Marjo van der Knaap

PROF.DR.

19992019
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Research Output 1999 2019

2011

N-Acetylaspartylglutamate in CNS Hypomyelination

Wamelink, M. M. C., Struys, E., Holwerda, U., Sistermans, E. A., van Spaendonk, R. M. L., Halley, D., Willemsen, M. A. A. P., Jakobs, C. A. J. M., van der Knaap, M. S. & Wolf, N. I., 2011, In : Neuropediatrics. 42, 2, p. 74-77

Research output: Contribution to journalArticleAcademicpeer-review

Not all cystic leukoencephalopathies are "vanishing white matter"

van der Knaap, M. S. & Scheper, G. C., 2011, In : Molecular Genetics and Metabolism. 103, 4, p. 413-413

Research output: Contribution to journalArticleAcademicpeer-review

Severity of Vanishing White Matter Disease Does Not Correlate with Deficits in eIF2B Activity or the Integrity of eIF2B Complexes

Liu, R., van der Lei, H. D. W., Wang, X. M., Wortham, N. C., Tang, H., van Berkel, C. G. M., Mufunde, T. A., Huang, W. D., van der Knaap, M. S., Scheper, G. C. & Proud, C. G., 2011, In : Human Mutation. 32, 9, p. 1036-1045

Research output: Contribution to journalArticleAcademicpeer-review

Vanishing White Matter Disease Associated With Ptosis and Myoclonic Seizures

Sharma, S., Arya, R., Raju, K. N. V., Kumar, A., Scheper, G. C., van der Knaap, M. S. & Gulati, S., 2011, In : Journal of Child Neurology. 26, 3, p. 366-368

Research output: Contribution to journalArticleAcademicpeer-review

2010

A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly

Shah, S., Kumar, Y., McLean, B., Churchill, A., Stoodley, N., Rankin, J., Rizzu, P., van der Knaap, M. S. & Jardine, P., 2010, In : European Journal of Paediatric Neurology. 14, 2, p. 182-187

Research output: Contribution to journalArticleAcademicpeer-review

Alexander disease with periventricular calcification: a novel mutation of the GFAP gene

Jefferson, R. J., Absoud, M., Jain, R., Livingston, J. H., van der Knaap, M. S. & Jayawant, S., 2010, In : Developmental Medicine and Child Neurology. 52, 12, p. 1160-1163

Research output: Contribution to journalArticleAcademicpeer-review

Analysis of CLCN2 as Candidate Gene for Megalencephalic Leukoencephalopathy with Subcortical Cysts

Scheper, G. C., van Berkel, C. G. M., Leisle, L., de Groot, K. E., Errami, A., Jentsch, T. J. & van der Knaap, M. S., 2010, In : Genetic Testing and Molecular Biomarkers. 14, 2, p. 255-257

Research output: Contribution to journalArticleAcademicpeer-review

An Overview of L-2-Hydroxyglutarate Dehydrogenase Gene (L2HGDH) Variants: A Genotype-Phenotype Study

Steenweg, M. E., Jakobs, C., Errami, A., van Dooren, S. J. M., Bartolome, M. T. A., Aerssens, P., Baric, I., Baumann, M., Bonafe, L., Chabrol, B., Clarke, J. T. R., Clayton, P., Coker, M., Cooper, S., Falik-Zaccai, T., Gorman, M., Hahn, A., Hasanoglu, A., King, M. D., de Klerk, H. B. C. & 30 othersKorman, S. H., Lee, C., Lund, A. M., Mejaski-Bosnjak, V., Pascual-Castroviejo, I., Raadhyaksha, A., Rootwelt, T., Roubertie, A., Ruiz-Falco, M. L., Scalais, E., Schimmel, U., Seijo-Martinez, M., Suri, M., Sykut-Cegielska, J., Trefz, F. K., Uziel, G., Valayannopoulos, V., Vianey-Saban, C., Vlaho, S., Vodopiutz, J., Wajner, M., Walter, J., Walter-Derbort, C., Yapici, Z., Zafeiriou, D. I., Spreeuwenberg, M. D., Celli, J., den Dunnen, J. T., van der Knaap, M. S. & Salomons, G. S., 2010, In : Human Mutation. 31, 4, p. 380-390

Research output: Contribution to journalArticleAcademicpeer-review

Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter

Schiffmann, R., Fogli, A., van der Knaap, M. S. & Boespflug-Tanguy, O., 2010, GeneReviews™ at GeneTests: Medical Genetics information Resource. Seattle (WA), USA: University of Washington

