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  • M.S. van der Knaap
2011

A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene

Delmonaco, A. G., Gaidolfi, E., Scheper, G. C., Girardo, E., Molinatto, C., Belligni, E., Ferrero, G. B., Cirillo Silengo, M. & van der Knaap, M. S., 2011, In : Minerva pediatrica. 63, 2, p. 125-129

Research output: Contribution to JournalArticleAcademicpeer-review

Adult polyglucosan body disease: een weinig bekende maar herkenbare wittestofziekte

Kerklaan, B. J., Scheltens, P., Schoonderwoerd, G. C., Killestein, J., Rozemuller, J. M. & van der Knaap, M. S., 2011, In : Tijdschrift voor Neurologie & Neurochirurgie. 112, p. 26-31

Research output: Contribution to JournalArticleProfessional

A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria

Messmer, M., Florentz, C., Schwenzer, H., Scheper, G. C., van der Knaap, M. S., Marechal-Drouard, L. & Sissler, M., 2011, In : Biochemical Journal. 433, p. 441-446

Research output: Contribution to JournalArticleAcademicpeer-review

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Namavar, Y., Barth, P. G., Kasher, P. R., van Ruissen, F., Brockmann, K., Bernert, G., Writzl, K., Ventura, K., Cheng, E. Y., Ferriero, D. M., Basel-Vanagaite, L., Eggens, V. R., Krägeloh-Mann, I., De Meirleir, L., King, M., Graham Jr., J. M., von Moers, A., Knoers, N., Sztriha, L., Korinthenberg, R. & 4 others, van der Knaap, M. S., Dobyns, W. B., Baas, F. & Poll-The, B. T., 2011, In : Brain. 134, p. 143-156

Research output: Contribution to JournalArticleAcademicpeer-review

Clinical features and X-inactivation in females heterozygous for creatine transporter defect

van de Kamp, J. M., Mancini, G. M. S., Pouwels, P. J. W., Betsalel, O. T., van Dooren, S. J. M., de Koning, I., Steenweg, M. E., Jakobs, C. A. J. M., van der Knaap, M. S. & Salomons, G. S., 2011, In : Clinical Genetics. 79, 3, p. 264-272

Research output: Contribution to JournalArticleAcademicpeer-review

COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification

Livingston, J., Doherty, D., Orcesi, S., Tonduti, D., Piechiecchio, A., La Piana, R., Tournier-Lasserve, E., Majumdar, A., Tomkins, S., Rice, G., Kneen, R., van der Knaap, M. S. & Crow, Y., 2011, In : Neuropediatrics. 42, 6, p. 227-233

Research output: Contribution to JournalArticleAcademicpeer-review

Correlating Quantitative MR Imaging with Histopathology in X-Linked Adrenoleukodystrophy

van der Voorn, J. P., Pouwels, P. J. W., Powers, J. M., Kamphorst, W., Martin, J. J., Troost, D., Spreeuwenberg, M. D., Barkhof, F. & van der Knaap, M. S., 2011, In : American Journal of Neuroradiology. 32, 3, p. 481-489

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access

Correspondence on "Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy"

van Berge, L., van Berkel, C. G. M., Scheper, G. C. & van der Knaap, M. S., 2011, In : Journal of Child Neurology. 26, 8, p. 1057-1057

Research output: Contribution to JournalArticleAcademicpeer-review

Defective Glial Maturation in Vanishing White Matter Disease

Bugiani, M., Boor, I., van Kollenburg, B. C. A. E., Postma, N. L., Polder, E., van Berkel, C., van Kesteren, R. E., Windrem, M. S., Hol, E. M., Scheper, G. C., Goldman, S. A. & van der Knaap, M. S., 2011, In : Journal of Neuropathology and Experimental Neurology. 70, 1, p. 69-82

