Amsterdam Neuroscience - Cellular and Molecular Mechanisms

Research Output

2017

Profiling peripheral metabolic dysregulation in Alzheimer’s disease: The added value of multiple signatures. Alzheimer’s & Dementia

de Leeuw, F. A., Peeters, C. F. W., Kester, M. I., Harms, A. C., Hankemeier, T., Struys, E. A., Demirkan, A., Scheltens, P., van Vlijmen, H. W. T., van de Wiel, M. A., van Duijn, C. M., van der Flier, W. M. & Teunissen, C. E., Jun 2017, In : Alzheimers & Dementia. 13, 7, p. P1024-P1025

Research output: Contribution to journalMeeting AbstractAcademic

Prolactin levels during short- and long-term cross-sex hormone treatment: an observational study in transgender persons

Nota, N. M., Dekker, M. J. H. J., Klaver, M., Wiepjes, C. M., van Trotsenburg, M. A., Heijboer, A. C. & den Heijer, M., 1 Aug 2017, In : Andrologia. 49, 6, e12666.

Research output: Contribution to journalArticleAcademicpeer-review

Propionic acidemia as a cause of adult-onset dilated cardiomyopathy

Riemersma, M., Hazebroek, M. R., Helderman-Van Den Enden, A. T. J. M., Salomons, G. S., Ferdinandusse, S., Brouwers, M. C. G. J., Van Der Ploeg, L., Heymans, S., Glatz, J. F. C., Van Den Wijngaard, A., Krapels, I. P. C., Bierau, J. & Brunner, H. G., 1 Nov 2017, In : European Journal of Human Genetics. 25, 11, p. 1195-1201 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Proteomic and metabolomic analyses of vanishing white matter mouse astrocytes reveal deregulation of ER functions

Wisse, L. E., Penning, R., Zaal, E. A., van Berkel, C. G. M., ter Braak, T. J., Polder, E., Kenney, J. W., Proud, C. G., Berkers, C. R., Altelaar, M. A. F., Speijer, D., van der Knaap, M. S. & Abbink, T. E. M., 20 Dec 2017, In : Frontiers in Cellular Neuroscience. 11, 411.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations

Weeke, L. C., Brilstra, E., Braun, K. P., Zonneveld-Huijssoon, E., Salomons, G. S., Koeleman, B. P., van Gassen, K. L., van Straaten, H. L., Craiu, D. & de Vries, L. S., Mar 2017, In : European Journal of Paediatric Neurology. 21, 2, p. 396-403 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Rags2ridges: Ridge estimation of precision matrices from high-dimensional data

Peeters, CFW., Bilgrau, A. E. & van Wieringen, WN., 13 Apr 2017

Research output: Non-textual formSoftwareAcademic

Open Access

Rare and low-frequency coding variants alter human adult height

Marouli, E., Graff, M., Medina-Gomez, C., Lo, K. S., Wood, A. R., Kjaer, T. R., Fine, R. S., Lu, Y., Schurmann, C., Highland, H. M., Rüeger, S., Thorleifsson, G., Justice, A. E., Lamparter, D., Stirrups, K. E., Turcot, V., Young, K. L., Winkler, T. W., Esko, T., Karaderi, T. & 31 others, Locke, A. E., Masca, N. G. D., Ng, M. C. Y., Mudgal, P., Rivas, M. A., Vedantam, S., Mahajan, A., Guo, X., Abecasis, G., Aben, K. K., Adair, L. S., Alam, D. S., Albrecht, E., Allin, K. H., Allison, M., Amouyel, P., Appel, E. V., Arveiler, D., Asselbergs, F. W., Auer, P. L., Balkau, B., Banas, B., Bang, L. E., Benn, M., Bergmann, S., Bielak, L. F., Blüher, M., Li, J., Posthuma, D., van Schoor, N. M. & EPIC-InterAct Consortium, 9 Feb 2017, In : Nature. 542, 7640, p. 186-190 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Rare case of ribose 5 phosphate isomerase deficiency with slowly progressive leukoencephalopathy

Naik, N., Shah, A., Wamelink, M. M. C., Van Der Knaap, M. S. & Hingwala, D., 1 Sep 2017, In : Neurology. 89, 11, p. 1195-1196 2 p.

