Amsterdam Neuroscience - Cellular and Molecular Mechanisms

Research Output

2016

TUBB4A -Related Leukodystrophy

Nahhas, N., Conant, A., Hamilton, E., Curiel, J., Simons, C., van der Knaap, M. & Vanderver, A., 2016, University of Washington, Seattle.

Research output: Book/ReportBookAcademic

TUBB4A-Related Leukodystrophy

Nahhas, N., Conant, A., Hamilton, EMC., Curiel, J., Simons, C., van der Knaap, MS. & Vanderver, A., 3 Nov 2016, GeneReviews® [Internet]. Pagon, RA., Adam, MP., Ardinger, HH. & E. A. (eds.). Seattle (WA), USA: University of Washington, Seattle, Vol. 1993-2017.

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Update on Leukodystrophies: A Historical Perspective and Adapted Definition

Kevelam, S. H., Steenweg, M. E., Srivastava, S., Helman, G., Naidu, S., Schiffmann, R., Blaser, S., Vanderver, A., Wolf, N. I. & van der Knaap, M. S., Nov 2016, In : Neuropediatrics. 47, 6, p. 349-354

Research output: Contribution to journalArticleAcademicpeer-review

Whole Exome Sequencing in Patients with White Matter Abnormalities

Vanderver, A., Simons, C., Helman, G., Crawford, J., Wolf, N. I., Bernard, G., Pizzino, A., Schmidt, J. L., Takanohashi, A., Miller, D., Khouzam, A., Rajan, V., Ramos, E., Chowdhury, S., Hambuch, T., Ru, K., Baillie, G. J., Grimmond, S. M., Caldovic, L., Devaney, J. & 8 others, Bloom, M., Evans, S. H., Murphy, J. L. P., McNeill, N., Fogel, B. L., Schiffmann, R., van der Knaap, M. S. & Taft, R. J., Jun 2016, In : Annals of Neurology. 79, 6, p. 1031-1037

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

A data-driven statistical model that estimates measurement uncertainty improves interpretation of ADC reproducibility: A multi-site study of liver metastases

Pathak, R., Ragheb, H., Thacker, N. A., Morris, D. M., Amiri, H., Kuijer, J., Desouza, N. M., Heerschap, A. & Jackson, A., 1 Dec 2017, In : Scientific Reports. 7, 1, 14084.

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

Alpha-Synuclein Induces the Unfolded Protein Response in Parkinson's Disease SNCA Triplication iPSC-Derived Neurons

Heman-Ackah, S. M., Manzano, R., Hoozemans, J. J. M., Scheper, W., Flynn, R., Haerty, W., Cowley, S. A., Bassett, A. R. & Wood, M. J. A., 1 Jan 2017, In : Human Molecular Genetics. 26, 22, p. 4441-4450 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Altered eigenvector centrality is related to local resting-state network functional connectivity in patients with longstanding type 1 diabetes mellitus

van Duinkerken, E., Schoonheim, M. M., Ijzerman, R. G., Moll, A. C., Landeira-Fernandez, J., Klein, M., Diamant, M., Snoek, F. J., Barkhof, F. & Wink, A. M., Jun 2017, In : Human Brain Mapping. p. 3623–3636

Research output: Contribution to journalArticleAcademicpeer-review

Altered Sphingolipid Balance in Capillary Cerebral Amyloid Angiopathy

de Wit, N. M., Snkhchyan, H., den Hoedt, S., Wattimena, D., de Vos, R., Mulder, M. T., Walter, J., Martinez-Martinez, P., Hoozemans, J. J., Rozemuller, A. J. & de Vries, H. E., 2017, In : Journal of Alzheimer's Disease. 60, 3, p. 795-807 13 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

An empirical Bayes approach to network recovery using external knowledge

Kpogbezan, G. B., van der Vaart, A. W., van Wieringen, W. N., Leday, G. G. R. & van de Wiel, M. A., 1 Sep 2017, In : Biometrical Journal. 59, 5, p. 932-947 16 p.

