Amsterdam Neuroscience - Cellular and Molecular Mechanisms

Research Output

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

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Friedman, J., Smith, D. E., Issa, M. Y., Stanley, V., Wang, R., Mendes, M. I., Wright, M. S., Wigby, K., Hildreth, A., Crawford, J. R., Koehler, A. E., Chowdhury, S., Nahas, S., Zhai, L., Xu, Z., Lo, W-S., James, K. N., Musaev, D., Accogli, A., Guerrero, K. & 9 others, Tran, L. T., Omar, T. E. I., Ben-Omran, T., Dimmock, D., Kingsmore, S. F., Salomons, G. S., Zaki, M. S., Bernard, G. & Gleeson, J. G., 1 Dec 2019, In : Nature Communications. 10, 1, 707.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype

Theil, A. F., Botta, E., Raams, A., Smith, D. E. C., Mendes, M. I., Caligiuri, G., Giachetti, S., Bione, S., Carriero, R., Liberi, G., Zardoni, L., Swagemakers, S. M. A., Salomons, G. S., Sarasin, A., Lehmann, A., van der Spek, P. J., Ogi, T., Hoeijmakers, J. H. J., Vermeulen, W. & Orioli, D., 1 Aug 2019, In : American journal of human genetics. 105, 2, p. 434-440

Research output: Contribution to journalArticleAcademicpeer-review

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 others, Salomons, G. S. & Mochel, F., 12 Mar 2019, In : Neurology. 92, 11, p. E1225-E1237

Research output: Contribution to journalArticleAcademicpeer-review

Binding of labeled estrogen-albumin conjugates in breast cancer

van Marie, J., Baak, J. P. A., Meijer, C. J. L. M. & Lindeman, J., 2018, Localization of Putative Steroid Receptors: Volume II: Clinically Oriented Studies. CRC Press, p. 113-148 (Localization of Putative Steroid Receptors: Volume II: Clinically Oriented Studies).

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

Biogenesis and function of extracellular vesicles in cancer

Bebelman, M. P., Smit, M. J., Pegtel, D. M. & Baglio, S. R., 1 Aug 2018, In : Pharmacology and Therapeutics. 188, p. 1-11 11 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

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

Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals

Coleman, J. R. I., Bryois, J., Gaspar, H. L. A., Jansen, P. R., Savage, J. E., Skene, N., Plomin, R., Muñoz-Manchado, A. B., Linnarsson, S., Crawford, G., Hjerling-Leffler, J., Sullivan, P. F., Posthuma, D. & Breen, G., 1 Feb 2019, In : Molecular Psychiatry. 24, 2, p. 182-197 16 p.

Research output: Contribution to journalArticleAcademicpeer-review

Biological basis for the use of autologous bone marrow stromal cells in the treatment of congenital pseudarthrosis of the tibia

Granchi, D., Devescovi, V., Baglìo, S. R., Leonardi, E., Donzelli, O., Magnani, M., Stilli, S., Giunti, A. & Baldini, N., Mar 2010, In : Bone. 46, 3, p. 780-8 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Biomarker-based prognosis for people with mild cognitive impairment (ABIDE): a modelling study

van Maurik, I. S., Vos, S. J., Bos, I., Bouwman, F. H., Teunissen, C. E., Scheltens, P., Barkhof, F., Frolich, L., Kornhuber, J., Wiltfang, J., Maier, W., Peters, O., Rüther, E., Nobili, F., Frisoni, G. B., Spiru, L., Freund-Levi, Y., Wallin, A. K., Hampel, H., Soininen, H. & 20 others, Tsolaki, M., Verhey, F., Kłoszewska, I., Mecocci, P., Vellas, B., Lovestone, S., Galluzzi, S., Herukka, S-K., Santana, I., Baldeiras, I., de Mendonça, A., Silva, D., Chetelat, G., Egret, S., Palmqvist, S., Hansson, O., Visser, P. J., Berkhof, J., van der Flier, W. M. & Alzheimer's Disease Neuroimaging Initiative, 1 Nov 2019, In : Lancet Neurology. 18, 11, p. 1034-1044

Research output: Contribution to journalArticleAcademicpeer-review

Bioreactor-scale production and one-step purification of Epstein-Barr nuclear antigen 1 expressed in baculovirus-infected insect cells

Meij, P., Vervoort, M. B., de Gooijer, K., Bloemena, E., Meijer, C. J. & Middeldorp, J. M., Nov 2000, In : Protein expression and purification. 20, 2, p. 324-33 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

