Amsterdam Neuroscience - Cellular and Molecular Mechanisms

Research Output

2016

Modeling psychiatric disorders: From genomic findings to cellular phenotypes

Falk, A., Heine, V. M., Harwood, A. J., Sullivan, P. F., Peitz, M., Brüstle, O., Shen, S., Sun, Y. M., Glover, J. C., Posthuma, D. & Djurovic, S., 1 Sep 2016, In : Molecular Psychiatry. 21, 9, p. 1167-1179 13 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Modeling psychiatric disorders: from genomic findings to cellular phenotypes

Falk, A., Heine, V. M., Harwood, A. J., Sullivan, P. F., Peitz, M., Brüstle, O., Shen, S., Sun, Y-M., Glover, J. C., Posthuma, D. & Djurovic, S., Sep 2016, In : Molecular Psychiatry. 21, 9, p. 1321

Research output: Contribution to journalArticleAcademicpeer-review

Multivariate Gene-Based Association Test on Family Data in MGAS

Vroom, C-R., Posthuma, D., Li, M-X., Dolan, C. V. & van der Sluis, S., Sep 2016, In : Behavior Genetics. 46, 5, p. 718-725

Research output: Contribution to journalArticleAcademicpeer-review

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Jenkinson, E. M., Rodero, M. P., Kasher, P. R., Uggenti, C., Oojageer, A., Goosey, L. C., Rose, Y., Kershaw, C. J., Urquhart, J. E., Williams, S. G., Bhaskar, S. S., O'Sullivan, J., Baerlocher, G. M., Haubitz, M., Aubert, G., Baranano, K. W., Barnicoat, A. J., Battini, R., Berger, A., Blair, E. M. & 46 others, Brunstrom-Hernandez, J. E., Buckard, J. A., Cassiman, D. M., Caumes, R., Cordelli, D. M., De Waele, L. M., Fay, A. J., Ferreira, P., Fletcher, N. A., Fryer, A. E., Goel, H., Hemingway, C. A., Henneke, M., Hughes, I., Jefferson, R. J., Kumar, R., Lagae, L., Landrieu, P. G., Lourenco, C. M., Malpas, T. J., Mehta, S. G., Metz, I., Naidu, S., Ounap, K., Panzer, A., Prabhakar, P., Quaghebeur, G., Schiffmann, R., Sherr, E. H., Sinnathuray, K. R., Soh, C., Stewart, H. S., Stone, J., Van Esch, H., Van Mol, C. E. G., Vanderver, A., Wakeling, E. L., Whitney, A., Pavitt, G. D., Griffiths-Jones, S., Rice, G. I., Revy, P., van der Knaap, M. S., Livingston, J. H., O'Keefe, R. T. & Crow, Y. J., Oct 2016, In : Nature Genetics. 48, 10, p. 1185-1192

Research output: Contribution to journalArticleAcademicpeer-review

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

Knierim, E., Hirata, H., Wolf, N. I., Morales-Gonzalez, S., Schottmann, G., Tanaka, Y., Rudnik-Schoeneborn, S., Orgeur, M., Zerres, K., Vogt, S., van Riesen, A., Gill, E., Seifert, F., Zwirner, A., Kirschner, J., Goebel, H. H., Huebner, C., Stricker, S., Meierhofer, D., Stenzel, W. & 1 others, Schuelke, M., 3 Mar 2016, In : American journal of human genetics. 98, 3, p. 473-489

Research output: Contribution to journalArticleAcademicpeer-review

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

Boyle, L., Wamelink, M. M. C., Salomons, G. S., Roos, B., Pop, A., Dauber, A., Hwa, V., Andrew, M., Douglas, J., Feingold, M., Kramer, N., Saitta, S., Retterer, K., Cho, M. T., Begtrup, A., Monaghan, K. G., Wynn, J. & Chung, W. K., 2 Jun 2016, In : American journal of human genetics. 98, 6, p. 1235-1242

Research output: Contribution to journalArticleAcademicpeer-review

Neurobeachin Regulates Glutamate- and GABA-Receptor Targeting to Synapses via Distinct Pathways.