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

Genotype-phenotype correlation in vanishing white matter disease

van der Lei, H. D. W., van Berkel, C. G. M., van Wieringen, W. N., Brenner, C., Feigenbaum, A., Mercimek-Mahmutoglu, S., Philippart, M., Tatli, B., Wassmer, E., Scheper, G. C. & van der Knaap, M. S., 2010, In : Neurology. 75, 17, p. 1555-1559

Research output: Contribution to journalArticleAcademicpeer-review

Hypomyelination and Congenital Cataract. 2008

Biancheri, R., Zara, F., Bruno, C., Gazzerro, E., Rossi, A., van der Knaap, M. S. & Minetti, C., 2010, In : GeneReviews.

Research output: Contribution to journalArticleAcademicpeer-review

Hypomyelination Versus Delayed Myelination

van der Knaap, M. S. & Wolf, N. I., 2010, In : Annals of Neurology. 68, 1, p. 115-115

Research output: Contribution to journalArticleAcademicpeer-review

IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria

Kranendijk, M., Struijs, E. A., van Schaftingen, E., Gibson, K. M., Kanhai, W. A., van der Knaap, M. S., Amiel, J., Buist, N. R., Das, A. M., de Klerk, J. B., Feigenbaum, A. S., Grange, D. K., Hofstede, F. C., Holme, E., Kirk, E. P., Korman, S. H., Morava, E., Morris, A., Smeitink, J., Sukhai, R. N. & 3 othersVallance, H., Jakobs, C. & Salomons, G. S., 2010, In : Science. 330, 6002, p. 336-336

Research output: Contribution to journalArticleAcademicpeer-review

Is hearing loss a feature of Joubert syndrome, a ciliopathy?

Kroes, H. Y., Van Zanten, B. G. A., De Ru, S. A., Boon, M., Mancini, G. M. S., van der Knaap, M. S., Poll-The, B. & Lindhout, D., 2010, In : International Journal of Pediatric Otorhinolaryngology. 74, 9, p. 1034-1038

Research output: Contribution to journalArticleAcademicpeer-review

Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation

van der Knaap, M. S. & Scheper, G. C., 2010, In : GeneReviews.

Research output: Contribution to journalArticleAcademicpeer-review

Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Normal Lactate: A New Mutation in the DARS2 Gene

Lin, J., Faria, E. C., Da Rocha, A. J., Masruha, M. R., Vilanova, L. C. P., Scheper, G. C. & van der Knaap, M. S., 2010, In : Journal of Child Neurology. 25, 11, p. 1425-1428

Research output: Contribution to journalArticleAcademicpeer-review

Leukoencephalopathy With Vanishing White Matter: A Review

Bugiani, M., Boor, I., Powers, J. M., Scheper, G. C. & van der Knaap, M. S., 2010, In : Journal of Neuropathology and Experimental Neurology. 69, 10, p. 987-996

Research output: Contribution to journalArticleAcademicpeer-review

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

Steenweg, M. E., Vanderver, A., Blaser, S., Blizzi, A., de Koning, T. J., Mancini, G. M. S., van Wieringen, W. N., Barkhof, F., Wolf, N. I. & van der Knaap, M. S., 2010, In : Brain. 133, 10, p. 2971-2982

Research output: Contribution to journalArticleAcademicpeer-review

Megalencephalic Leukoencephalopathy with Cysts without MLC1 Defect Two Phenotypes

van der Knaap, M. S., Lai, V., Kohler, W., Salih, M. A., Fonseca, M. J., Benke, T. A., Wilson, C., Jayakar, P., Aine, M. R., Dom, L., Lynch, B., Kalmanchey, R., Pietsch, P., Errami, A. & Scheper, G. C., 2010, In : Annals of Neurology. 67, 6, p. 834-837

Research output: Contribution to journalArticleAcademicpeer-review

Megalencephalic Leukoencephalopathy with Subcortical Cysts

van der Knaap, M. S. & Scheper, G. C., 2010, In : GeneReviews.

