Amsterdam Neuroscience - Cellular and Molecular Mechanisms

Research Output

2017

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
File
50 Downloads (Pure)

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

Donor macrophages and remyelination in metachromatic leukodystrophy

Wolf, N., Westerveld, A., van Rappard, D., Breur, M., Vanderver, A., van der Knaap, M. S., Boelens, J. J. & Bugiani, M., Jun 2017, In : GLIA. 65, p. E542-E542

Research output: Contribution to journalMeeting AbstractAcademic

Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG

Schorling, D. C., Rost, S., Lefeber, DI. J., Brady, L., Müller, C. R., Korinthenberg, R., Tarnopolsky, M., Bönnemann, C. G., Rodenburg, R. J., Bugiani, M., Beytia, M., Krüger, M., Van Der Knaap, M. & Kirschner, J., 15 Aug 2017, In : Neurology. 89, 7, p. 657-664 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Early golgi abnormalities and neurodegeneration upon loss of presynaptic proteins munc18-1, syntaxin-1, or SNAP-25

Santos, T. C., Wierda, K., Broeke, J. H., Toonen, R. F. & Verhage, M., 26 Apr 2017, In : Journal of Neuroscience. 37, 17, p. 4525-4539 15 p.

Research output: Contribution to journalArticleAcademicpeer-review

Elevated postoperative endogenous GLP-1 levels mediate effects of roux-en-Y gastric bypass on neural responsivity to food cues

Ten Kulve, J. S., Veltman, D. J., Gerdes, V. E. A., Van Bloemendaal, L., Barkhof, F., Deacon, C. F., Holst, J. J., Drent, M. L., Diamant, M. & IJzerman, R. G., 1 Nov 2017, In : Diabetes Care. 40, 11, p. 1522-1529 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Epilepsy and abnormal potassium dynamics upon loss of function of the astrocyte specific protein MLC1

Min, R., Dubey, M., Brouwers, E., Hamilton, E. M. C., Stiedl, O., Bugiani, M., Koch, H., Wykes, R. C., Mansvelder, H. D. & van der Knaap, M. S., Jun 2017, In : GLIA. 65, p. E290-E291

Research output: Contribution to journalMeeting AbstractAcademic

Experimental evidence of oxidative stress in patients with L-2-hydroxyglutaric aciduria and that L-carnitine attenuates in vitro DNA damage caused by D-2-hydroxyglutaric and L-2-hydroxyglutaric acids

Rodrigues, D. G. B., de Moura Coelho, D., Sitta, Â., Jacques, C. E. D., Hauschild, T., Manfredini, V., Bakkali, A., Struys, E. A., Jakobs, C., Wajner, M. & Vargas, C. R., 1 Aug 2017, In : Toxicology in Vitro. 42, p. 47-53 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

ExploreASL: image processing toolbox for multi-center arterial spin labeling population analyses

Mutsaerts, HJMM., Petr, J., Lysvik, E., Schrantee, A., Shirzadi, Z., Zelaya, F., Groote, I., O'Daly, O., Kuijer, J., de Bresser, J., Richard, E., Caan, M., van Osch, M., Golay, X., Reneman, L., Macintosh, B., Masellis, M., Hendrikse, J., Barkhof, F., Bjørnerud, A. & 3 others, Nederveen, A., Asllani, I. & Groot, P., 2017.

Research output: Contribution to conferencePaperAcademic

Folic Acid Impairs the Uptake of 5-Methyltetrahydrofolate in Human Umbilical Vascular Endothelial Cells

Smith, D., Hornstra, J., Rocha, M., Jansen, G., Assaraf, Y., Lasry, I., Blom, H. & Smulders, Y. M., 1 Oct 2017, In : Journal of Cardiovascular Pharmacology. 70, 4, p. 271-275 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Fronto-limbic structural and functional changes and depression in multiple sclerosis: is there a relationship with cognition?

van Geest, Q., Boeschoten, R. E., Keijzer, M. J., Steenwijk, M. D., Pouwels, P. J. W., Smit, J. H., Uitdehaag, B. M. J., Van Oppen, P., Geurts, J. J. G. & Hulst, H. E., Jul 2017, In : Multiple Sclerosis Journal. 23, 8, p. NP3-NP3

Research output: Contribution to journalMeeting AbstractAcademic

Functional mapping and annotation of genetic associations with FUMA

Watanabe, K., Taskesen, E., Van Bochoven, A. & Posthuma, D., 1 Dec 2017, In : Nature Communications. 8, 1, 1826.

Research output: Contribution to journalArticleAcademicpeer-review

GeneBreak: Detection of recurrent DNA copy number aberration-associated chromosomal breakpoints within genes

Fijneman, R. J. A., van den Broek, E., van Lieshout, S., Rausch, C., Ylstra, B., van de Wiel, M. A., Meijer, G. A. & Abeln, S., 1 Jan 2017, In : F1000Research. 5

Research output: Contribution to journalArticleAcademicpeer-review

Gene network reconstruction using global-local shrinkage priors

Leday, G. G. R., De Gunst, M. C. M., Kpogbezan, G. B., Van Der Vaart, A. W., Van Wieringen, W. N. & Van De Wiel, M. A., 1 Mar 2017, In : Annals of Applied Statistics. 11, 1, p. 41-68 28 p.

Research output: Contribution to journalArticleAcademicpeer-review

Gene-set analysis shows association between FMRP targets and autism spectrum disorder

Jansen, A., Dieleman, G. C., Smit, A. B., Verhage, M., Verhulst, F. C., Polderman, T. J. C. & Posthuma, D., 1 Jun 2017, In : European Journal of Human Genetics. 25, 7, p. 863-868 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Genetically-informed patient selection for iPSC studies of complex diseases may aid in reducing cellular heterogeneity

Hoekstra, S. D., Stringer, S., Heine, V. M. & Posthuma, D., 13 Jun 2017, In : Frontiers in Cellular Neuroscience. 11, 164.

Research output: Contribution to journalArticleAcademicpeer-review

Genetic and Metabolic Disorders of the White Matter

Vanderver, A. & Wolf, N. I., 2017, Swaiman's Pediatric Neurology: Principles and Practice: Sixth Edition. Elsevier Inc., p. 747-758 (Swaiman's Pediatric Neurology: Principles and Practice: Sixth Edition).

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

Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits

Hammerschlag, A. R., Stringer, S., De Leeuw, C. A., Sniekers, S., Taskesen, E., Watanabe, K., Blanken, T. F., Dekker, K., Te Lindert, B. H. W., Wassing, R., Jonsdottir, I., Thorleifsson, G., Stefansson, H., Gislason, T., Berger, K., Schormair, B., Wellmann, J., Winkelmann, J., Stefansson, K., Oexle, K. & 2 others, Van Someren, E. J. W. & Posthuma, D., 1 Nov 2017, In : Nature Genetics. 49, 11, p. 1584-1592 9 p.

Research output: Contribution to journalArticleAcademicpeer-review