Farzana, F., Zalm, R., Chen, N., Li, K. W., Grant, S. G., Smit, A. B., Toonen, R. F. G. & Verhage, M., 2016, In : Molecular Neurobiology. 53, 4, p. 2112-2123

Research output: Contribution to journalArticleAcademicpeer-review

Normal molecular specification and neurodegenerative disease-like death of spinal neurons lacking the snareassociated synaptic protein Munc18-1

Law, C., Profes, M. S., Levesque, M., Kaltschmidt, J. A., Verhage, M. & Kania, A., 13 Jan 2016, In : Journal of Neuroscience. 36, 2, p. 561-576 16 p.

Research output: Contribution to journalArticleAcademicpeer-review

No Tryptophan, Tyrosine and Phenylalanine Abnormalities in Children with Attention-Deficit/Hyperactivity Disorder

Bergwerff, C. E., Luman, M., Blom, H. J. & Oosterlaan, J., 2016, In : PLoS ONE. 11, 3, e0151100.

Research output: Contribution to journalArticleAcademicpeer-review

Novel brain white matter disorders and their genetic causes

Kevelam, S. H. G., 2016

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

Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics

Schackmann, M. J. A., Ofman, R., van Geel, B. M., Dijkstra, I. M. E., van Engelen, K., Wanders, R. J. A., Engelen, M. & Kemp, S., 1 Jun 2016, In : Molecular Genetics and Metabolism. 118, 2, p. 123-127 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Phenotyping GABA transaminase deficiency: a case description and literature review

Louro, P., Ramos, L., Robalo, C., Cancelinha, C., Dinis, A., Veiga, R., Pina, R., Rebelo, O., Pop, A., Diogo, L., Salomons, G. S. & Garcia, P., Sep 2016, In : Journal of Inherited Metabolic Disease. 39, 5, p. 743-747

Research output: Contribution to journalArticleAcademicpeer-review

Phosphorylation of synaptotagmin-1 controls a postpriming step in PKC-dependent presynaptic plasticity

De Jong, A. P. H., Meijer, M., Saarloos, I., Cornelisse, L. N., Toonen, R. F. G., Sorensen, J. B. & Verhage, M., 3 May 2016, In : Proceedings of the National Academy of Sciences of the United States of America. 113, 18, p. 5095-5100 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

PLASMA VESICLE-ASSOCIATED miRNAs AS THERAPY RESPONSE BIOMARKERS IN HODGKIN LYMPHOMA

Pegtel, D. M., Drees, E., van Eijndhoven, M. A. J., Groenewegen, N. J., van Niele, S., Prins, R., Baglio, S. R., Zijlstra, J. M., van der Voorn, H., Libregts, S. F. W. M., Wauben, M. H., de Menezes, R. X., van Weering, J. R. T., Nieuwland, R., Diepstra, A., van den Berg, A. & de Jong, D., Oct 2016, In : Haematologica. 101, p. 31-31

Research output: Contribution to journalArticleAcademicpeer-review

Plasma vesicle miRNAs for therapy response monitoring in Hodgkin lymphoma patients

van Eijndhoven, M. A. J., Zijlstra, J. M., Groenewegen, N. J., Drees, E. E. E., van Niele, S., Baglio, S. R., Koppers-Lalic, D., van der Voorn, H., Libregts, S. F. W. M., Wauben, M. H. M., de Menezes, R. X., van Weering, J. R. T., Nieuwland, R., Visser, L., van den Berg, A., de Jong, D. & Pegtel, D. M., 17 Nov 2016, In : JCI Insight. 1, 19, p. e89631

Research output: Contribution to journalArticleAcademicpeer-review

Presynaptic inhibition upon CB1 or mGlu2/3 receptor activation requires ERK/MAPK phosphorylation of Munc18-1

Schmitz, S. K., King, C., Kortleven, C., Huson, V., Kroon, T., Kevenaar, J. T., Schut, D., Saarloos, I., Hoetjes, J. P., de Wit, H., Stiedl, O., Spijker, S., Li, K. W., Mansvelder, H. D., Smit, A. B., Cornelisse, L. N., Verhage, M. & Toonen, R. F., 1 Jun 2016, In : EMBO Journal. 35, 11, p. 1236-50 15 p.