Research output: Contribution to JournalArticleAcademicpeer-review

Familial Hemophagocytic Lymphohistiocytosis in a Pediatric Patient Diagnosed by Brain Magnetic Resonance Imaging

van Egmond, M. E., Vermeulen, R. J., Peeters-Scholte, C. M. P. C., Augoustides-Savvopoulou, P., Abbink, F. C. H., Boelens, J. J. & van der Knaap, M. S., 2011, In : Neuropediatrics. 42, 5, p. 191-193

Research output: Contribution to JournalArticleAcademicpeer-review

Fetal Origin of Brain Damage in 2 Infants with a COL4A1 Mutation: Fetal and Neonatal MRI

Vermeulen, R. J., Peeters-Scholte, C., Van Vught, J. J. M. G., Barkhof, F., Rizzu, P., van der Schoor, S. R. D. & van der Knaap, M. S., 2011, In : Neuropediatrics. 42, 1, p. 1-3

Research output: Contribution to JournalArticleAcademicpeer-review

Hypomyelination and congenital cataract: broadening the clinical phenotype

Biancheri, R., Zara, F., Rossi, A., Mathot, M., Nassonge, M. G., Yalcinkaya, C., Erturk, O., Tuysus, B., Di Rocco, M., Gazzerro, E., Bugiani, M., van Spaendonk, R. M. L., Sistermans, E. A., Minetti, C., van der Knaap, M. S. & Wolf, N. I., 2011, In : Archives of Neurology. 68, 9, p. 1191-1194

Research output: Contribution to JournalArticleAcademicpeer-review

Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome

Narumi, Y., Shiihara, T., Yoshihashi, H., Sakazume, S., van der Knaap, M. S., Nishimura-Tadaki, A., Matsumoto, N. & Fukushima, Y., 2011, In : Clinical Dysmorphology. 20, 3, p. 166-167

Research output: Contribution to JournalArticleAcademicpeer-review

Knockdown of MLC1 in primary astrocytes causes cell vacuolation: A MLC disease cell model

Duarri, A., de Heredia, M. L., Capdevila-Nortes, X., Ridder, M. C., Montolio, M., Lopez-Hernandez, T., Boor, P. K. I., Lien, C. F., Hagemann, T., Messing, A., Gorecki, D. C., Scheper, G. C., Martinez, A., Nunes, V., van der Knaap, M. S. & Estevez, R., 2011, In : Neurobiology of Disease. 43, 1, p. 228-238

Research output: Contribution to JournalArticleAcademicpeer-review

Late onset Alexander's disease presenting as cerebellar ataxia associated with a novel mutation in the GFAP gene

Schmidt, S., Wattjes, M. P., Gerding, W. M. & van der Knaap, M. S., 2011, In : Journal of Neurology. 258, 5, p. 938-940

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access
File

Leucoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging

Steenweg, M. E., Pouwels, P. J. W., Wolf, N. I., van Wieringen, W. N., Barkhof, F. & van der Knaap, M. S., 2011, In : Brain. 134, 11, p. 3333-3341

Research output: Contribution to JournalArticleAcademicpeer-review

Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate: A Genetically Proven Case Without Elevated White Matter Lactate

Sharma, S., Sankhyan, N., Kumar, A., Scheper, G. C., van der Knaap, M. S. & Gulati, S., 2011, In : Journal of Child Neurology. 26, 6, p. 773-776

Research output: Contribution to JournalArticleAcademicpeer-review

Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation. LBSL, Mitochondrial Aspartyl-tRNA Synthetase Deficiency

van der Knaap, M. S. & Scheper, G. C., 2011, GeneReviews [Internet].. Pagon, R. A., Bird, T. D., Dolan, C. R. & Stephens, K. (eds.). Seattle (WA): University of Washington

Research output: Chapter in Book / Report / Conference proceedingChapterAcademic

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient

Mierzewska, H., van der Knaap, M. S., Scheper, G. C., Bekiesinska-Figatowska, M., Szczepanik, E. & Jurkiewicz, E., 2011, In : Brain and Development. 33, 9, p. 713-717