Research output: Contribution to journalArticleAcademicpeer-review

Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

Antonicka, H., Ostergaard, E., Sasarman, F., Weraarpachai, W., Wibrand, F., Pedersen, A. M. B., Rodenburg, R. J., van der Knaap, M. S., Smeitink, J. A. M., Chrzanowska-Lightowlers, ZM. & Shoubridge, E. A., 2010, In : American journal of human genetics. 87, 1, p. 115-122

Research output: Contribution to journalArticleAcademicpeer-review

Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in the Turkish population

Yis, U., Scheper, G. C., Uran, N., Unalp, A., Cakmakci, H., Hiz-Kurul, S., Dirik, E. & van der Knaap, M. S., 2010, In : Turkish Journal of Pediatrics. 52, 2, p. 179-183

Research output: Contribution to journalArticleAcademicpeer-review

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

Willemsen, M. A., Verbeek, M. M., Kamsteeg, E. J., de Rijk-van Andel, J., Aeby, A., Blau, N., Burlina, A., Donati, M. A., Geurtz, B., Grattan-Smith, P. J., Haeussler, M., Hoffmann, G. F., Jung, H., de Klerk, J. B., van der Knaap, M. S., Kok, F., Leuzzi, V., de Lonlay, P., Megarbane, A., Monaghan, H. & 12 othersRenier, W. O., Rondot, P., Ryan, M. M., Seeger, J., Smeitink, J. A., Steenbergen-Spanjers, G. C., Wassmer, E., Weschke, B., Wijburg, F. A., Wilcken, B., Zafeiriou, D. I. & Wevers, R. A., 2010, In : Brain. 133, p. 1810-1822

Research output: Contribution to journalArticleAcademicpeer-review

Uw diagnose?

Dorhout, M. S. M., Braun, K. P. J., van der Knaap, M. S. & Jansen, F. E., 2010, In : Tijdschrift voor Neurologie & Neurochirurgie. 111, 5, p. 222-223

Research output: Contribution to journalArticleProfessional

Vanishing White Matter

van der Knaap, M. S., Bugiani, M., Boor, I., Proud, C. G. & Scheper, G. C., 2010, The Online Metabolic and Molecular Bases of Inherited Diseases (OMMBID). New York: McGraw-Hill, p. chapter-235.1 (Neurogenetics; no. Part 28).

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

30 Downloads (Pure)

White matter disorders: MRI-pathology correlations.

van der Voorn, J. P., 2010

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

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X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode

Anand, G., Maheshwari, N., Roberts, D., Padeniya, A., Hamilton-Ayers, M., van der Knaap, M. S., Fratter, C. & Jayawant, S., 2010, In : Developmental Medicine and Child Neurology. 52, 7, p. 677-679

Research output: Contribution to journalArticleAcademicpeer-review

2009

AGC1 Deficiency and Cerebral Hypomyelination

Wolf, N. I. & van der Knaap, M. S., 2009, In : New England Journal of Medicine. 361, 20, p. 1997-1998

Research output: Contribution to journalArticleAcademicpeer-review

Alexander disease: Early presence of cerebral MRI criteria

Poloni, C. B., Ferey, S., Haenggeli, C. A., Delavelle, J., Bottani, A., Salomons, G. S., van der Knaap, M. S. & Korff, C. M., 2009, In : European Journal of Paediatric Neurology. 13, 6, p. 556-558

Research output: Contribution to journalArticleAcademicpeer-review

Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria

Kranendijk, M., Salomons, G. S., Gibson, K. M., Aktuglu-Zeybek, C., Bekri, S., Christensen, E., Clarke, J., Hahn, A., Korman, S. H., Mejaski-Bosnjak, V., Superti-Furga, A., Vianey-Saban, C., van der Knaap, M. S., Jakobs, C. & Struys, E. A., 2009, In : Journal of Inherited Metabolic Disease. 32, 6, p. 713-719

Research output: Contribution to journalArticleAcademicpeer-review

Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2

Neilson, D. E., Adams, M. D., Orr, C. M. D., Schelling, D. K., Eiben, R. M., Kerr, D. S., Anderson, J., Bassuk, A. G., Bye, A. M., Childs, A. M., Clarke, A., Crow, Y. J., Di Rocco, M., Dohna-Schwake, C., Dueckers, G., Fasano, A. E., Gika, A. D., Gionnis, D., Gorman, M. P., Grattan-Smith, P. J. & 18 othersHackenberg, A., Kuster, A., Lentschig, M. G., Lopez-Laso, E., Marco, E. J., Mastroyianni, S., Perrier, J., Schmitt-Mechelke, T., Servidei, S., Skardoutsou, A., Uldall, P., van der Knaap, M. S., Goglin, K. C., Tefft, D. L., Aubin, C., de Jager, P., Hafler, D. & Warman, M. L., 2009, In : American journal of human genetics. 84, 1, p. 44-51