Research output: Contribution to journalArticleAcademicpeer-review

An epigenome-wide association study meta-analysis of educational attainment

Karlsson Linnér, R., Marioni, R. E., Rietveld, C. A., Simpkin, A. J., Davies, N. M., Watanabe, K., Armstrong, N. J., Auro, K., Baumbach, C., Bonder, M. J., Buchwald, J., Fiorito, G., Ismail, K., Iurato, S., Joensuu, A., Karell, P., Kasela, S., Lahti, J., McRae, A. F., Mandaviya, P. R. & 51 others, Seppälä, I., Wang, Y., Baglietto, L., Binder, E. B., Harris, S. E., Hodge, A. M., Horvath, S., Hurme, M., Johannesson, M., Latvala, A., Mather, K. A., Medland, S. E., Metspalu, A., Milani, L., Milne, R. L., Pattie, A., Pedersen, N. L., Peters, A., Polidoro, S., Räikkönen, K., Severi, G., Starr, J. M., Stolk, L., Waldenberger, M., Eriksson, J. G., Esko, T., Franke, L., Gieger, C., Giles, G. G., Hägg, S., Jousilahti, P., Kaprio, J., Kähönen, M., Lehtimäki, T., Martin, N. G., Van Meurs, J. B. C., Ollikainen, M., Perola, M., Posthuma, D., Raitakari, O. T., Sachdev, P. S., Taskesen, E., Uitterlinden, A. G., Vineis, P., Wijmenga, C., Wright, M. J., Relton, C., Davey Smith, G., Deary, I. J., Koellinger, P. D. & Benjamin, D. J., 1 Dec 2017, In : Molecular Psychiatry. 22, 12, p. 1680-1690 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

APOE ε4 status is associated with white matter hyperintensities volume accumulation rate independent of AD diagnosis

Sudre, C. H., Cardoso, M. J., Frost, C., Barnes, J., Barkhof, F., Fox, N., Ourselin, S. & Alzheimer's Disease Neuroimaging Initiative, May 2017, In : Neurobiology of Aging. 53, p. 67-75 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Apolipoprotein E epsilon 4 affects cognition, but not brain structure and functioning in patients with longstanding type 1 diabetes

van Duinkerken, E., Klein, M., Mograbi, D. C., Barkhof, F., Moll, A. C., Diamant, M., Snoek, F. J., Snoek, F. J. & IJzerman, R. G., Sep 2017, In : Diabetologia. 60, p. S580-S580

Research output: Contribution to journalMeeting AbstractAcademic

Apolipoprotein E epsilon 4 Affects Cognition, but Not Brain Structure and Functioning in Patients with Long-Standing Type 1 Diabetes

Van Duinkerken, E., Klein, M., Mograbi, D. C., Barkhof, F., Moll, A. C., Diamant, M., Snoek, F. J. & Ij, R. G., 1 Jun 2017, In : Diabetes. 66, p. A470-A470

Research output: Contribution to journalMeeting AbstractAcademic

A Post Hoc Study on Gene Panel Analysis for the Diagnosis of Dystonia

van Egmond, M. E., Lugtenberg, C. H. A., Brouwer, O. F., Contarino, M. F., Fung, V. S. C., Heiner-Fokkema, M. R., van Hilten, J. J., van der Hout, A. H., Peall, K. J., Sinke, R. J., Roze, E., Verschuuren-Bemelmans, C. C., Willemsen, M. A., Wolf, N. I., Tijssen, M. A. & de Koning, T. J., Apr 2017, In : Movement Disorders. 32, 4, p. 569-575

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

Atypical creutzfeldt-jakob disease with prpamyloid plaques in white matter: Molecular characterization and transmission to bank voles show the M1 strain signature

Rossi, M., Saverioni, D., Di Bari, M., Baiardi, S., Lemstra, A. W., Pirisinu, L., Capellari, S., Rozemuller, A., Nonno, R. & Parchi, P., 10 Jan 2017, In : Acta neuropathologica communications. 5, 1, 87.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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

Van Der Knaap, M. S., Bugiani, M. & Kevelam, S. H., 2 May 2017, In : Neurology. 88, 18, p. 1776 1 p.

