M.S. van der Knaap

prof. dr.

19972019
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Research Output 1997 2019

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2019

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 13 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Deafness
Aminoacylation
Transfer RNA
Brain
Fibroblasts

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 JournalArticleAcademicpeer-review

Open Access
Leukoencephalopathies
Cell- and Tissue-Based Therapy
Neuroglia
Stem Cells
Stem cells

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 JournalArticleAcademicpeer-review

Congenital Myasthenic Syndromes
Leukoencephalopathies
Mitochondrial Diseases
Muscle Weakness
Genome
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 JournalArticleAcademicpeer-review

Open Access
Eukaryotic Initiation Factor-2B
Astrocytes
Mutation
White Matter
In Vitro Techniques

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 JournalArticleAcademicpeer-review

Open Access
Leukoencephalopathies
Astrocytes
Spinal Cord
Pathology
Oligodendroglia

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 JournalArticleAcademicpeer-review

Open Access
Astrocytes
Axons
Myelin Sheath
Prosencephalon
Coculture Techniques

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 JournalArticleAcademicpeer-review

Open Access
Guanabenz
Therapeutic Uses
Neuroglia
Pathology
Therapeutics

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 othersBernard, G., 5 Apr 2018, In : American Journal of Human Genetics. 102, 4, p. 676-684 9 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Amino Acyl-tRNA Synthetases
Mutation
Aminoacylation
Myelin Sheath
Inborn Genetic Diseases

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 JournalArticleAcademicpeer-review

Open Access
Metachromatic Leukodystrophy
Diffusion Tensor Imaging
Cell Transplantation
Anisotropy
Sulfoglycosphingolipids

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
Neuroglia
Homeostasis
Ions
Water
Brain

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 JournalArticleAcademicpeer-review

Open Access
Natural History
Age of Onset
Leukoencephalopathies
Absence Epilepsy
Sex Characteristics

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
Potassium
Seizures
Brain
Astrocytes
Epilepsy
2017

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

Open Access
Leukoencephalopathies
Cysts
Megalencephaly
Edema
Astrocytes

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

Open Access
Roma
Mutation
Population
Exome
Founder Effect
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 JournalArticleAcademicpeer-review

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 JournalArticleAcademicpeer-review

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 JournalArticleAcademicpeer-review

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 JournalArticleAcademicpeer-review

Leukoencephalopathies
Testing
Genes
Anodontia
Adrenoleukodystrophy

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 othersvan 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 JournalArticleAcademicpeer-review

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 JournalArticleAcademicpeer-review

Open Access
Congenital Generalized Lipodystrophy
Esophageal Achalasia
Esophageal Motility Disorders
Acanthosis Nigricans
Hirsutism

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 JournalArticleAcademicpeer-review

Leukoencephalopathies
Epidemiology
Public health
Molecular Epidemiology
Epidemiologic Studies

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 othersBabul-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 JournalArticleAcademicpeer-review

Phenotype
Mutation
Aicardi Syndrome
Interferons
Interferon Type I

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 JournalArticleAcademicpeer-review

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 JournalArticleAcademicpeer-review

Leukoencephalopathies
Steroids
Spinal Cord
Paraplegia
Mutation

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 othersEichler, F., Escolar, M. L. & Vanderver, A., 2015, In : Molecular Genetics and Metabolism. 114, 4, p. 527-536

Research output: Contribution to JournalArticleAcademicpeer-review

Leukoencephalopathies
Patient Care Management
Therapeutics
Phase II Clinical Trials
Clinical Trials, Phase I

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 JournalArticleAcademicpeer-review

Aicardi Syndrome
Magnetic Resonance Imaging
Temporal Lobe
Atrophy
Leukoencephalopathies

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 JournalArticleAcademicpeer-review

Brain Diseases
Epilepsy
Exome
Genes
Frameshift Mutation

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 JournalArticleAcademicpeer-review

Mutation
Megalencephaly
Seizures
Magnetic Resonance Imaging
Inbreeding

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 JournalArticleAcademicpeer-review

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 JournalArticleAcademicpeer-review

Open Access
Mutation
Exons
Genes
Complementary DNA
Phenotype

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

Research output: Contribution to JournalArticleAcademicpeer-review

Leukoencephalopathies
Cysts
Astrocytes
Edema
Brain

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 JournalArticleAcademicpeer-review

Mutation
Magnetic Resonance Imaging
Developmental Disabilities
Mutation Rate
Ataxia

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 JournalArticleAcademicpeer-review

Brain Diseases
Mutation
Magnetic Resonance Imaging
Exome
Genes

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 othersFribourg, 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 JournalArticleAcademicpeer-review

Open Access
biological evolution
RNA Polymerase III
mutations
Genes
genes

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 JournalArticleAcademicpeer-review

Reply: TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum

Hamilton, E. M. C., Wolf, N. I. & van der Knaap, M. S., 2015, In : Brain. 138, e328.