Research output: Contribution to journalArticleAcademicpeer-review

Invited Article: An MRI-based approach to the diagnosis of white matter disorders

Schiffmann, R. & van der Knaap, M. S., 2009, In : Neurology. 72, 8, p. 750-759

Research output: Contribution to journalArticleAcademicpeer-review

L-2-Hydroxyglutaric Aciduria: Pattern of MR Imaging Abnormalities in 56 Patients

Steenweg, M. E., Salomons, G. S., Yapici, Z., Uziel, G., Scalais, E., Zafeiriou, D. I., Ruiz-Falco, M. L., Mejaski-Bosnjak, V., Augoustides-Savvopoulou, P., Wajner, M., Walter, J., Verhoeven, N. M., Struijs, E. A., Jakobs, C. A. J. M. & van der Knaap, M. S., 2009, In : Radiology. 251, 3, p. 856-865

Research output: Contribution to journalArticleAcademicpeer-review

26 Downloads (Pure)

Leukoencephalopathy with vanishing white matter presenting with presenile dementia

Gascon-Bayarri, J., Campdelacreu, J., Sanchez-Castaneda, C., Martinez-Yelamos, S., Moragas, M., Scheper, G. C., van der Knaap, M. S. & Rene, R., 2009, In : Journal of Neurology, Neurosurgery and Psychiatry. 80, 7, p. 810-811 3 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
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Megalencephalic Leukoencephalopathy with Subcortical Cysts: A Third Confirmed Case with Literature Review

Miles, L., DeGrauw, T. J., Dinopolilos, A., Cecil, K. M., van der Knaap, M. S. & Bove, K. E., 2009, In : Pediatric and Developmental Pathology. 12, 3, p. 180-186

Research output: Contribution to journalArticleAcademicpeer-review

Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response

Rice, G. I., Bond, J., Asipu, A., Brunette, R. L., Manfield, I. W., Carr, I. M., Fuller, J. H., Jackson, R. B., Lamb, T., Briggs, T. A., Ali, M., Gornall, H., Couthard, L. R., Aeby, A., Attard-Montalto, S. P., Bertini, E., Bodemer, C., Brockmann, K., Brueton, L. A., Corry, P. C. & 31 othersDesguerre, I., Fazzi, E., Cazorla, A. G., Gener, B., Hamel, B. C., Heiberg, A., Hunter, M., van der Knaap, M. S., Kumar, R., Lagae, L., Landrieu, P. G., Lourenco, C. M., Marom, D., McDermott, M. F., van der Merwe, W., Orcesi, S., Prendiville, J. S., Rasmussen, M., Shalev, S. A., Soler, D. M., Shinawi, M., Spiegel, R., Tan, T. Y., Vanderver, A., Wakeling, E. L., Wassmer, E., Whittaker, E., Lebon, P., Stetson, D. B., Bonthron, D. T. & Crow, Y. J., 2009, In : Nature Genetics. 41, 7, p. 829-832

Research output: Contribution to journalArticleAcademicpeer-review

Novel Pathogenic Mechanism Suggested by Ex Vivo Analysis of MCT8 (SLC16A2) Mutations

Visser, W. E., Jansen, J., Friesema, E. C. H., Kester, M. H. A., Mancilla, E., Lundgren, J., van der Knaap, M. S., Lunsing, R. J., Brouwar, O. F. & Visser, T. J., 2009, In : Human Mutation. 30, 1, p. 29-38

Research output: Contribution to journalArticleAcademicpeer-review

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

Denora, P. S., Schlesinger, D., Casali, C., Kok, F., Tessa, A., Boukhris, A., Azzedine, H., Dotti, M. T., Bruno, C., Truchetto, J., Biancheri, R., Fedirko, E., Di Rocco, M., Bueno, C., Malandrini, A., Battini, R., Sickl, E., de Leva, M. F., Boespflug-Tanguy, O., Silvestri, G. & 35 othersSimonati, A., Said, E., Ferbert, A., Criscuolo, C., Heinimann, K., Modoni, A., Weber, P., Palmeri, S., Plasilova, M., Pauri, F., Cassandrini, D., Battisti, C., Pini, A., Tosetti, M., Hauser, E., Masciullo, M., Di Fabio, R., Piccolo, F., Denis, E., Cioni, G., Massa, R., la Giustina, E., Calabrese, O., Melone, M. A. B., De Michele, G., Federico, A., Bertini, E., Durr, A., Brockmann, K., van der Knaap, M. S., Zatz, M., Filla, A., Brice, A., Stevanin, G. & Santorelli, F. M., 2009, In : Human Mutation. 30, 3, p. E500-E519

