Amsterdam Neuroscience - Cellular & Molecular Mechanisms (AMC)

Research output

Research output per year 1988 2018 2019 2020 2021 2022 2023 2024

• 1155 Article
• 154 Review article
• 54 Comment/Letter to the editor
• 39 Chapter
• 63 More
  • 27 Phd-Thesis - Research and graduation internal
  • 15 Editorial
  • 7 Letter
  • 5 Erratum/Corrigendum
  • 3 Digital or Visual Products
  • 2 Book
  • 2 Other contribution
  • 1 Conference contribution
  • 1 Short survey

Research output per year

Research output per year

Search results

• 2024

  Diagnosis and management in Rubinstein-Taybi syndrome: First international consensus statement

  Lacombe, D., Bloch-Zupan, A., Bredrup, C., Cooper, E. B., Houge, S. D., García-Miñaúr, S., Kayserili, H. L., Larizza, L., Lopez Gonzalez, V., Menke, L. A., Milani, D., Saettini, F., Stevens, C. A., Tooke, L., van der Zee, J. A., Genderen, M. M. V., van-Gils, J., Waite, J., Adrien, J-L., Bartsch, O., & 32 othersBitoun, P., Bouts, A. H. M., Cueto-González, A. M., Dominguez-Garrido, E., Duijkers, F. A., Fergelot, P., Halstead, E., Huisman, S. A., Meossi, C., Mullins, J., Nikkel, S. M., Oliver, C., Prada, E., Rei, A., Riddle, I., Rodriguez-Fonseca, C., Pena, R. R., Russell, J., Saba, A., Santos-Simarro, F., Simpson, B. N., Smith, D. F., Stevens, M. F., Szakszon, K., Taupiac, E., Totaro, N., Palafoll, I. V., van der Kaay, D. C. M., van Wijk, M. P., Vyshka, K., Wiley, S. & Hennekam, R. C., 12 Mar 2024, (E-pub ahead of print) In: Journal of medical genetics. jmg-2023-109438.

  Research output: Contribution to journal › Review article › Academic › peer-review

• Family-centred care interventions for children with chronic conditions: A scoping review

  Chow, A. J., Saad, A., Al-Baldawi, Z., Iverson, R., Skidmore, B., Jordan, I., Pallone, N., Smith, M., Chakraborty, P., Brehaut, J., Cohen, E., Dyack, S., Gillis, J., Goobie, S., Greenberg, C. R., Hayeems, R., Hutton, B., Inbar-Feigenberg, M., Jain-Ghai, S., Khangura, S., & 18 othersMacKenzie, J. J., Mitchell, J. J., Moazin, Z., Nicholls, S. G., Pender, A., Prasad, C., Schulze, A., Siriwardena, K., Sparkes, R. N., Speechley, K. N., Stockler, S., Taljaard, M., Teitelbaum, M., Trakadis, Y., van Karnebeek, C., Walia, J. S., Wilson, K. & Potter, B. K., 1 Feb 2024, In: Health expectations. 27, 1, e13897.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access

• mTOR and neuroinflammation in epilepsy: implications for disease progression and treatment

  Ravizza, T., Scheper, M., di Sapia, R., Gorter, J., Aronica, E. & Vezzani, A., 2024, (E-pub ahead of print) In: Nature reviews. Neuroscience.

  Research output: Contribution to journal › Review article › Academic › peer-review

• Normative modelling of brain morphometry across the lifespan with CentileBrain: algorithm benchmarking and model optimisation

  Ge, R., Yu, Y., Qi, Y. X., Boomsma, D. I., Crone, E. A., Hulshoff Pol, H. E., Jahanshad, N., Thompson, P. M., Frangou, S., ENIGMA Lifespan Working Group & van 't Ent, D., 1 Mar 2024, In: The Lancet Digital Health. 6, 3, p. e211-e221

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology

  Yska, H. A. F., Engelen, M. & Bugiani, M., 1 Dec 2024, In: Orphanet Journal of Rare Diseases. 19, 1, 138.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
• 2023

  Accelerated intermittent theta burst stimulation in major depressive disorder: A systematic review

  Neuteboom, D., Zantvoord, J. B., Goya-Maldonado, R., Wilkening, J., Dols, A., van Exel, E., Lok, A., de Haan, L. & Scheepstra, K. W. F., 1 Sept 2023, In: Psychiatry Research. 327, p. 115429 1 p., 115429.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects

  de Boer, L., Cambi, A., Verhagen, L. M., de Haas, P., van Karnebeek, C. D. M., Blau, N. & Ferreira, C. R., 1 May 2023, In: Molecular Genetics and Metabolism. 139, 1, 107582.