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

Bortezomib maintenance after R-CHOP, cytarabine and autologous stem cell transplantation in newly diagnosed patients with mantle cell lymphoma, results of a randomised phase II HOVON trial

Doorduijn, J. K., Zijlstra, J. M., Lugtenburg, P. J., Kersten, M. J., Böhmer, L. H., Minnema, M. C., MacKenzie, M. A., van Marwijk Kooij, R., de Jongh, E., Snijders, T. J. F., de Weerdt, O., van Gelder, M., Hoogendoorn, M., Leys, R. B. L., Kibbelaar, R. E., de Jong, D., Chitu, D. A., Van’t Veer, M. B. & Kluin-Nelemans, H. C., 1 Jan 2020, (Accepted/In press) In : British Journal of Haematology.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Brain miliary enhancement

Bot, J. C. J., Mazzai, L., Hagenbeek, R. E., Ingala, S., van Oosten, B., Sanchez-Aliaga, E. & Barkhof, F., 2020, In : Neuroradiology. 62, 3, 18 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

Brain sexual differentiation and effects of cross-sex hormone treatment in transgenders: A resting-state functional magnetic resonance study

Nota, N. M., Burke, S. M., den Heijer, M., Soleman, R. S., Lambalk, C. B., Cohen-Kettenis, P. T., Veltman, D. J. & Kreukels, B. P., Sep 2016, In : Psychoneuroendocrinology. 71, p. 17-17

Research output: Contribution to journalArticleAcademicpeer-review

Breast Implant Prevalence in the Dutch Female Population Assessed by Chest Radiographs

de Boer, M., van Middelkoop, M., Hauptmann, M., van der Bijl, N., Bosmans, J. A. W., Hendriks-Brouwer, N., Schop, S. J., de Boer, J. P., Hijmering, N. J., Overbeek, L. I. H., Lobbes, M. B. I., Klazen, C. A. H., de Jong, D., Rakhorst, H. A., van der Hulst, R. R. W. J. & van Leeuwen, F. E., 2020, In : Aesthetic Surgery Journal. 40, 2, p. 156-164 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Breast implants and the risk of anaplastic large-cell lymphoma in the breast

de Boer, M., van Leeuwen, F. E., Hauptmann, M., Overbeek, L. I. H., de Boer, J. P., Hijmering, N. J., Sernee, A., Klazen, C. A. H., Lobbes, M. B. I., van der Hulst, R. R. W. J., Rakhorst, H. A. & de Jong, D., 2018, In : JAMA Oncology. 4, 3, p. 335-341

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

Can hysterosalpingo foam sonography (HyFoSy) replace hysterosalpingography (HSG) as first choice tubal patency test: a randomized comparison (foam study)?

van Welie, N., van Rijswijk, J., Dreyer, K., van Hooff, M. H. A., Verhoeve, H., de Bruin, J. P., Mol, F., van Baal, M., van de Laar, B., Lambalk, N. B., van Wely, M., Stoker, J., Mol, B. W. & Mijatovic, V., Sep 2019, In : Fertility and Sterility. 112, 3, p. e2-e3

Research output: Contribution to journalArticleAcademic

Cannabinoids modulate the P-type high-voltage-activated calcium currents in purkinje neurons

Fisyunov, A., Tsintsadze, V., Min, R., Burnashev, N. & Lozovaya, N., Sep 2006, In : Journal of Neurophysiology. 96, 3, p. 1267-77 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Capturing Endocytic Segregation Events with HPF-CLEM

Brown, E., Van Weering, J., Sharp, T., Mantell, J. & Verkade, P., 2012, Methods in Cell Biology. Academic Press Inc., p. 175-201 27 p. (Methods in Cell Biology; vol. 111).

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

Cardiovascular secrets of secretory phospholipase A(2)

Hack, C. E. & Niessen, H. W. M., Jun 2002, In : European Journal of Clinical Investigation. 32, 6, p. 381-2 2 p.

