Amsterdam Neuroscience - Cellular and Molecular Mechanisms

Research Output

δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy

Van Rootselaar, A. F., Groffen, A. J., Vries, B. D., Callenbach, P. M. C., Santen, G. W. E., Koelewijn, S., Vijfhuizen, L. S., Buijink, A., Tijssen, M. A. J. & Van Den Maagdenberg, A. M. J. M., 1 Dec 2017, In : Neurology. 89, 23, p. 2341-2350 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

β-Catenin in the Adult Visual Cortex Regulates NMDA-Receptor Function and Visual Responses

Saiepour, M. H., Min, R., Kamphuis, W., Heimel, J. A. & Levelt, C. N., 1 Apr 2018, In : Cerebral Cortex. 28, 4, p. 1183-1194 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

Miyake, N., Wolf, N. I., Cayami, F. K., Crawford, J., Bley, A., Bulas, D., Conant, A., Bent, S. J., Gripp, K. W., Hahn, A., Humphray, S., Kimura-Ohba, S., Kingsbury, Z., Lajoie, B. R., Lal, D., Micha, D., Pizzino, A., Sinke, R. J., Sival, D., Stolte-Dijkstra, I. & 9 others, Superti-Furga, A., Ulrick, N., Taft, R. J., Ogata, T., Ozono, K., Matsumoto, N., Neubauer, B. A., Simons, C. & Vanderver, A., 1 Dec 2017, In : Neurogenetics. 18, 4, p. 185-194 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

X-gebonden mentale retardatie door creatine transporter defect

Translated title of the contribution: X-linked mental retardation due to creatine transporter defectDe Kort, S. W. K., De Man, S. A., Hoogeboom, A. J. M., Pouwels, P. J. W., Van Der Knaap, M. S., Mancini, G. M. S. & Salomons, G. S., 1 Oct 2006, In : Tijdschrift voor Kindergeneeskunde. 74, 5, p. 173-178 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Working memory in Dutch children with reading- and arithmetic-related LD

Van Der Sluis, S., Van Der Leij, A. & De Jong, P. F., 1 Jan 2005, In : Journal of Learning Disabilities. 38, 3, p. 207-221 15 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Whole-genome scanning by array comparative genomic hybridization as a clinical tool for risk assessment in chronic lymphocytic leukemia

Gunn, S. R., Mohammed, M. S., Gorre, M. E., Cotter, P. D., Kim, J., Bahler, D. W., Preobrazhensky, S. N., Higgins, R. A., Bolla, A. R., Ismail, S. H., de Jong, D., Eldering, E., van Oers, M. H. J., Mellink, C. H. M., Keating, M. J., Schlette, E. J., Abruzzo, L. V. & Robetorye, R. S., Sep 2008, In : The Journal of molecular diagnostics. 10, 5, p. 442-451

Research output: Contribution to journalArticleAcademicpeer-review

Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease

Green, L., Berry, I. R., Childs, A. M., Mccullagh, H., Jose, S., Warren, D., Craven, I., Camm, N., Prescott, K., van der Knaap, M. S., Sheridan, E. & Livingston, J. H., 1 Apr 2018, In : Neuropediatrics. 49, 2, p. 118-122 5 p.

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

Whole brain analysis of T2* weighted baseline FMRI signal in dementia

Rombouts, S. A. R. B., Scheltens, P., Kuijer, J. P. A. & Barkhof, F., 1 Dec 2007, In : Human Brain Mapping. 28, 12, p. 1313-1317 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

White matter hyperintensities mediate gray matter volume and processing speed relationship in cognitively unimpaired participants

Brugulat-Serrat, A., Salvadó, G., Operto, G., Cacciaglia, R., Sudre, C. H., Grau-Rivera, O., Suárez-Calvet, M., Falcon, C., Sánchez-Benavides, G., Gramunt, N., Minguillon, C., Fauria, K., Barkhof, F., Molinuevo, J. L., Gispert, J. D. & ALFA Study, 1 Apr 2020, In : Human Brain Mapping. 41, 5, p. 1309-1322 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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