Research output: Contribution to JournalArticleAcademicpeer-review

Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation

Ridder, M. C., Boor, I., Lodder, J. C., Postma, N. L., Capdevila-Nortes, X., Duarri, A., Brussaard, A. B., Estévez, R., Scheper, G. C., Mansvelder, H. D. & van der Knaap, M. S., 2011, In : Brain. 134, 11, p. 3342-3354

Research output: Contribution to JournalArticleAcademicpeer-review

Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts

López-Hernández, T., Sirisi, S., Capdevila-Nortes, X., Montolio, M., Fernandez-Duenas, V., Scheper, G. C., van der Knaap, M. S., Casquero, P., Ciruela, F., Ferrer, I., Nunes, V. & Estevez, R., 2011, In : Human Molecular Genetics. 20, 16, p. 3266-3277

Research output: Contribution to JournalArticleAcademicpeer-review

Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism

López-Hernández, T., Ridder, M. C., Montolio, M., Capdevila-Nortes, X., Polder, E., Sirisi, S., Duarri, A., Schulte, U., Fakler, B., Nunes, V., Scheper, G. C., Martinez, A., Estevez, R. & van der Knaap, M. S., 2011, In : American Journal of Human Genetics. 88, 4, p. 422-432

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access

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

Patient With Unilateral White Matter Involvement Does Not Have Krabbe Disease

van der Knaap, M. S. & Wenger, D. A., 2011, In : Archives of Neurology. 68, 10, p. 1344-1344

Research output: Contribution to JournalArticleAcademicpeer-review

Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease

Meyer, E., Kurian, M. A., Morgan, N. V., McNeill, A., Pasha, S., Tee, L., Younis, R., Norman, A., van der Knaap, M. S., Wassmer, E., Trembath, R. C., Brueton, L. & Maher, E. R., 2011, In : Molecular Genetics and Metabolism. 104, 4, p. 637-643

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

2012

A 2-month-old infant with vomiting, seizures, and progressive apathy

Larsen, A., Martin, C., Meyer, S., Rohrer, T., Papanagiotou, P., van der Knaap, M. S. & Gortner, L., 2012, In : European Journal of Pediatrics. 171, 6, p. 993-995

Research output: Contribution to JournalArticleAcademicpeer-review

Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication

Santos, M. M., Grond-Ginsbach, C., Aksay, S. S., Chen, B. W., Tchatchou, S., Wolf, N. I., van der Knaap, M. S. & Grau, A. J., 2012, In : Journal of Neurology. 259, 3, p. 579-581

Research output: Contribution to JournalArticleAcademicpeer-review

Adult-Onset Vanishing White Matter Disease Due to a Novel EIF2B3 Mutation

La Piana, R., Vanderver, A., van der Knaap, M. S., Roux, L., Tampieri, D., Brais, B. & Bernard, G., 2012, In : Archives of Neurology. 69, 6, p. 765-768

Research output: Contribution to JournalArticleAcademicpeer-review

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings

Mochel, F., Schiffmann, R., Steenweg, M. E., Akman, H. O., Wallace, M., Sedel, F., Laforet, P., Levy, R., Powers, J. M., Demeret, S., Maisonobe, T., Froissart, R., Da Nobrega, B. B., Fogel, B. L., Natowicz, M. R., Lubetzki, C., Durr, A., Brice, A., Rosenmann, H., Barash, V. & 4 others, Kakhlon, O., Gomori, J. M., van der Knaap, M. S. & Lossos, A., 2012, In : Annals of Neurology. 72, 3, p. 433-441

Research output: Contribution to JournalArticleAcademicpeer-review

A Novel GJC2 Mutation Associated with Hypomyelination and Mullerian Agenesis Syndrome: Coincidence or a New Entity?