Research output: Contribution to journalArticleAcademicpeer-review

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

Bugiani, M., Kevelam, S. H., Bakels, H. S., Waisfisz, Q., Ceuterick-de Groote, C., Niessen, H. W. M., Abbink, T. E. M., Oberstein, S. A. M. J. L. & van der Knaap, M. S., 25 Oct 2016, In : Neurology. 87, 17, p. 1777-1786 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy

Sharma, S., Singh, P., Fernandez-Vizarra, E., Zeviani, M., van der Knaap, M. S. & Saran, R. K., 2018, In : Journal of Child Neurology. 33, 6, p. 428-431

Research output: Contribution to journalArticleAcademicpeer-review

CCND2 and CCND3 hijack immunoglobulin light-chain enhancers in cyclin D12 mantle cell lymphoma

Martín-Garcia, D., Navarro, A., Valdés-Mas, R., Clot, G., Gutiérrez-Abril, J., Prieto, M., Ribera-Cortada, I., Woroniecka, R., Rymkiewicz, G., Bens, S., de Leval, L., Rosenwald, A., Ferry, J. A., Hsi, E. D., Fu, K., Delabie, J., Weisenburger, D., de Jong, D., Climent, F., O'Connor, S. J. & 17 others, Swerdlow, S. H., Torrents, D., Beltran, S., Espinet, B., González-Farré, B., Veloza, L., Costa, D., Matutes, E., Siebert, R., Ott, G., Quintanilla-Martinez, L., Jaffe, E. S., López-Otín, C., Salaverria, I., Puente, X. S., Campo, E. & Beà, S., 1 Jan 2019, In : Blood. 133, 9, p. 940-951 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Cell adhesion and matricellular support by astrocytes of the tripartite synapse

Hillen, A. E. J., Burbach, J. P. H. & Hol, E. M., 2018, In : Progress in Neurobiology. 165-167, p. 66-86

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

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

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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 Development: The impact of Preterm Birth and Comorbidities

Tam, E., Benders, M. & Heine, VM., 12 Jul 2016, Fetal and Neonatal Physiology, 2-Volume Set. Polin, RA., Abman, SH., Rowitch, D. & Benitz, WE. (eds.). 5 ed. Elsevier, p. 1350-1362 Chapter 135

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

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

Cerebral amyloid angiopathy severity is linked to dilation of juxtacortical perivascular spaces

Van Veluw, S. J., Biessels, G. J., Bouvy, W. H., Spliet, W. G. M., Zwanenburg, J. J. M., Luijten, P. R., Macklin, E. A., Rozemuller, A. J. M., Gurol, M. E., Greenberg, S. M., Viswanathan, A. & Martinez-Ramirez, S., 1 Mar 2016, In : Journal of Cerebral Blood Flow and Metabolism. 36, 3, p. 576-580 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Cerebral amyloid burden is associated with white matter hyperintensity location in specific posterior white matter regions

Weaver, N. A., Doeven, T., Barkhof, F., Biesbroek, J. M., Groeneveld, O. N., Kuijf, H. J., Prins, N. D., Scheltens, P., Teunissen, C. E., van der Flier, W. M., Biessels, G. J. & TRACE-VCI study group, 1 Dec 2019, In : Neurobiology of Aging. 84, p. 225-234 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Cerebral blood flow and cognitive functioning in patients with disorders along the heart–brain axis: Cerebral blood flow and the heart–brain axis

Leeuwis, A. E., Hooghiemstra, A. M., Bron, E. E., Kuipers, S., Oudeman, E. A., Kalay, T., Brunner-La Rocca, H. P., Kappelle, L. J., van Oostenbrugge, R. J., Greving, J. P., Niessen, W. J., van Buchem, M. A., van Osch, M. J. P., van Rossum, A. C., Prins, N. D., Biessels, G. J., Barkhof, F., van der Flier, W. M. & Heart–Brain Connection consortium, 1 Jan 2020, (Accepted/In press) In : Alzheimer's and Dementia: Translational Research and Clinical Interventions.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Cerebral Corpora amylacea are dense membranous labyrinths containing structurally preserved cell organelles

Navarro, P. P., Genoud, C., Castaño-Díez, D., Graff-Meyer, A., Lewis, A. J., de Gier, Y., Lauer, M. E., Britschgi, M., Bohrmann, B., Frank, S., Hench, J., Schweighauser, G., Rozemuller, A. J. M., van de Berg, W. D. J., Stahlberg, H. & Shahmoradian, S. H., 1 Dec 2018, In : Scientific Reports. 8, 1, 18046.

Research output: Contribution to journalArticleAcademicpeer-review

Cerebral organoids: a human model for AAV capsid selection and therapeutic transgene efficacy in the brain.