Research output: Contribution to journalShort surveyAcademicpeer-review

RARS2 mutations: Is pontocerebellar hypoplasia type 6 a mitochondrial encephalopathy?

van Dijk, T., van Ruissen, F., Jaeger, B., Rodenburg, R. J., Tamminga, S., van Maarle, M., Baas, F., Wolf, N. I. & Poll-The, B. T., 2017, JIMD Reports. Springer, Vol. 33. p. 87-92 (JIMD Reports).

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

Reduced vascular amyloid burden at microhemorrhage sites in cerebral amyloid angiopathy

van Veluw, S. J., Kuijf, H. J., Charidimou, A., Viswanathan, A., Biessels, G. J., Rozemuller, A. J. M., Frosch, M. P. & Greenberg, S. M., 1 Mar 2017, In : Acta Neuropathologica. 133, 3, p. 409-415 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

Adang, L. A., Sherbini, O., Ball, L., Bloom, M., Darbari, A., Amartino, H., DiVito, D., Eichler, F., Escolar, M., Evans, S. H., Fatemi, A., Fraser, J., Hollowell, L., Jaffe, N., Joseph, C., Karpinski, M., Keller, S., Maddock, R., Mancilla, E., McClary, B. & 21 others, Mertz, J., Morgart, K., Langan, T., Leventer, R., Parikh, S., Pizzino, A., Prange, E., Renaud, D. L., Rizzo, W., Shapiro, J., Suhr, D., Suhr, T., Tonduti, D., Waggoner, J., Waldman, A., Wolf, N. I., Zerem, A., Bonkowsky, J. L., Bernard, G., van Haren, K. & Vanderver, A., Sep 2017, In : Molecular Genetics and Metabolism. 122, 1-2

Research output: Contribution to journalArticleAcademicpeer-review

Ridge estimation of the VAR(1) model and its time series chain graph from multivariate time-course omics data

Miok, V., Wilting, S. M. & van Wieringen, W. N., 1 Jan 2017, In : Biometrical Journal. 59, 1, p. 172-191 20 p.

Research output: Contribution to journalArticleAcademicpeer-review

Sex Differences in White Matter Microstructure in the Human Brain Predominantly Reflect Differences in Sex Hormone Exposure

Van Hemmen, J., Saris, I. M. J., Cohen-Kettenis, P. T., Veltman, D. J., Pouwels, P. J. W. & Bakker, J., 1 May 2017, In : Cerebral Cortex. 27, 5, p. 2994-3001 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Simplified 3D protocol capable of generating early cortical neuroepithelium

Holmes, D. B. & Heine, V. M., 15 Mar 2017, In : Biology Open. 6, 3, p. 402-406 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome

Schossig, A., Bloch-Zupan, A., Lussi, A., Wolf, N. I., Raskin, S., Cohen, M., Giuliano, F., Jurgens, J., Krabichler, B., Koolen, D. A., de Macena Sobreira, N. L., Maurer, E., Muller-Bolla, M., Penzien, J., Zschocke, J. & Kapferer-Seebacher, I., Jan 2017, In : Journal of Medical Genetics. 54, 1, p. 54-62 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Stall in Canonical Autophagy-Lysosome Pathways Prompts Nucleophagy-Based Nuclear Breakdown in Neurodegeneration

Baron, O., Boudi, A., Dias, C., Schilling, M., Nölle, A., Vizcay-Barrena, G., Rattray, I., Jungbluth, H., Scheper, W., Fleck, R. A., Bates, G. P. & Fanto, M., 4 Dec 2017, In : Current Biology. 27, 23, p. 3626-3642.e6