Research output: Contribution to journalComment/Letter to the editorAcademic

Author response: Acute intermittent porphyria-related leukoencephalopathy

Van Der Knaap, M. S. & Kevelam, S. H., 14 Feb 2017, In : Neurology. 88, 7, p. 718-719 2 p.

Research output: Contribution to journalLetterAcademicpeer-review

AUTOMATED SELECTION OF MULTIMODAL MRI BIOMARKERS FOR DIAGNOSIS OF DEMENTIA

Wottschel, V., Wink, A. M., Tijms, B. M., Collij, L., Kuijer, J., van der Flier, W. M., Scheltens, P. & Barkhof, F., Jul 2017, In : Alzheimers & Dementia. 13, 7, p. P417-P418

Research output: Contribution to journalArticleAcademicpeer-review

Better diagnostic signatures from RNAseq data through use of auxiliary co-data

Novianti, P. W., Snoek, B. C., Wilting, S. M. & Van De Wiel, M. A., 15 May 2017, In : Bioinformatics. 33, 10, p. 1572-1574 3 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
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Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy

Dorboz, I., Aiello, C., Simons, C., Stone, R. T., Niceta, M., Elmaleh, M., Abuawad, M., Doummar, D., Bruselles, A., Wolf, N. I., Travaglini, L., Boespflug-Tanguy, O., Tartaglia, M., Vanderver, A., Rodriguez, D. & Bertini, E., Oct 2017, In : Brain. 140, p. 2550-2556

Research output: Contribution to journalArticleAcademicpeer-review

Bioinformatic solutions for chromosomal copy number analysis in cancer

Scheinin, I., 2017, 130 p.

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

Open Access

Blood-based metabolic signatures in Alzheimer's disease

de Leeuw, F. A., Peeters, C. F. W., Kester, M. I., Harms, A. C., Struys, E. A., Hankemeier, T., van Vlijmen, H. W. T., van der Lee, S. J., van Duijn, C. M., Scheltens, P., Demirkan, A., van de Wiel, M. A., van der Flier, W. M. & Teunissen, C. E., 2017, In : Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring. 8, p. 196-207 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Cancer drug addiction is relayed by an ERK2-dependent phenotype switch

Kong, X., Kuilman, T., Shahrabi, A., Boshuizen, J., Kemper, K., Song, J. Y., Niessen, H. W. M., Rozeman, E. A., Foppen, M. H. G., Blank, C. U. & Peeper, D. S., 12 Oct 2017, In : Nature. 550, 7675, p. 270-274 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Central Review of Amyloid-Related Imaging Abnormalities in Two Phase III Clinical Trials of Bapineuzumab in Mild-To-Moderate Alzheimer's Disease Patients

Ketter, N., Brashear, H. R., Bogert, J., Di, J., Miaux, Y., Gass, A., Purcell, D. D., Barkhof, F. & Arrighi, H. M., 2017, In : Journal of Alzheimer's Disease. 57, 2, p. 557-573 17 p.

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

Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology

Zabinyakov, N., Bullivant, G., Cao, F., Fernandez Ojeda, M., Jia, Z. P., Wen, X. Y., Dowling, J. J., Salomons, G. S. & Mercimek-Andrews, S., 1 Oct 2017, In : PLoS ONE. 12, 10, e0186645.

Research output: Contribution to journalArticleAcademicpeer-review

Childhood white matter disorders: much more than just diseases of myelin

Bugiani, M. & van der Knaap, M. S., 1 Sep 2017, In : Acta Neuropathologica. 134, 3, p. 329-330 2 p.