Research output: Contribution to JournalArticleAcademicpeer-review

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 JournalArticleAcademicpeer-review

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 JournalArticleAcademicpeer-review

Phenotype
Mutation
Cerebrovascular Disorders
Penetrance
Genetic Counseling

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 JournalArticleAcademicpeer-review

Open Access
Mosaicism
Neurons
Hippocampus
Genes
Retroelements

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 JournalArticleAcademicpeer-review

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 JournalArticleAcademicpeer-review

Leukoencephalopathies
Mutation
Corpus Callosum
Natural History
Genes

Childhood Lymphomatoid Granulomatosis: A Report of 2 Cases and Review of the Literature

Tacke, Z. C. A., Eikelenboom, M. J., Vermeulen, R. J., van der Knaap, M. S., Euser, A. M., van der Valk, P. & Kaspers, G. J. L., 2014, In : Journal of Pediatric Hematology / Oncology. 36, 7, p. E416-E422

Research output: Contribution to JournalArticleAcademicpeer-review

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

Wolf, N. I., Vanderver, A., van Spaendonk, R. M. L., Schiffmann, R., Brais, B., Bugiani, M., Sistermans, E. A., Catsman-Berrevoets, C., Kros, J. M., Pinto, P. S., Pohl, D., Tirupathi, S., Stromme, P., de Grauw, T., Fribourg, S., Demos, M., Pizzino, A., Naidu, S., Guerrero, K., van der Knaap, M. S. & 1 othersBernard, G., 2014, In : Neurology. 83, 21, p. 1898-1905

Research output: Contribution to JournalArticleAcademicpeer-review

Diffuse leukoencephalopathy with spheroids: Biopsy findings and a novel mutation

Levi, J., Tiedt, S., Arzberger, T., Biskup, S., Schuberth, M., Stenglein-Krapf, G., Kreth, F. W., Hogen, T., la Fougere, C., Linn, J., van der Knaap, M. S., Giese, A., Kretzschmar, H. A. & Danek, A., 2014, In : Clinical Neurology and Neurosurgery. 122, p. 113-115

Research output: Contribution to JournalArticleAcademicpeer-review

Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene

Blumkin, L., Halevy, A., Ben-Ami-Raichman, D., Dahari, D., Haviv, A., Sarit, C., Lev, D., van der Knaap, M. S., Lerman-Sagie, T. & Leshinsky-Silver, E., 2014, In : Neurogenetics. 15, 2, p. 107-113

Research output: Contribution to JournalArticleAcademicpeer-review

Dystonia
Phenotype
Mutation
Atrophy
Spastic Paraparesis

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation

Hamilton, E. M. C., Polder, E., Vanderver, A., Naidu, S., Schiffmann, R., Fisher, K., Raguz, A. B., Blumkin, L., van Berkel, C. G. M., Waisfisz, Q., Simons, C., Taft, R. J., Abbink, G. E. M., Wolf, N. I. & van der Knaap, M. S., 2014, In : Brain. 137, p. 1921-1930

Research output: Contribution to JournalArticleAcademicpeer-review

Genetic Association Studies
Basal Ganglia
Cerebellum
Atrophy
Phenotype

Lama2 Mutations in Adult- Onset Muscular Dystrophy with Leukoencephalopathy

Kevelam, S. H. G., van Engelen, B. G. M., van Berkel, C. G. M., Kusters, B. & van der Knaap, M. S., 2014, In : Muscle and Nerve. 49, 4, p. 616-617

Research output: Contribution to JournalArticleAcademicpeer-review

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

van Berge, L., Hamilton, E. M. C., Linnankivi, T., Uziel, G., Steenweg, M. E., Isohanni, P., Wolf, N. I., Krageloh-Mann, I., Brautaset, N. J., Andrews, P. I., Jong, B. A., al Ghamdi, M., van Wieringen, W. N., Tannous, B. A., Hulleman, E., Wurdinger, T., van Berkel, C. G. M., Polder, E., Abbink, T. E. M., Struys, E. A. & 2 othersScheper, G. C. & van der Knaap, M. S., 2014, In : Brain. 137, p. 1019-1029

Research output: Contribution to JournalArticleAcademicpeer-review

Aspartate-tRNA Ligase
Mutation
Therapeutics
Genetic Association Studies
Phenotype

Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus

Livingston, J. H., Mayer, J., Jenkinson, E., Kasher, P., Stivaros, S., Berger, A., Cordelli, D. M., Ferreira, P., Jefferson, R., Kutschke, G., Lundberg, S., Ounap, K., Prabhakar, P., Soh, C., Stewart, H., Stone, J., van der Knaap, M. S., Van Esch, H., van Mol, C., Wakeling, E. & 3 othersWhitney, A., Rice, G. I. & Crow, Y. J., 2014, In : Neuropediatrics. 45, 3, p. 175-182

Research output: Contribution to JournalArticleAcademicpeer-review

Leukoencephalopathies
Nervous System Diseases
Cysts
Telomere
Basal Ganglia

Mutations in APOPT1, Encoding a Mitochondria! Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

Melchionda, L., Haack, T. B., Hardy, S., Abbink, G. E. M., Fernandez-Vizarra, E., Lamantea, E., Marchet, S., Morandi, L., Moggio, M., Carrozzo, R., Torraco, A., Diodato, D., Strom, T. M., Meitinger, T., Tekturk, P., Yapici, Z., Al-Murshedi, F., Stevens, R., Rodenburg, R. J., Lamperti, C. & 9 othersArdissone, A., Moroni, I., Uziel, G., Prokisch, H., Taylor, R. W., Bertini, E., van der Knaap, M. S., Ghezzi, D. & Zeviani, M., 2014, In : American Journal of Human Genetics. 95, 3, p. 315-325

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access
Cytochrome-c Oxidase Deficiency
Leukoencephalopathies
Mitochondria
Mitochondrial Diseases
Oxidoreductases