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

Vti1a/b regulate synaptic vesicle and dense core vesicle secretion via protein sorting at the Golgi

Emperador-Melero, J., Huson, V., van Weering, J., Bollmann, C., Fischer von Mollard, G., Toonen, R. F. & Verhage, M., 2018, In : Nature Communications. 9, 1, 3421.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

VPS35 depletion does not impair presynaptic structure and function

Vazquez-Sanchez, S., Bobeldijk, S., Dekker, M. P., van Keimpema, L. & van Weering, J. R. T., 2018, In : Scientific Reports. 8, 1, 2996.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Voxelwise statistical methods to localize practice variation in brain tumor surgery

Eijgelaar, R., De Witt Hamer, P. C., Peeters, C. F. W., Barkhof, F., van Herk, M. & Witte, M. G., 1 Jan 2019, In : PLoS ONE. 14, 9, p. e0222939 e0222939.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Von Economo neurons are part of a larger neuronal population that are selectively vulnerable in C9orf72 frontotemporal dementia

Gami-Patel, P., van Dijken, I., van Swieten, J. C., Pijnenburg, Y. A. L., Rozemuller, A. J. M., Hoozemans, J. J. M., Dijkstra, A. A. & Netherlands Brain Bank, 1 Dec 2019, In : Neuropathology and Applied Neurobiology. 45, 7, p. 671-680

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

Vitamin D attenuates endothelial dysfunction in uremic rats and maintains human endothelial stability

Cuenca, M. V., Ferrantelli, E., Meinster, E., Pouw, S. M., Kovačević, I., de Menezes, R. X., Niessen, H. W., Beelen, R. H. J., Hordijk, P. L. & Vervloet, M. G., 1 Sep 2018, In : Journal of the American Heart Association. 7, 17, e008776.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Visual rating of age-related white matter changes on magnetic resonance imaging: Scale comparison, interrater agreement, and correlations with quantitative measurements

Kapeller, P., Barber, R., Vermeulen, R. J., Adèr, H., Scheltens, P., Freidl, W., Almkvist, O., Moretti, M., Del Ser, T., Vaghfeldt, P., Enzinger, C., Barkhof, F., Inzitari, D., Erkinjunti, T., Schmidt, R. & Fazekas, F., 1 Feb 2003, In : Stroke. 34, 2, p. 441-445 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Visualizing brain activation during planning: The Tower of London test adapted for functional MR imaging

Lazeron, R. H. C., Rombouts, S. A. R. B., Machielsen, W. C. M., Scheltens, P., Witter, M. P., Uylings, H. B. M. & Barkhof, F., 2 Oct 2000, In : American Journal of Neuroradiology. 21, 8, p. 1407-1414 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Virological and serological predictors of anal high-grade squamous intraepithelial lesions among human immunodeficiency virus-positive men who have sex with men

Marra, E., Siegenbeek van Heukelom, M. L., Leeman, A., Waterboer, T., Meijer, C. J. L. M., Snijders, P. J. F., King, A. J., Cairo, I., van Eeden, A., Brokking, W., van der Weele, P., Quint, W., Prins, J. M., de Vries, H. J. C. & Schim van der Loeff, M. F., 8 Apr 2019, In : Clinical Infectious Diseases. 68, 8, p. 1376-1387 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Viral E6-E7 transcription in the basal layer of organotypic cultures without apparent p21cip1 protein precedes immortalization of human papillomavirus type 16- and 18-transfected human keratinocytes

Steenbergen, R. D. M., Parker, J. N., Isern, S., Snijders, P. J. F., Walboomers, J. M. M., Meijer, C. J. L. M., Broker, T. R. & Chow, L. T., 1 Jan 1998, In : Journal of Virology. 72, 1, p. 749-757 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Vesicle-bound EBV-BART13-3p miRNA in circulation distinguishes nasopharyngeal from other head and neck cancer and asymptomatic EBV-infections