  Research output: Contribution to journal › Review article › Academic › peer-review
  4 Citations (Scopus)

• Continuing Challenges in the Definitive Diagnosis of Cushing’s Disease: A Structured Review Focusing on Molecular Imaging and a Proposal for Diagnostic Work-Up

  Slagboom, T. N. A., Stenvers, D. J., Roosendaal, S. D., de Win, M. M. L., Bot, J. C. J., Aronica, E., Post, R., Hoogmoed, J., Drent, M. L., Pereira, A. M. & van de Giessen, E., 1 Apr 2023, In: Clinical Chemistry. 12, 8, 2919.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• Delineating family needs in the transition from hospital to home for children with medical complexity: part 1, a meta-aggregation of qualitative studies

  van de Riet, L., Alsem, M. W., van der Leest, E. C., van Etten-Jamaludin, F. S., Maaskant, J. M., van Woensel, J. B. M. & van Karnebeek, C. D., 1 Dec 2023, In: Orphanet Journal of Rare Diseases. 18, 1, 386.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• Electroencephalography for predicting antidepressant treatment success: A systematic review and meta-analysis

  Cohen, S. E., Zantvoord, J. B., Wezenberg, B. N., Daams, J. G., Bockting, C. L. H., Denys, D. & van Wingen, G. A., 15 Jan 2023, In: Journal of affective disorders. 321, p. 201-207 7 p.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  3 Citations (Scopus)

• Epilepsy and brain tumors: Two sides of the same coin

  Aronica, E., Ciusani, E., Coppola, A., Costa, C., Russo, E., Salmaggi, A., Perversi, F. & Maschio, M., 15 Mar 2023, In: Journal of the neurological sciences. 446, 120584.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  5 Citations (Scopus)

• Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy

  Aronica, E., Specchio, N., Luinenburg, M. J. & Curatolo, P., 1 Jul 2023, In: Brain. 146, 7, p. 2694-2710 17 p.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  14 Citations (Scopus)

• Genetic mutations and phenotype characteristics in peripheral vascular malformations: A systematic review

  Stor, M. L. E., Horbach, S. E. R., Lokhorst, M. M., Tan, E., Maas, S. M., van Noesel, C. J. M. & van der Horst, C. M. A. M., 2023, (E-pub ahead of print) In: Journal of the European Academy of Dermatology and Venereology.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access

• Hospital-to-home transitions for children with medical complexity: part 1, a systematic review of reported outcomes

  de Lange, A., Alsem, M. W., Haspels, H. N., van Karnebeek, C. D. M., van Woensel, J. B. M., Etten–Jamaludin, F. S. & Maaskant, J. M., Sept 2023, In: European journal of pediatrics. 182, 9, p. 3805-3831 27 p.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  2 Citations (Scopus)

• Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing)

  Ferreira, E. A., Buijs, M. J. N., Wijngaard, R., Daams, J. G., Datema, M. R., Engelen, M., van Karnebeek, C. D. M., Oud, M. M., Vaz, F. M., Wamelink, M. M. C., van der Crabben, S. N. & Langeveld, M., 2023, In: Frontiers in Neurology. 14, p. 1206106 1206106.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access

• Inhibitory control as a potential treatment target for obesity

  de Klerk, M. T., Smeets, P. A. M. & la Fleur, S. E., 2023, In: Nutritional neuroscience. 26, 5, p. 429-444 16 p.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  10 Citations (Scopus)

• Is tuberous sclerosis complex-associated autism a preventable and treatable disorder?

  Curatolo, P., Scheper, M., Emberti Gialloreti, L., Specchio, N. & Aronica, E., 2023, (E-pub ahead of print) In: World Journal of Pediatrics.

  Research output: Contribution to journal › Review article › Academic › peer-review
  1 Citation (Scopus)

• Neonatal screening for primary and central congenital hypothyroidism: is it time to go Dutch?