Yalcinkaya, C., Erturk, O., Tuysuz, B., Yesil, G., Verbeke, J. I. M. L., Keyser, B., Stuhrmann, M., Steinemann, D., Sistermans, E. A. & van der Knaap, M. S., 2012, In : Neuropediatrics. 43, 3, p. 159-161

Research output: Contribution to JournalArticleAcademicpeer-review

Archetypal and New Families With Alexander Disease and Novel Mutations in GFAP

Messing, A., Li, R., Naidu, S., Taylor, J. P., Silverman, L., Flint, D., van der Knaap, M. S. & Brenner, M., 2012, In : Archives of Neurology. 69, 2, p. 208-214

Research output: Contribution to JournalArticleAcademicpeer-review

Cerebellar ataxia as the first manifestation of Alexander's disease

Rezende, S. A. D., Fernandes, M., Munhoz, R. P., Raskin, S., Schelp, A. O., van der Knaap, M. S. & Teive, H. A. G., 2012, In : Arquivos de neuro-psiquiatria. 70, 4, p. 309-310

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access
File

Characteristics of Early MRI in Children and Adolescents with Vanishing White Matter

van der Lei, H. D. W., Steenweg, M. E., Barkhof, F., de Grauw, T., D'Hooghe, M., Morton, R., Shah, S., Wolf, N. & van der Knaap, M. S., 2012, In : Neuropediatrics. 43, 1, p. 22-26

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., 2012, GeneReviews™ at GeneTests: Medical Genetics information Resource. Pagon, R. A., Bird, T. D., Dolan, C. R., Stephens, K. & Adam, M. P. (eds.). Seattle, WA: University of Washington, 18 p.

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

Childhood presentation of COL4A1 mutations

Shah, S., Ellard, S., Kneen, R., Lim, M., Osborne, N., Rankin, J., Stoodley, N., van der Knaap, M. S., Whitney, A. & Jardine, P., 2012, In : Developmental Medicine and Child Neurology. 54, 6, p. 569-574

Research output: Contribution to JournalArticleAcademicpeer-review

Early-Onset LBSL: How Severe Does It Get?

Steenweg, M. E., van Berge, L., van Berkel, C. G. M., de Coo, I. F. M., Temple, I. K., Brockmann, K., Mendonca, C. I. P., Vojta, S., Kolk, A., Peck, D., Carr, L., Uziel, G., Feigenbaum, A., Blaser, S., Scheper, G. C. & van der Knaap, M. S., 2012, In : Neuropediatrics. 43, 6, p. 332-338

Research output: Contribution to JournalArticleAcademicpeer-review

Late onset vanishing white matter disease presenting with learning difficulties

Damasio, J., van der Lei, H. D. W., van der Knaap, M. S. & Santos, E., 2012, In : Journal of the Neurological Sciences. 314, 1-2, p. 169-170

Research output: Contribution to JournalArticleAcademicpeer-review

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA

van Berge, L., Dooves, S., van Berkel, C. G. M., Polder, E., van der Knaap, M. S. & Scheper, G. C., 2012, In : Biochemical Journal. 441, p. 955-962

Research output: Contribution to JournalArticleAcademicpeer-review

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

Steenweg, M. E., Ghezzi, D., Haack, T., Abbink, G. E. M., Martinelli, D., van Berkel, C. G. M., Bley, A., Diogo, L., Grillo, E., Naude, J. T. W., Strom, T. M., Bertini, E., Prokisch, H., van der Knaap, M. S. & Zeviani, M., 2012, In : Brain. 135, p. 1387-1394

Research output: Contribution to JournalArticleAcademicpeer-review

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

van de Kamp, J. M., Pouwels, P. J. W., Aarsen, F. K., Hoopen, L. W., Knol, D. L., de Klerk, J. B., de Coo, I. F., Huijmans, J. G., Jakobs, C. A. J. M., van der Knaap, M. S., Salomons, G. S. & Mancini, G. M., 2012, In : Journal of Inherited Metabolic Disease. 35, 1, p. 141-149