Ramayanti, O., Verkuijlen, S. A. W. M., Novianti, P., Scheepbouwer, C., Misovic, B., Koppers-Lalic, D., van Weering, J., Beckers, L., Adham, M., Martorelli, D., Middeldorp, J. M. & Pegtel, D. M., 15 May 2019, In : International Journal of Cancer. 144, 10, p. 2555-2566 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

V-ATPase as an effective therapeutic target for sarcomas

Perut, F., Avnet, S., Fotia, C., Baglìo, S. R., Salerno, M., Hosogi, S., Kusuzaki, K. & Baldini, N., 1 Jan 2014, In : Experimental Cell Research. 320, 1, p. 21-32 12 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

Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction

Panneman, D. M., Wortmann, S. B., Haaxma, C. A., van Hasselt, P. M., Wolf, N. I., Hendriks, Y., Küsters, B., van Emst-de Vries, S., van de Westerlo, E., Koopman, W. J. H., Wintjes, L., van den Brandt, F., de Vries, M., Lefeber, D. J., Smeitink, J. A. M. & Rodenburg, R. J., 1 Apr 2020, In : Clinical Genetics. 97, 4, p. 556-566 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity

van Egmond, M. E., Contarino, M. F., Lugtenberg, C. H. A., Peall, K. J., Brouwer, O. F., Fung, V. S. C., Roze, E., Stewart, R. E., Willemsen, M. A., Wolf, N. I., de Koning, T. J. & Tijssen, M. A., 1 Mar 2019, In : Movement Disorders. 34, 3, p. 317-320

Research output: Contribution to journalArticleAcademicpeer-review

Vanishing white matter: deregulated integrated stress response as therapy target

Abbink, T. E. M., Wisse, L. E., Jaku, E., Thiecke, M. J., Voltolini-González, D., Fritsen, H., Bobeldijk, S., ter Braak, T. J., Polder, E., Postma, N. L., Bugiani, M., Struijs, E. A., Verheijen, M., Straat, N., van der Sluis, S., Thomas, A. A. M., Molenaar, D. & van der Knaap, M. S., 1 Jan 2019, In : Annals of Clinical and Translational Neurology. 6, 8, p. 1407-1422 16 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Vanishing white matter: a leukodystrophy due to astrocytic dysfunction

Bugiani, M., Vuong, C., Breur, M. & van der Knaap, M. S., 2018, In : Brain Pathology. 28, 3, p. 408-421

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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

Uterine function, pregnancy complications, and pregnancy outcomes among female childhood cancer survivors

van de Loo, L. E. X. M., van den Berg, M. H., Overbeek, A., van Dijk, M., Damen, L., Lambalk, C. B., Ronckers, C. C. M., van den Heuvel-Eibrink, M. M., Kremer, L. C. M., van der Pal, H. J., Laven, J. S. E., Tissing, W. J. E., Loonen, J. J., Versluys, B., Bresters, D., Kaspers, G. J. L., van Leeuwen, F. E., van Dulmen-den Broeder, E. & DCOG LATER-VEVO Study Group, 1 Feb 2019, In : Fertility and Sterility. 111, 2, p. 372-380

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Using Unsupervised Learning to Identify Clinical Subtypes of Alzheimer's Disease in Electronic Health Records

Alexander, N., Alexander, D. C., Barkhof, F. & Denaxas, S., 16 Jun 2020, In : Studies in Health Technology and Informatics. 270, p. 499-503 5 p.