Research output: Contribution to journalArticleAcademicpeer-review

Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation

Jaeger, B., Abeling, N. G., Salomons, G. S., Struys, E. A., Simas-Mendes, M., Geukers, V. G. & Poll-The, B. T., 1 Mar 2016, In : Molecular Genetics and Metabolism Reports. 6, p. 60-63 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

Quantitative MRI in hypomyelinating disorders: Correlation with motor handicap

Steenweg, M. E., Wolf, N. I., van Wieringen, W. N., Barkhof, F., van der Knaap, M. S. & Pouwels, P. J. W., 23 Aug 2016, In : Neurology. 87, 8, p. 752-758

Research output: Contribution to journalArticleAcademicpeer-review

Randomized, Double-Blind, Placebo-Controlled Studies to Evaluate Treatment with Aducanumab (BIIB037) in Patients with Early Alzheimer's Disease: Phase 3 Study Design

Viglietta, V., O'Gorman, J., Williams, L., Tian, Y., Sandrock, A., Doody, R., Salloway, S., Barkhof, F., Vellas, B., Sano, M., Aisen, P. & Sevigny, J., 5 Apr 2016, In : Neurology. 86

Research output: Contribution to journalArticleAcademicpeer-review

Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy

Mueller, A., Helbig, I., Jansen, C., Bast, T., Guerrini, R., Jaehn, J., Muhle, H., Auvin, S., Korenke, G. C., Philip, S., Keimer, R., Striano, P., Wolf, N. I., Puest, B., Thiels, C., Fogarasi, A., Waltz, S., Kurlemann, G., Kovacevic-Preradovic, T., Ceulemans, B. & 6 others, Schmitt, B., Philippi, H., Tarquinio, D., Buerki, S., von Stuelpnagel, C. & Kluger, G., Jan 2016, In : European Journal of Paediatric Neurology. 20, 1, p. 147-151

Research output: Contribution to journalArticleAcademicpeer-review

Ridge estimation of inverse covariance matrices from high-dimensional data

Van Wieringen, W. N. & Peeters, C. F. W., 1 Nov 2016, In : Computational Statistics and Data Analysis. 103, p. 284-303 20 p.

Research output: Contribution to journalArticleAcademicpeer-review

Severe Neonatal Anaemia, MRI Findings and Neurodevelopmental Outcome

Zonnenberg, I. A., Vermeulen, R. J., Rohaan, M. W., van Weissenbruch, M. M., Groenendaal, F. & de Vries, L. S., 2016, In : Neonatology. 109, 4, p. 282-288 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Slow pupillary light responses in infants at high risk of cerebral palsy were associated with periventricular leukomalacia and neurological outcome

Hamer, E. G., Vermeulen, R. J., Dijkstra, L. J., Hielkema, T., Kos, C., Bos, A. F. & Hadders-Algra, M., Dec 2016, In : Acta Paediatrica. 105, 12, p. 1493-1501

Research output: Contribution to journalArticleAcademicpeer-review

Specific MRI abnormalities reveal severe perrault syndrome due to CLPP defects

Theunissen, T. E. J., Szklarczyk, R., Gerards, M., Hellebrekers, D. M. E. I., Mulder-Den Hartog, E. N. M., Vanoevelen, J., Kamps, R., de Koning, B., Lane Rutledge, S., Schmitt-Mechelke, T., van Berkel, C. G. M., van der Knaap, M. S., de Coo, I. F. M. & Smeets, H. J. M., 16 Nov 2016, In : Frontiers in Neurology. 7, NOV, 203.