Research output: Contribution to journalArticleAcademicpeer-review

27 Downloads (Pure)
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"Vanishing White Matter Disease"

Mejaski-Bosnjak, V., Dakovic, I., Scheper, G. C., van der Knaap, M. S., Grmoja, T. & Gojmerac, T., 2009, In : PAEDIATRIA CROATICA. 53, 3, p. 149-152

Research output: Contribution to journalArticleAcademicpeer-review

2008
23 Downloads (Pure)

Atypical presentation of vanishing white matter disease

da Costa Fontenelle, L. M., Scheper, G. C., Brandao, L. & van der Knaap, M. S., 2008, In : Arquivos de neuro-psiquiatria. 66, 3A, p. 549-551

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
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Cerebellar leukoencephalopathy: most likely histiocytosis-related

van der Knaap, M. S., Arts, W. F. M., Garbern, J. Y., Hedlund, G., Winkler, F., Barbosa, C., King, M. D., Bjornstad, A., Hussain, N., Beyer, M. K., Gomez, C., Patterson, M. C., Grattan-Smith, P., Timmons, M. & van der Valk, P., 2008, In : Neurology. 71, 17, p. 1361-1367

Research output: Contribution to journalArticleAcademicpeer-review

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

Briggs, T. A., Abdel-Salam, G., Balicki, M., Baxter, P., Bertini, E., Bishop, N., Browne, B. H., Chitayat, D., Chong, W. K., Eid, M. M., Halliday, W., Hughes, I., Klusmann-Koy, A., Kurian, M., Nischal, K. K., Rice, G. I., Stephenson, J. B. P., Surtees, R., Talbot, J. F., Tehrani, N. N. & 4 othersTolmie, J. L., Toomes, C., van der Knaap, M. S. & Crow, Y. J., 2008, In : American Journal of Medical Genetics Part A. 146A, 2, p. 182-190

Research output: Contribution to journalArticleAcademicpeer-review

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency

Betsalel, O. T., van de Kamp, J. M., Martinez-Munoz, C., Rosenberg, E. H., de Brouwer, A. P. M., Pouwels, P. J. W., van der Knaap, M. S., Mancini, G. M. S., Jakobs, C. A. J. M., Hamel, B. C. J. & Salomons, G. S., 2008, In : Neurogenetics. 9, 3, p. 183-190

Research output: Contribution to journalArticleAcademicpeer-review

Effectiveness of selective dorsal rhizotomy in 2 patients with progressive spasticity due to neurodegenerative disease

Grunt, S., van der Knaap, M. S., van Ouwerkerk, W. J. R., Strijers, R. L. M., Becher, J. G. & Vermeulen, R. J., 2008, In : Journal of Child Neurology. 23, 7, p. 818-822

Research output: Contribution to journalArticleAcademicpeer-review

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance

Lampe, A. K., Zou, Y., Sudano, D., O'Brien, K. K., Hicks, D., Laval, S. H., Charlton, R., Jimenez-Mallebrera, C., Zhang, R. Z., Finkel, R. S., Tennekoon, G., Schreiber, G., van der Knaap, M. S., Marks, H., Straub, V., Flanigan, K. M., Chu, M. L., Muntoni, F., Bushby, K. M. D. & Bonnemann, C. G., 2008, In : Human Mutation. 29, 6, p. 809-822

Research output: Contribution to journalArticleAcademicpeer-review

Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder

Rossi, A., Biancheri, R., Zara, F., Bruno, C., Uziel, G., van der Knaap, M. S., Minetti, C. & Tortori-Donati, P., 2008, In : American Journal of Neuroradiology. 29, 2, p. 301-305

Research output: Contribution to journalArticleAcademicpeer-review

Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case with distinct MRI findings

Uluc, K., Baskan, O., Yildirim, K. A., Ozsahin, S., Koseoglu, M., Isak, B., Scheper, G. C., Gunal, D. I. & van der Knaap, M. S., 2008, In : Journal of the Neurological Sciences. 273, 1-2, p. 118-122

Research output: Contribution to journalArticleAcademicpeer-review

2 Downloads (Pure)

Megalencephalic leukoencephalopathy with subcortical cysts: from disease gene to protein function

Boor, P. K. I., 2008

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

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