Research output: Contribution to journalArticleAcademicpeer-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

Use of the Dyskinesia Impairment Scale in non-ambulatory dyskinetic cerebral palsy

Haberfehlner, H., Bonouvrié, L. A., Boeschoten, K., Fleuren, S., Monbaliu, E., Becher, J. G., Vermeulen, R. J. & Buizer, A. I., 1 Apr 2020, In : Developmental Medicine and Child Neurology. 62, 4, 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Use of monoclonal antibody E48 in diagnosing transitional cell carcinoma of urinary bladder

Torenbeek, R., Blomjous, C. E. M., Quak, J. J., Ybema, S. & Meijer, C. J. L. M., 1 Jan 1992, In : Journal of Clinical Pathology. 45, 4, p. 303-307 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Urgent challenges in quantification and interpretation of brain grey matter atrophy in individual MS patients using MRI

Amiri, H., de Sitter, A., Bendfeldt, K., Battaglini, M., Wheeler-Kingshott, C. A. M. G., Calabrese, M., Geurts, J. J. G., Rocca, M. A., Sastre-Garriga, J., Enzinger, C., de Stefano, N., Filippi, M., Rovira, A., Barkhof, F. & Vrenken, H., 2018, In : NeuroImage: Clinical. 19, p. 466-475

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

Upregulation of ICAM-1 on cardiomyocytes in jeopardized human myocardium during infarction

Niessen, H. W., Lagrand, W. K., Visser, C. A., Meijer, C. J. & Hack, C. E., Mar 1999, In : Cardiovascular Research. 41, 3, p. 603-10 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Up-regulation of gene expression by hypoxia is mediated predominantly by hypoxia-inducible factor 1 (HIF-1)

Greijer, A. E., van der Groep, P., Kemming, D., Shvarts, A., Semenza, G. L., Meijer, G. A., van de Wiel, M. A., Belien, J. A. M., van Diest, P. J. & van der Wall, E., Jul 2005, In : Journal of Pathology. 206, 3, p. 291-304 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

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

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

Unraveling treatment response in multiple sclerosis: A clinical and MRI challenge

Gasperini, C., Prosperini, L., Tintoré, M., Sormani, M. P., Filippi, M., Rio, J., Palace, J., Rocca, M. A., Ciccarelli, O., Barkhof, F., Sastre-Garriga, J., Vrenken, H., Frederiksen, J. L., Yousry, T. A., Enzinger, C., Rovira, A., Kappos, L., Pozzilli, C., Montalban, X. & de Stefano, N., 22 Jan 2019, In : Neurology. 92, 4, p. 180-192 13 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

Unique transcription pattern of Epstein-Barr virus (EBV) in EBV-carrying gastric adenocarcinomas: expression of the transforming BARF1 gene

zur Hausen, A., Brink, A. A., Craanen, M. E., Middeldorp, J. M., Meijer, C. J. & van den Brule, A. J., 15 May 2000, In : Cancer Research. 60, 10, p. 2745-8 4 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

Unconventional secretion factor GRASP55 is increased by pharmacological unfolded protein response inducers in neurons

van Ziel, A. M., Largo-Barrientos, P., Wolzak, K., Verhage, M. & Scheper, W., 2019, In : Scientific Reports. 9, 1, 1567.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Unbiased whole-brain analysis of gray matter loss in Alzheimer's disease

Rombouts, S. A. R. B., Barkhof, F., Witter, M. P. & Scheltens, P., 19 May 2000, In : Neuroscience Letters. 285, 3, p. 231-233 3 p.

Research output: Contribution to journalArticleAcademicpeer-review

UFM1 founder mutation in the Roma population causes severe variant of Hypomyelination with Atrophy of the Basal ganglia and Cerebellum (H-ABC)

Hamilton, E. M., Bertini, E., Kalaydjieva, L., Morar, B., Dojcakova, D., Diodato, D., Wolf, N., Waisfisz, Q., Abbink, E. & van der Knaap, M. S., Jun 2018, In : European Journal of Neurology. 25, p. 31-32

Research output: Contribution to journalMeeting AbstractAcademic

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

Tyrosine phosphorylation of Munc18-1 inhibits synaptic transmission by preventing SNARE assembly

Meijer, M., Dörr, B., Lammertse, H. C., Blithikioti, C., van Weering, J. R., Toonen, R. F., Söllner, T. H. & Verhage, M., 17 Jan 2018, In : EMBO Journal. 37, 2, p. 300-320 21 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access