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access

Long-term tremor control with bilateral Vim-DBS in vanishing white matter disease

Valalik, I., van der Knaap, M. S., Scheper, G. C., Jobbagy, A., Liptai, Z. & Csokay, A., 2012, In : Parkinsonism and Related Disorders. 18, 9, p. 1048-1050

Research output: Contribution to JournalArticleAcademicpeer-review

Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis

van der Knaap, M. S., Boor, P. K. I. & Estevez, R., 2012, In : Lancet Neurology. 11, 11, p. 973-985

Research output: Contribution to JournalArticleAcademicpeer-review

MRI as diagnostic tool in early-onset peroxisomal disorders

van der Knaap, M. S., Wassmer, E., Wolf, N. I., Ferreira, P., Topcu, M., Wanders, R. J. A., Waterham, H. R. & Ferdinandusse, S., 2012, In : Neurology. 78, 17, p. 1304-1308

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access
File

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Anderson, B. H., Kasher, P. R., Mayer, J., Szynkiewicz, M., Jenkinson, E. M., Bhaskar, S. S., Urquhart, J. E., Daly, S. B., Dickerson, J. E., O'Sullivan, J., Leibundgut, E. O., Muter, J., Abdel-Salem, G. M. H., Babul-Hirji, R., Baxter, P., Berger, A., Bonafe, L., Brunstom-Hernandez, J. E., Buckard, J. A., Chitayat, D. & 44 others, Chong, W. K., Cordelli, D. M., Ferreira, P., Fluss, J., Forrest, E. H., Franzoni, E., Garone, C., Hammans, S. R., Houge, G., Hughes, I., Jacquemont, S., Jeannet, P. Y., Jefferson, R. J., Kumar, R., Kutschke, G., Lundberg, S., Lourenco, C. M., Mehta, R., Naidu, S., Nischal, K. K., Nunes, L., Ounap, K., Philippart, M., Prabhakar, P., Risen, S. R., Schiffmann, R., Soh, C., Stephenson, J. B. P., Stewart, H., Stone, J., Tolmie, J. L., van der Knaap, M. S., Vieira, J. P., Vilain, C. N., Wakeling, E. L., Wermenbol, V., Whitney, A., Lovell, S. C., Meyer, S., Livingston, J. H., Baerlocher, G. M., Black, G. C. M., Rice, G. I. & Crow, Y. J., 2012, In : Nature Genetics. 44, 3, p. 338-U1604

Research output: Contribution to JournalArticleAcademicpeer-review

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

Koene, S., Rodenburg, R. J., van der Knaap, M. S., Willemsen, M. A. A. P., Sperl, W., Laugel, V., Ostergaard, E., Tarnopolsky, M., Martin, M. A., Nesbitt, V., Fletcher, J., Edvardson, S., Procaccio, V., Slama, A., van den Heuvel, L. P. W. J. & Smeitink, J. A. M., 2012, In : Journal of Inherited Metabolic Disease. 35, 5, p. 737-747

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access

Novel Hypomyelinating Leukoencephalopathy Affecting Early Myelinating Structures

Steenweg, M. E., Wolf, N. I., Schieving, J. H., Elsaid, M. F., Friederich, R. L., Ostergaard, J. R., Barkhof, F., Pouwels, P. J. W. & van der Knaap, M. S., 2012, In : Archives of Neurology. 69, 1, p. 125-128

Research output: Contribution to JournalArticleAcademicpeer-review

Novel Infantile-Onset Leukoencephalopathy With High Lactate Level and Slow Improvement

Steenweg, M. E., Vanderver, A., Ceulemans, B., Prabhakar, P., Regal, L., Fattal-Valevski, A., Richer, L., Simonetti, B. G., Barkhof, F., Rodenburg, R. J. T., Pouwels, P. J. W. & van der Knaap, M. S., 2012, In : Archives of Neurology. 69, 6, p. 718-722

Research output: Contribution to JournalArticleAcademicpeer-review