  Boelen, A., Zwaveling-Soonawala, N., Heijboer, A. C. & van Trotsenburg, A. S. P., 2023, In: European thyroid journal. 12, 4, e230041.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  3 Citations (Scopus)

• Neuropathology of New-Onset Refractory Status Epilepticus (NORSE)

  Hanin, A., Cespedes, J., Huttner, A., Strelnikov, D., Gopaul, M., DiStasio, M., Vezzani, A., Hirsch, L. J. & Aronica, E., Aug 2023, In: Journal of neurology. 270, 8, p. 3688-3702 15 p.

  Research output: Contribution to journal › Review article › Academic › peer-review
  3 Citations (Scopus)

• Symptomatic non-stenotic carotid disease: Current challenges and opportunities for diagnosis and treatment

  Ospel, J. M., Kappelhof, M., Ganesh, A., Kallmes, D. F., Brinjikji, W. & Goyal, M., 2023, (E-pub ahead of print) In: Journal of NeuroInterventional Surgery. jnis-2022-020005.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• The Effects of Heat Stress on the Transcriptome of Human Cancer Cells: A Meta-Analysis

  Scutigliani, E. M., Lobo-Cerna, F., Mingo Barba, S., Scheidegger, S. & Krawczyk, P. M., 1 Jan 2023, In: Cancers. 15, 1, 113.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• Ubiquitin-modifying enzymes in Huntington’s disease

  Sap, K. A., Geijtenbeek, K. W., Schipper-Krom, S., Guler, A. T. & Reits, E. A., 8 Feb 2023, In: Frontiers in Molecular Biosciences. 10, 1107323.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  4 Citations (Scopus)

• Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy

  Specchio, N., Nabbout, R., Aronica, E., Auvin, S., Benvenuto, A., de Palma, L., Feucht, M., Jansen, F., Kotulska, K., Sarnat, H., Lagae, L., Jozwiak, S. & Curatolo, P., 1 Nov 2023, In: European Journal of Paediatric Neurology. 47, p. 25-34 10 p.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  4 Citations (Scopus)
• 2022

  2022 Overview of Metabolic Epilepsies

  Tumiene, B., Ferreira, C. R. & van Karnebeek, C. D. M., 1 Mar 2022, In: Genes. 13, 3, 508.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  9 Citations (Scopus)

• Advances in the genetics and neuropathology of tuberous sclerosis complex: edging closer to targeted therapy

  Curatolo, P., Specchio, N. & Aronica, E., 1 Sept 2022, In: The Lancet Neurology. 21, 9, p. 843-856 14 p.

  Research output: Contribution to journal › Review article › Academic › peer-review
  30 Citations (Scopus)

• Altered Extracellular Matrix as an Alternative Risk Factor for Epileptogenicity in Brain Tumors

  de Jong, J. M., Broekaart, D. W. M., Bongaarts, A., Mühlebner, A., Mills, J. D., van Vliet, E. A. & Aronica, E., 1 Oct 2022, In: Biomedicines. 10, 10, 24 p., 2475.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  3 Citations (Scopus)

• An overview of the first 5 years of the ENIGMA obsessive-compulsive disorder working group: The power of worldwide collaboration

  ENIGMA OCD Working Group & on behalf of the ENIGMA-OCD working group, Jan 2022, In: Human brain mapping. 43, 1, p. 23-36 14 p.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  46 Citations (Scopus)

• Astrocytes in the initiation and progression of epilepsy

  Vezzani, A., Ravizza, T., Bedner, P., Aronica, E., Steinhäuser, C. & Boison, D., Dec 2022, In: Nature Reviews. Neurology. 18, 12, p. 707-722 16 p.

  Research output: Contribution to journal › Review article › Academic › peer-review
  42 Citations (Scopus)

• Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes

  Garanto, A., Ferreira, C. R., Boon, C. J. F., van Karnebeek, C. D. M. & Blau, N., 1 Apr 2022, In: Molecular Genetics and Metabolism. 135, 4, p. 311-319 9 p.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  8 Citations (Scopus)

• Common pathways in dementia and diabetic retinopathy: understanding the mechanisms of diabetes-related cognitive decline

  RECOGNISED consortium (GA 847749), 1 Jan 2022, In: Trends in endocrinology and metabolism: TEM. 33, 1, p. 50-71 22 p.