Research output: Contribution to journalEditorialAcademic

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity

Mendes, M. I., Smith, D. E. C., Pop, A., Lennertz, P., Fernandez Ojeda, M. R., Kanhai, W. A., van Dooren, S. J. M., Anikster, Y., Barić, I., Boelen, C., Campistol, J., de Boer, L., Kariminejad, A., Kayserili, H., Roubertie, A., Verbruggen, K. T., Vianey-Saban, C., Williams, M. & Salomons, G. S., 1 May 2017, In : Human Mutation. 38, 5, p. 524-531 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Clinical presentation and management of dyskinetic cerebral palsy

Monbaliu, E., Himmelmann, K., Lin, J-P., Ortibus, E., Bonouvrié, L., Feys, H., Vermeulen, R. J. & Dan, B., Sep 2017, In : Lancet Neurology. 16, 9, p. 741-749 9 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Comparative gene expression study and pathway analysis of the human iris- and the retinal pigment epithelium

Bennis, A., Ten Brink, J. B., Moerland, P. D., Heine, V. M. & Bergen, A. A., 1 Aug 2017, In : PLoS ONE. 12, 8, e0182983.

Research output: Contribution to journalArticleAcademicpeer-review

Creatine in the central nervous system: From magnetic resonance spectroscopy to creatine deficiencies

Rackayova, V., Cudalbu, C., Pouwels, P. J. W. & Braissant, O., 15 Jul 2017, In : Analytical Biochemistry. 529, p. 144-157 14 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Cyst fluid from cystic, malignant brain tumors: A reservoir of nutrients, including growth factor-like nutrients, for tumor cells

Dahlberg, D., Struys, E. A., Jansen, E. E., Mørkrid, L., Midttun, Ø. & Hassel, B., 2017, In : Neurosurgery. 80, 6, p. 917-924

Research output: Contribution to journalArticleAcademicpeer-review

Deceptive morphologic and epigenetic heterogeneity in diffuse intrinsic pontine glioma

Bugiani, M., van Zanten, S. E. M. V., Caretti, V., Schellen, P., Aronica, E., Noske, D. P., Vandertop, W. P., Kaspers, G. J. L., van Vuurden, D. G., Wesseling, P. & Hulleman, E., 2017, In : Oncotarget. 8, 36, p. 60447-60452 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Defining brain volume cutoffs to identify clinically relevant atrophy in RRMS

Sormani, M. P., Kappos, L., Radue, E-W., Cohen, J., Barkhof, F., Sprenger, T., Piani Meier, D., Häring, D., Tomic, D. & De Stefano, N., Apr 2017, In : Multiple Sclerosis. 23, 5, p. 656-664 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Depression in multiple sclerosis: structural and functional disconnection in the fronto-limbic system

van Geest, Q., Boeschoten, R. E., Keijzer, M. J., Steenwijk, M. D., Pouwels, P. J. W., Smit, J. H., Uitdehaag, B. M. J., Geurts, J. J. G., van Oppen, P. & Hulst, H. E., Oct 2017, In : Multiple Sclerosis Journal. 23, p. 538-539

Research output: Contribution to journalMeeting AbstractAcademic

Design of the ExCersion-VCI study: The effect of aerobic exercise on cerebral perfusion in patients with vascular cognitive impairment

Leeuwis, A. E., Hooghiemstra, A. M., Amier, R., Ferro, D. A., Franken, L., Nijveldt, R., Kuijer, J. P. A., Bronzwaer, A. S. G. T., van Lieshout, J. J., Rietberg, M. B., Veerbeek, J. M., Huijsmans, R. J., Backx, F. J. G., Teunissen, C. E., Bron, E. E., Barkhof, F., Prins, N. D., Shahzad, R., Niessen, W. J., de Roos, A. & 5 others, van Osch, M. J. P., van Rossum, A. C., Biessels, G. J., van der Flier, W. M. & Heart Brain Connection study group, 1 Jun 2017, In : Alzheimer's and Dementia: Translational Research and Clinical Interventions. 3, 2, p. 157-165 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Determinants of patients' experiences with patientcenteredness in endometriosis care

