Report / Conference proceedingChapterAcademic

CSF and Blood Levels of GFAP in Alexander Disease

Jany, P. L., Agosta, G. E., Benko, W. S., Eickhoff, J. C., Keller, S. R., Koehler, W., Koeller, D., Mar, S., Naidu, S., Marie Ness, J., Pareyson, D., Renaud, D. L., Salsano, E., Schiffmann, R., Simon, J., Vanderver, A., Eichler, F., van der Knaap, M. S. & Messing, A., 2015, In : eNeuro. 2, 5

Research output: Contribution to JournalArticle

Open Access

DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder

Wolf, N. I., Toro, C., Kister, I., Abd Latif, K., Leventer, R., Pizzino, A., Simons, C., Abbink, G. E. M., Taft, R. J., van der Knaap, M. S. & Vanderver, A., 2015, In : Neurology. 84, 3, p. 226-230

Research output: Contribution to JournalArticle

Disease specific therapies in leukodystrophies and leukoencephalopathies

Helman, G., van Haren, K., Bonkowsky, J. L., Bernard, G., Pizzino, A., Braverman, N., Suhr, D., Patterson, M. C., Fatemi, S. A., Leonard, J., van der Knaap, M. S., Back, S. A., Damiani, S., Goldman, S. A., Takanohashi, A., Petryniak, M., Rowitch, D., Messing, A., Wrabetz, L., Schiffmann, R. & 3 others, Eichler, F., Escolar, M. L. & Vanderver, A., 2015, In : Molecular Genetics and Metabolism. 114, 4, p. 527-536

Research output: Contribution to JournalArticle

Early-Onset Aicardi-Goutieres Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition

Vanderver, A., Prust, M., Kadom, N., Demarest, S., Crow, Y. J., Helman, G., Orcesi, S., La Piana, R., Uggetti, C., Wang, J. C., Gordisch-Dressman, H., van der Knaap, M. S. & Livingston, J. H., 2015, In : Journal of Child Neurology. 30, 10, p. 1343-1348

Research output: Contribution to JournalArticle

Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes

van de Pol, L. A., Wolf, N. I., van Weissenbruch, M. M., Stam, C. J., Weiss, M. M., Waisfisz, Q., Kevelam, S. H., Bugiani, M., van de Kamp, J. M. & Knaap, M., 2015, In : Neuropediatrics. 46, 6, p. 392-400

Research output: Contribution to JournalArticle

Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts

Kariminejad, A., Rajaee, A., Ashrafi, M. R., Alizadeh, H., Tonekaboni, S. H., Malamiri, R. A., Ghofrani, M., Karimzadeh, P., Mohammadi, M. M., Baghalshooshtari, A., Bozorgmehr, B., Kariminejad, M. H., Postma, N., Abbink, G. E. M. & van der Knaap, M. S., 2015, In : European Journal of Medical Genetics. 58, 2, p. 71-74

Research output: Contribution to JournalArticle

Hypomyelination and Congenital Cataract

Biancheri, R., Zara, F., Bruno, C., Gazzerro, E., Rossi, A., Knaap, M. & Minetti, C., 4 Jun 2015, GeneReviews® [internet]. Pagon, R. A., Adam, M. P. & Ardinger, H. H. (eds.). Seattle, WA: University of Washington, 1 p.

Research output: Chapter in Book / Report / Conference proceedingChapterAcademic

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 JournalArticle

Open Access

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 JournalArticle

Open Access

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 others, Knaap, M., 2015, In : Annals of Neurology. 77, 11, p. 114-131

Research output: Contribution to JournalArticle

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 JournalArticle

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 JournalArticle

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 others, Fribourg, 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 JournalArticle

Open Access

Reply: A novel TUBB4A mutation suggests that genotype-phenotype correlation of H-ABC syndrome needs to be revisited

Hamilton, E. M. C., Wolf, N. I. & van der Knaap, M. S., 2015, In : Brain. 138, E371.

Research output: Contribution to JournalArticle

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 JournalArticle

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 JournalArticle

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 JournalArticle

Open Access

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 JournalArticle

Open Access
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 JournalArticle