  Research output: Contribution to journal › Review article › Academic › peer-review
  32 Citations (Scopus)

• Efficacy and safety of deep brain stimulation for treatment-refractory anorexia nervosa: a systematic review and meta-analysis

  Karaszewska, D., Cleintuar, P., Oudijn, M., Lok, A., van Elburg, A., Denys, D. & Mocking, R., 1 Dec 2022, In: Translational Psychiatry. 12, 1, 333.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  5 Citations (Scopus)

• Epigenetic genes and epilepsy - emerging mechanisms and clinical applications

  Van Loo, K. M. J., Carvill, G. L., Becker, A. J., Conboy, K., Goldman, A. M., Kobow, K., Lopes-Cendes, I., Reid, C. A., van Vliet, E. A. & Henshall, D. C., Sept 2022, In: Nature Reviews. Neurology. 18, 9, p. 530-543 14 p.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  15 Citations (Scopus)

• European Prevalence of Polypoidal Choroidal Vasculopathy: A Systematic Review, Meta-Analysis, and Forecasting Study

  van Dijk, E. H. C., Holtz, J. K., Sirks, M. J., Larsson, J. M. E., Diederen, R. M. H., Schlingemann, R. O., Boon, C. J. F. & Subhi, Y., 1 Aug 2022, In: Clinical Chemistry. 11, 16, 4766.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  9 Citations (Scopus)

• HLA molecules in transplantation, autoimmunity and infection control: A comic book adventure

  Reits, E. & Neefjes, J., Oct 2022, In: HLA. 100, 4, p. 301-311 11 p.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• How exposure to chronic stress contributes to the development of type 2 diabetes: A complexity science approach

  Merabet, N., Lucassen, P. J., Crielaard, L., Stronks, K., Quax, R., Sloot, P. M. A., la Fleur, S. E. & Nicolaou, M., 1 Apr 2022, In: Frontiers in Neuroendocrinology. 65, 23 p., 100972.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  18 Citations (Scopus)

• How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques

  Wortmann, S. B., Oud, M. M., Alders, M., Coene, K. L. M., van der Crabben, S. N., Feichtinger, R. G., Garanto, A., Hoischen, A., Langeveld, M., Lefeber, D., Mayr, J. A., Ockeloen, C. W., Prokisch, H., Rodenburg, R., Waterham, H. R., Wevers, R. A., van de Warrenburg, B. P. C., Willemsen, M. A. A. P., Wolf, N. I., Vissers, L. E. L. M., & 1 othersvan Karnebeek, C. D. M., Jul 2022, In: Journal of Inherited Metabolic Disease. 45, 4, p. 663-681 19 p.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  18 Citations (Scopus)

• Implementation of Artificial Intelligence in Diagnostic Practice as a Next Step after Going Digital: The UMC Utrecht Perspective

  Flach, R. N., Fransen, N. L., Sonnen, A. F. P., Nguyen, T. Q., Breimer, G. E., Veta, M., Stathonikos, N., van Dooijeweert, C. & van Diest, P. J., 1 May 2022, In: Diagnostics. 12, 5, 1042.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  9 Citations (Scopus)

• Neurovascular unit dysfunction as a mechanism of seizures and epilepsy during aging

  van Vliet, E. A. & Marchi, N., Jun 2022, In: Epilepsia. 63, 6, p. 1297-1313 17 p.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  26 Citations (Scopus)

• Pathophysiological Mechanisms and Treatment of Dermatomyositis and Immune Mediated Necrotizing Myopathies: A Focused Review

  Kamperman, R. G., van der Kooi, A. J., de Visser, M., Aronica, E. & Raaphorst, J., 1 Apr 2022, In: International journal of molecular sciences. 23, 8, 4301.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  18 Citations (Scopus)

• Personalized medicine for rare neurogenetic disorders: can we make it happen?

  van Eeghen, A. M., Bruining, H., Wolf, N. I., Bergen, A. A., Houtkooper, R. H., van Haelst, M. M. & van Karnebeek, C. D., 1 Feb 2022, In: Cold Spring Harbor molecular case studies. 8, 2, a006200.