Research output: Contribution to journalArticleAcademicpeer-review

Stem Cell Derived Retinal Pigment Epithelium: The Role of Pigmentation as Maturation Marker and Gene Expression Profile Comparison with Human Endogenous Retinal Pigment Epithelium

Bennis, A., Jacobs, J. G., Catsburg, L. A. E., ten Brink, J. B., Koster, C., Schlingemann, R. O., van Meurs, J., Gorgels, T. G. M. F., Moerland, P. D., Heine, V. M. & Bergen, A. A., 1 Oct 2017, In : Stem Cell Reviews and Reports. 13, 5, p. 659-669 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Streamlined 3D cerebellar differentiation protocol with optional 2D modification

Holmes, D. B. & Heine, V. M., 9 Dec 2017, In : Journal of Visualized Experiments. 2017, 130, e56888.

Research output: Contribution to journalArticleAcademicpeer-review

Structural MRI predictors of cognitive decline in MS

Eijlers, A. J., Dekker, I., Meijer, K. A., Uitdehaag, B. M., Barkhof, F., Geurts, J. J. & Schoonheim, M. M., Oct 2017, In : Multiple Sclerosis Journal. 23, p. 25-26

Research output: Contribution to journalMeeting AbstractAcademic

Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS

Taskesen, E., Mishra, A. K., Van Der Sluis, S., Ferrari, R., Veldink, J. H., Van Es, M. A., Smit, A. B., Posthuma, D. & Pijnenburg, Y., 1 Dec 2017, In : Scientific Reports. 7, 1, 8899.

Research output: Contribution to journalArticleAcademicpeer-review

Systemic Inflammation, Atherosclerosis and Coronary Thrombosis: Of Mice and Men

Fuijkschot, WW., 2017, 208 p.

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

Open Access

Targetable genetic signatures of immune evasion in lymphoma

Roemer, MGM., 2017, 160 p.

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

Open Access

Targeted screening of succinic semialdehyde dehydrogenase deficiency (SSADHD) employing an enzymatic assay for γ-hydroxybutyric acid (GHB) in biofluids

Wernli, C., Finochiaro, S., Volken, C., Andresen-Streichert, H., Buettler, A., Gygax, D., Salomons, G. S., Jansen, E. E., Ainslie, G. R., Vogel, K. R. & Gibson, K. M., 1 Jun 2017, In : Molecular Genetics and Metabolism Reports. 11, p. 81-89 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Tau phosphorylation as adaptive response to metabolic dysfunction in the brain

van der Harg, J. M., 2017, 153 p.

Research output: ThesisResearch external, graduation external

Open Access

Tau-positive nuclear indentations in P301S tauopathy mice

Fernández-Nogales, M., Santos-Galindo, M., Merchán-Rubira, J., Hoozemans, J. J. M., Rábano, A., Ferrer, I., Avila, J., Hernández, F. & Lucas, J. J., May 2017, In : Brain Pathology. 27, 3, p. 314-322 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Thalamic inhibition regulates critical-period plasticity in visual cortex and thalamus

Sommeijer, J-P., Ahmadlou, M., Saiepour, M. H., Seignette, K., Min, R., Heimel, J. A. & Levelt, C. N., Dec 2017, In : Nature Neuroscience. 20, 12, p. 1715-1721 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

The Action Radius of Oxytocin Release in the Mammalian CNS: From Single Vesicles to Behavior

Chini, B., Verhage, M. & Grinevich, V., 1 Nov 2017, In : Trends in Pharmacological Sciences. 38, 11, p. 982-991 10 p.