Depla, D. J., Sogorb-Gonzalez, M., Mulder, L., Heine, VM., Konstantinova, P., van Deventer, S. J., Wolthers, KC., Pajkrt, D., Sridhar, A. & Evers, M. M., 1 Jun 2020, In : Molecular Therapy - Methods and Clinical Development.

Research output: Contribution to journalArticleAcademicpeer-review

Cerebrospinal fluid biomarkers of neurodegeneration, synaptic integrity, and astroglial activation across the clinical Alzheimer's disease spectrum

Bos, I., Vos, S., Verhey, F., Scheltens, P., Teunissen, C., Engelborghs, S., Sleegers, K., Frisoni, G., Blin, O., Richardson, J. C., Bordet, R. G., Tsolaki, M., Popp, J., Peyratout, G., Martinez-Lage, P., Tainta, M., Lleó, A., Johannsen, P., Freund-Levi, Y., Frölich, L. & 12 others, Vandenberghe, R., Westwood, S., Dobricic, V., Barkhof, F., Legido-Quigley, C., Bertram, L., Lovestone, S., Streffer, J., Andreasson, U., Blennow, K., Zetterberg, H. & Visser, P. J., 1 May 2019, In : Alzheimer's and Dementia. 15, 5, p. 644-654 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Cervical cancer detection by DNA methylation analysis in urine

Snoek, B. C., Splunter, A. P. V., Bleeker, M. C. G., Ruiten, M. C. V., Heideman, D. A. M., Rurup, W. F., Verlaat, W., Schotman, H., Gent, M. V., Trommel, N. E. V. & Steenbergen, R. D. M., 28 Feb 2019, In : Scientific Reports. 9, 1, p. 3088

Research output: Contribution to journalArticleAcademicpeer-review

Cervical cancer prevention based on biomarkers

van Zummeren, M., 2018, 218 p.

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

Cervical cancer risk in HPV-positive women after a negative FAM19A4/mir124-2 methylation test: A post hoc analysis in the POBASCAM trial with 14 year follow-up

De Strooper, L. M. A., Berkhof, J., Steenbergen, R. D. M., Lissenberg-Witte, B. I., Snijders, P. J. F., Meijer, C. J. L. M. & Heideman, D. A. M., 15 Sep 2018, In : International Journal of Cancer. 143, 6, p. 1541-1548 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

CGHcall: Calling aberrations for array CGH tumor profiles

van de Wie, M. A., Kim, K. I., Vosse, S. J., van Wieringen, W. N., Wilting, S. M. & Ylstra, B., 1 Apr 2007, In : Bioinformatics. 23, 7, p. 892-894 3 p.

Research output: Contribution to journalArticleAcademicpeer-review

CGHMultiArray: Exact P-values for multi-array comparative genomic hybridization data

van de Wiel, M. A., Smeets, S. J., Brakenhoff, R. H. & Ylstra, B., 15 Jul 2005, In : Bioinformatics. 21, 14, p. 3193-3194 2 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

CGHregions: Dimension reduction for array CGH data with minimal information loss

Van De Wiel, M. A. & Van Wieringen, W. N., 23 Jul 2007, In : Cancer Informatics. 3, p. 55-63 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Changes in intracellular folate metabolism during high-dose methotrexate and Leucovorin rescue therapy in children with acute lymphoblastic leukemia

Oosterom, N., de Jonge, R., Smith, D. E. C., Pieters, R., Tissing, W. J. E., Fiocco, M., van Zelst, B. D., van den Heuvel-Eibrink, M. M. & Heil, S. G., 2019, In : PLoS ONE. 14, 9, e0221591.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Characterization of brainstem TDP-43 distribution in FTD cases with ALS features

Scarioni, M., Gami-Patel, P., Timar, Y. S., Rozemuller, A. J., Hoozemans, J. J., Aronica, E., Raaphorst, J., Pijnenburg, Y. A. & Dijkstra, A. A., Jul 2019, In : European Journal of Neurology. 26, p. 436-436

Research output: Contribution to journalMeeting AbstractAcademic

Characterization of Mechanical Signature of Eutopic Endometrial Stromal Cells of Endometriosis Patients

Altayyeb, A., Othman, E., Khashbah, M., Esmaeel, A., El-Mokhtar, M., Lambalk, C., Mijatovic, V. & Abdelgawad, M., 1 Jan 2020, In : Reproductive Sciences. 27, 1, p. 364-374 11 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