Schreurs, A., Nelen, W., Kuchenbecker, W., Van De Ven, P., Van Der Houwen, L., Dancet, E., Apers, S., Lambalk, C. & Mijatovic, V., 2017, In : Human Reproduction. 32, p. i63

Research output: Contribution to journalArticleAcademicpeer-review

Developmental origins of limb developmental instability in human fetuses: Many abnormalities make the difference

ten Broek, C. M. A., Bots, J., Bugiani, M., Galis, F. & van Dongen, S., 1 Apr 2017, In : Symmetry. 9, 4, 51.

Research output: Contribution to journalArticleAcademicpeer-review

Development of a replication-deficient adenoviral vector-based vaccine candidate for the interception of HPV16- and HPV18-induced infections and disease

Khan, S., Oosterhuis, K., Wunderlich, K., Bunnik, E. M., Bhaggoe, M., Boedhoe, S., Karia, S., Steenbergen, R. D. M., Bosch, L., Serroyen, J., Janssen, S., Schuitemaker, H., Vellinga, J., Scheper, G., Zahn, R. & Custers, J., 15 Jul 2017, In : International Journal of Cancer. 141, 2, p. 393-404 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Development of the SIOPE DIPG network, registry and imaging repository: a collaborative effort to optimize research into a rare and lethal disease

Veldhuijzen van Zanten, S. E. M., Baugh, J., Chaney, B., De Jongh, D., Sanchez Aliaga, E., Barkhof, F., Noltes, J., De Wolf, R., Van Dijk, J., Cannarozzo, A., Damen-Korbijn, C. M., Lieverst, J. A., Colditz, N., Hoffmann, M., Warmuth-Metz, M., Bison, B., Jones, D. T. W., Sturm, D., Gielen, G. H., Jones, C. & 31 others, Hulleman, E., Calmon, R., Castel, D., Varlet, P., Giraud, G., Slavc, I., Van Gool, S., Jacobs, S., Jadrijevic-Cvrlje, F., Sumerauer, D., Nysom, K., Pentikainen, V., Kivivuori, S. M., Leblond, P., Entz-Werle, N., von Bueren, A. O., Kattamis, A., Hargrave, D. R., Hauser, P., Garami, M., Thorarinsdottir, H. K., Pears, J., Gandola, L., Rutkauskiene, G., Janssens, G. O., Torsvik, I. K., Perek-Polnik, M., Vandertop, W. P., Kaspers, G. J. L., van Vuurden, D. G. & on behalf of the members of the SIOPE DIPG Network, 1 Apr 2017, In : Journal of Neuro-Oncology. 132, 2, p. 255-266 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Diagnostic algorithm for relapsing acquired demyelinating syndromes in children

Hacohen, Y., Mankad, K., Chong, W. K., Barkhof, F., Vincent, A., Lim, M., Wassmer, E., Ciccarelli, O. & Hemingway, C., 18 Jul 2017, In : Neurology. 89, 3, p. 269-278 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Differential Maturation of the Two Regulated Secretory Pathways in Human iPSC-Derived Neurons

Emperador Melero, J., Nadadhur, A. G., Schut, D., Weering, J. V., Heine, V. M., Toonen, R. F. & Verhage, M., 14 Mar 2017, In : Stem Cell Reports. 8, 3, p. 659-672 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

Diffusion-weighted (DW) MRI in lung cancers: ADC test-retest repeatability

Weller, A., Papoutsaki, M. V., Waterton, J. C., Chiti, A., Stroobants, S., Kuijer, J., Blackledge, M., Morgan, V. & deSouza, N. M., 1 Nov 2017, In : European Radiology. 27, 11, p. 4552-4562 11 p.

Research output: Contribution to journalArticleAcademicpeer-review