Research output: Contribution to journalReview articleAcademicpeer-review

The acute effect of beta-guanidinopropionic acid versus creatine or placebo in healthy men (ABC-Trial): A randomized controlled first-in-human trial

Karamat, F. A., Horjus, D. L., Haan, Y. C., van der Woude, L., Schaap, M. C., Oudman, I., van Montfrans, G. A., Nieuwland, R., Salomons, G. S., Clark, J. F. & Brewster, L. M., 1 Dec 2017, In : British Journal of Clinical Pharmacology. 83, 12, p. 2626-2635 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

The development, validation and application of automated home-cage based tasks to assess cognition in mice

Remmelink, E., 2017, 148 p.

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

The European DTI Study on Dementia - A multicenter DTI and MRI study on Alzheimer's disease and Mild Cognitive Impairment

Brueggen, K., Grothe, M. J., Dyrba, M., Fellgiebel, A., Fischer, F., Filippi, M., Agosta, F., Nestor, P., Meisenzahl, E., Blautzik, J., Frölich, L., Hausner, L., Bokde, A. L. W., Frisoni, G., Pievani, M., Klöppel, S., Prvulovic, D., Barkhof, F., Pouwels, P. J. W., Schröder, J. & 3 others, Hampel, H., Hauenstein, K. & Teipel, S., Jan 2017, In : NeuroImage. 144, Pt B, p. 305-308 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

The miR-1206 microRNA variant is associated with methotrexate-induced oral mucositis in pediatric acute lymphoblastic leukemia

Gutierrez-Camino, A., Oosterom, N., Den Hoed, M. A. H., Lopez-Lopez, E., Martin-Guerrero, I., Pluijm, S. M. F., Pieters, R., De Jonge, R., Tissing, W. J. E., Heil, S. G., García-Orad, A. & Van Den Heuvel-Eibrink, M. M., 2017, In : Pharmacogenetics and Genomics. 27, 8, p. 303-306 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

The multiple faces of TUBB4A mutations: from hypomyelination to adult dystonia

Hamilton, E. M., Bugiani, M., Wolf, N. I., Vanderver, A., Duncan, I., Abbink, T. E. & van der Knaap, M. S., Jul 2017, In : European Journal of Neurology. 24, p. 74-74

Research output: Contribution to journalMeeting AbstractAcademic

The Post-Docking Role of Synaptotagmin 1 and Munc 18-1 In Mouse Chromaffin Cells

Kedar, G. H., 2017

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

Therapeutic relevance of mTOR inhibition in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism

Vogel, K. R., Ainslie, G. R., Jansen, E. E. W., Salomons, G. S. & Gibson, K. M., 1 Jan 2017, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1863, 1, p. 33-42 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

The role of presynaptic proteins in maintaining neuronal viability

Cerveira Tavares dos Santos, T., 2017

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

The structural connectome of children with traumatic brain injury

Königs, M., van Heurn, L. W. E., Bakx, R., Vermeulen, R. J., Goslings, J. C., Poll-The, B. T., van der Wees, M., Catsman-Berrevoets, C. E., Oosterlaan, J. & Pouwels, P. J. W., 2017, (Accepted/In press) In : Human Brain Mapping.

Research output: Contribution to journalArticleAcademicpeer-review

The UPR reduces glucose metabolism via IRE1 signaling

van der Harg, J. M., van Heest, J. C., Bangel, F. N., Patiwael, S., van Weering, J. R. T. & Scheper, W., 1 Apr 2017, In : Biochimica et Biophysica Acta - Molecular Cell Research. 1864, 4, p. 655-665 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Tomosyn associates with secretory vesicles in neurons through its N- and C-terminal domains

Geerts, C. J., Mancini, R., Chen, N., Koopmans, F. T. W., Li, K. W., Smit, A. B., Van Weering, J. R. T., Verhage, M. & Groffen, A. J. A., 1 Jul 2017, In : PLoS ONE. 12, 7, e0180912.

Research output: Contribution to journalArticleAcademicpeer-review

Trafficking and secretion of neuropeptides in mouse hippocampal neurons

Farina, M., 2017, 166 p.