Research output: Contribution to journalArticleAcademicpeer-review

Statistics in high dimensions

van der Vaart, A. W. & van Wieringen, W. N., 2016, Mathematics and Society. Koenig, W. (ed.). Zürich, Switzerland: European Mathematical Society Publishing House, p. 51 70 p.

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Stem cell therapy for white matter disorders: don't forget the microenvironment!

Dooves, S., van der Knaap, M. S. & Heine, V. M., Jul 2016, In : Journal of Inherited Metabolic Disease. 39, 4, p. 513-518

Research output: Contribution to journalArticleAcademicpeer-review

Stofwisselingsziekten binnen de psychiatrie

Translated title of the contribution: Metabolic diseases in psychiatryDe Sain-Van der Velden, M. G. M., Jans, J. J., Figee, M., Engelen, M., Prinsen, H. C. M. T., Verhoeven-Duif, N. M., van Kuilenburg, A. B. P., Visser, G. & Vinkers, C. H., 2016, In : Tijdschrift voor Psychiatrie. 58, 5, p. 402-406 5 p.

Research output: Contribution to journalArticleProfessional

Targeting neuronal MAPK14/p38 activity to modulate autophagy in the Alzheimer disease brain

Alam, J. & Scheper, W., 2016, In : Autophagy. 12, 12, p. 2516-2520

Research output: Contribution to journalArticleAcademicpeer-review

Testing for association between RNA-Seq and high-dimensional data

Rauschenberger, A., Jonker, M. A., van de Wiel, M. A. & Menezes, R. X., 8 Mar 2016, In : BMC Bioinformatics. 17, 118.

Research output: Contribution to journalArticleAcademicpeer-review

The effect of intrathecal baclofen treatment on activities of daily life in children and young adults with cerebral palsy and progressive neurological disorders

Bonouvrie, L., Becher, J., Soudant, D., Buizer, A., van Ouwerkerk, W., Vles, G. & Vermeulen, R. J., Jul 2016, In : European Journal of Paediatric Neurology. 20, 4, p. 538-544

Research output: Contribution to journalArticleAcademicpeer-review

The experienced temperature sensitivity and regulation survey

Van Someren, E. J. W., Dekker, K., Te Lindert, B. H. W., Benjamins, J. S., Moens, S., Migliorati, F., Aarts, E. & van der Sluis, S., 27 May 2016, In : Temperature (Austin, Tex.). 3, 1, p. 59-76 18 p.

Research output: Contribution to journalArticleAcademicpeer-review

THE MEASUREMENT OF HIPPOCAMPAL ATROPHY RATES WITH MRI FOR A 3-YEAR STUDY APPEARS TO BE AT LEAST 3 TIMES MORE SENSITIVE THAN A 1-YEAR STUDY BASED ON BACK-TO-BACK REPRODUCIBILITY

Cover, K. S., van Schijndel, R. A., Versteeg, A., Leung, K. K., Redolfi, A., Manset, D., Damangir, S., Bosco, P., Vrenken, H., van Dijk, B. W., Frisoni, G. B. & Barkhof, F., 17 Oct 2016, In : Alzheimers & Dementia. 12, 7, p. P99-P100

Research output: Contribution to journalMeeting AbstractAcademic

THE ROLE OF PROTEIN KINASES IN ALZHEIMER’S DISEASE

Rosenberger, A. & Hoozemans, JJM., 18 Nov 2016

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

The value of plasma vitamin B-6 profiles in early onset epileptic encephalopathies

Mathis, D., Abela, L., Albersen, M., Burer, C., Crowther, L., Beese, K., Hartmann, H., Bok, L. A., Struys, E., Papuc, S. M., Rauch, A., Hersberger, M., Verhoeven-Duif, N. M. & Plecko, B., Sep 2016, In : Journal of Inherited Metabolic Disease. 39, 5, p. 733-741

Research output: Contribution to journalArticleAcademicpeer-review

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

2015

Competition and Homeostasis of Excitatory and Inhibitory Connectivity in the Adult Mouse Visual Cortex

Saiepour, M. H., Chakravarthy, S., Min, R. & Levelt, C. N., Oct 2015, In : Cerebral Cortex. 25, 10, p. 3713-22 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Control of Inhibition by the Direct Action of Cannabinoids on GABAA Receptors

Golovko, T., Min, R., Lozovaya, N., Falconer, C., Yatsenko, N., Tsintsadze, T., Tsintsadze, V., Ledent, C., Harvey, R. J., Belelli, D., Lambert, J. J., Rozov, A. & Burnashev, N., Sep 2015, In : Cerebral Cortex. 25, 9, p. 2440-55 16 p.