  Research output: Contribution to journal › Review article › Academic › peer-review
  5 Citations (Scopus)

• Rare diseases: human genome research is coming home

  Ropers, H-H. & van Karnebeek, C. D., 1 Feb 2022, In: Cold Spring Harbor molecular case studies. 8, 2, a006210.

  Research output: Contribution to journal › Review article › Academic › peer-review

• Role of Intravenous Thrombolytics Prior to Endovascular Thrombectomy

  Campbell, B. C. V., Kappelhof, M. & Fischer, U., 1 Jun 2022, In: Stroke. 53, 6, p. 2085-2092 8 p.

  Research output: Contribution to journal › Review article › Academic › peer-review
  16 Citations (Scopus)

• Role of the striatal dopamine, GABA and opioid systems in mediating feeding and fat intake

  Joshi, A., Schott, M., la Fleur, S. E. & Barrot, M., 1 Aug 2022, In: Neuroscience and Biobehavioral Reviews. 139, 104726.

  Research output: Contribution to journal › Review article › Academic › peer-review
  6 Citations (Scopus)

• The Clash of Two Epidemics: the Relationship Between Opioids and Glucose Metabolism

  Koekkoek, L. L., van der Gun, L. L., Serlie, M. J. & la Fleur, S. E., 1 Jul 2022, In: Current Diabetes Reports. 22, 7, p. 301-310 10 p.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  8 Citations (Scopus)

• The retinal pigmentation pathway in human albinism: Not so black and white

  Bakker, R., Wagstaff, P. E., Kruijt, C. C., Emri, E., van Karnebeek, C. D. M., Hoffmann, M. B., Brooks, B. P., Boon, C. J. F., Montoliu, L., van Genderen, M. M. & Bergen, A. A., Nov 2022, In: Progress in Retinal and Eye Research. 91, 101091.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  17 Citations (Scopus)

• The Role of GJD2(Cx36) in Refractive Error Development

  van der Sande, E., Haarman, A. E. G., Quint, W. H., Tadema, K. C. D., Meester-Smoor, M. A., Kamermans, M., de Zeeuw, C. I., Klaver, C. C. W., Winkelman, B. H. J. & Iglesias, A. I., 1 Mar 2022, In: Investigative Ophthalmology and Visual Science. 63, 3, 5.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  3 Citations (Scopus)

• Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy

  Gupta, A. O., Raymond, G., Pierpont, E. I., Kemp, S., McIvor, R. S., Rayannavar, A., Miller, B., Lund, T. C. & Orchard, P. J., 2022, In: Expert Opinion on Biological Therapy. 22, 9, p. 1151-1162 12 p.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  13 Citations (Scopus)

• Trustworthy AI: Closing the gap between development and integration of AI systems in ophthalmic practice

  González-Gonzalo, C., Thee, E. F., Klaver, C. C. W., Lee, A. Y., Schlingemann, R. O., Tufail, A., Verbraak, F. & Sánchez, C. I., Sept 2022, In: Progress in Retinal and Eye Research. 90, 37 p., 101034.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  30 Citations (Scopus)
• 2021

  Angiogenesis in gynecological cancers and the options for anti-angiogenesis therapy

  Yetkin-Arik, B., Kastelein, A. W., Klaassen, I., Jansen, C. H. J. R., Latul, Y. P., Vittori, M., Biri, A., Kahraman, K., Griffioen, A. W., Amant, F., Lok, C. A. R., Schlingemann, R. O. & van Noorden, C. J. F., 1 Jan 2021, In: BIOCHIMICA ET BIOPHYSICA ACTA-REVIEWS ON CANCER. 1875, 1, 188446.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  42 Citations (Scopus)

• A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR)

  Balfoort, B. M., Buijs, M. J. N., ten Asbroek, A. L. M. A., Bergen, A. A. B., Boon, C. J. F., Ferreira, E. A., Houtkooper, R. H., Wagenmakers, M. A. E. M., Wanders, R. J. A., Waterham, H. R., Timmer, C., van Karnebeek, C. D. & Brands, M. M., 1 Sept 2021, In: Molecular Genetics and Metabolism. 134, 1-2, p. 96-116 21 p.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  9 Citations (Scopus)