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

Trimethylation of H3K27 during human cerebellar development in relation to medulloblastoma

Mir, S. E., Smits, M., Biesmans, D., Julsing, M., Bugiani, M., Aronica, E., Kaspers, G. J. L., Cloos, J., Würdinger, T. & Hulleman, E., 2017, In : Oncotarget. 8, 45, p. 78978-78988 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes

Curiel, J., Bey, G. R., Takanohashi, A., Bugiani, M., Fu, X., Wolf, N. I., Nmezi, B., Schiffmann, R., Bugaighis, M., Pierson, T., Helman, G., Simons, C., van der Knaap, M. S., Liu, J., Padiath, Q. & Vanderver, A., 2017, In : Human Molecular Genetics. 26, 22, p. 4506-4518 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

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

Unfolded protein response activation in C9orf72 FTD cases

Hoozemans, J. J. M., van Dijken, I., Meeter, L. H., Mel-Hem, S., van Swieten, J. C. & Rozemuller, J. M., Feb 2017, In : Neuropathology and Applied Neurobiology. 43, p. 15-16

Research output: Contribution to journalArticleAcademicpeer-review

Unusual Twinning Resulting in Chimerism: A Systematic Review on Monochorionic Dizygotic Twins

Peters, H. E., König, T. E., Verhoeven, M. O., Schats, R., Mijatovic, V., Ket, J. C. F. & Lambalk, C. B., 1 Apr 2017, In : Twin Research and Human Genetics. 20, 2, p. 161-168 8 p.

Research output: Contribution to journalReview articleAcademicpeer-review

USING SUBTRACTION MRI TO IMPROVE THE DETECTION OF AMYLOID-RELATED IMAGING ABNORMALITIES WITH EDEMA OR EFFUSION (ARIA-E) IN PATIENTS AFFECTED BY ALZHEIMER’S DISEASE RECEIVING IMMUNOTHERAPY: AN INTER-OBSERVER STUDY

Ingala, S., Martens, R. M., Bechten, A., van Schijndel, R. A., Machado, V., de Jong, M. C., Sanchez, E., Arrighi, M., Purcell, D. D., Brashear, R., Wattjes, M. P. & Barkhof, F., Jul 2017, p. P425-P427.

Research output: Contribution to conferencePaperAcademic

Validation of an MRI Rating Scale for Amyloid-Related Imaging Abnormalities

Bechten, A., Wattjes, M. P., Purcell, D. D., Aliaga, E. S., Daams, M., Brashear, H. R., Arrighi, H. M. & Barkhof, F., 1 May 2017, In : Journal of Neuroimaging. 27, 3, p. 318-325 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Vascular Cognitive Impairment in a Memory Clinic Population: Rationale and Design of the “Utrecht-Amsterdam Clinical Features and Prognosis in Vascular Cognitive Impairment” (TRACE-VCI) Study.

Boomsma, J. M. F., Exalto, L. G., Barkhof, F., van den Berg, E. & de Bresser, J., 19 Apr 2017, In : JMIR: Research protocols. 6, 4

Research output: Contribution to journalArticleAcademicpeer-review

When East meets West: Comparative studies between neuromyelitis optica and multiple sclerosis through

Liu, Y., 2017

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

WHEN MEASURING HIPPOCAMPAL ATROPHY, DO THE SEGMENTATION NOISE DISTRIBUTIONS OF METHODS, AS DETERMINED BY THE BACK-TO-BACK REPRODUCIBILITY, HAVE GAUSSIAN DISTRIBUTIONS?

Cover, K. S., van Schijndel, R. A., Versteeg, A., Redolfi, A., Bosco, P., Damangir, S., van Dijk, B. W., Vrenken, H., Frisoni, G. B. & Barkhof, F., Jul 2017, p. P1109-P1111.

Research output: Contribution to conferenceAbstractAcademic