Research output: Contribution to journalArticleAcademicpeer-review

Multilevel analysis quantifies variation in the experimental effect while optimizing power and preventing false positives

Aarts, E., Dolan, C. V., Verhage, M. & van der Sluis, S., 2015, In : BMC Neuroscience. 16, 94.

Research output: Contribution to journalArticleAcademicpeer-review

Neuropsychiatric symptoms in alzheimer’s disease and vascular dementia.

Echavarri, C., Burgmans, S., Uylings, HBM., Cuesta, M. J., Peralta, V., Kamphorst, W., Rozemuller, JM. & Verhey, F. R. J., 2015, Handbook of Depression in Alzheimer's Disease. Smith, G. S. (ed.). Amsterdam: IOS Press, p. 25-31 7 p. DOI 10.3233/978-1-61499-542-5-25

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

2014

Asfotase-α improves bone growth, mineralization and strength in mouse models of neurofibromatosis type-1

De La Croix Ndong, J., Makowski, A. J., Uppuganti, S., Vignaux, G., Ono, K., Perrien, D. S., Joubert, S., Baglio, S. R., Granchi, D., Stevenson, D. A., Rios, J. J., Nyman, J. S. & Elefteriou, F., 2014, In : Nature Medicine. 20, 8, p. 904-910 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Exosomes: Novel effectors of human platelet lysate activity

Torreggiani, E., Perut, F., Roncuzzi, L., Zini, N., Baglìo, S. R. & Baldini, N., 2014, In : European Cells and Materials. 28, p. 137-151 15 p.

Research output: Contribution to journalArticleAcademicpeer-review

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

van Berge, L., Hamilton, EMC., Linnankivi, T., Uziel, G., Steenweg, M. E., Isohanni, P., Wolf, NI., Krägeloh-Mann, I., Brautaset, N. J., Andrews, P. I., de Jong, BA., al Ghamdi, M., van Wieringen, W. N., Tannous, B. A., Hulleman, E., Würdinger, T., van Berkel, C. G. M., Polder, E., Abbink, TE., Struys, E. A. & 2 others, Scheper, GC. & van der Knaap, MS., 2014, In : Brain. 137

Research output: Contribution to journalArticleAcademicpeer-review

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

2013

MicroRNA expression profiling of human bone marrow mesenchymal stem cells during osteogenic differentiation reveals Osterix regulation by miR-31

Baglìo, S. R., Devescovi, V., Granchi, D. & Baldini, N., 15 Sep 2013, In : Gene. 527, 1, p. 321-31 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Non-Hebbian long-term potentiation of inhibitory synapses in the thalamus

Sieber, A. R., Min, R. & Nevian, T., 2 Oct 2013, In : Journal of Neuroscience. 33, 40, p. 15675-85 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

2012

A regenerative approach for bone repair in congenital pseudarthrosis of the tibia associated or not associated with type 1 neurofibromatosis: correlation between laboratory findings and clinical outcome

Granchi, D., Devescovi, V., Baglio, S. R., Magnani, M., Donzelli, O. & Baldini, N., Mar 2012, In : Cytotherapy. 14, 3, p. 306-14 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Astrocyte signaling controls spike timing-dependent depression at neocortical synapses

Min, R. & Nevian, T., 25 Mar 2012, In : Nature Neuroscience. 15, 5, p. 746-53 8 p.

Research output: Contribution to journalArticleAcademicpeer-review