Amsterdam Neuroscience - Cellular & Molecular Mechanisms (VUmc)

Research output

Research output per year 1986 2017 2018 2019 2021 2024

• 1090 Article
• 91 Review article
• 55 Meeting Abstract
• 36 Comment/Letter to the editor
• 102 More
  • 33 Chapter
  • 18 Letter
  • 17 Editorial
  • 12 Phd-Thesis - Research and graduation internal
  • 11 Erratum/Corrigendum
  • 3 Paper
  • 3 Short survey
  • 2 Conference contribution
  • 1 Book
  • 1 Abstract
  • 1 Software

Research output per year

Research output per year

Search results

• 2024

  5,10-methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings

  Liepina, L., Smith, D. E. C., Huidekoper, H., Zeidler, S., Wamelink, M., de Wit, M-C., Wilke, M., Ruijter, G., Bierau, J. R. & Blom, H. J., 1 Mar 2024, In: JIMD reports. 65, 2, p. 49-55 7 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Adaptive behavior assessed by Vineland-3 as comprehensive outcome measure in vanishing white matter

  Schoenmakers, D. H., van Beelen, I., Voermans, M. M. C., Perik, D., Stellingwerff, M. D., Wolf, N. I., Berkhof, J. & van der Knaap, M. S., Mar 2024, In: Annals of clinical and translational neurology. 11, 3, p. 650-661 12 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• A de novo missense mutation in synaptotagmin-1 associated with neurodevelopmental disorder desynchronizes neurotransmitter release

  van Boven, M. A., Mestroni, M., Zwijnenburg, P. J. G., Verhage, M. & Cornelisse, L. N., 2024, (E-pub ahead of print) In: Molecular psychiatry.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Applicability of multiple quantitative magnetic resonance methods in genetic brain white matter disorders

  Stellingwerff, M. D., Al-Saady, M. L., Chan, K-S., Dvorak, A., Marques, J. P., Kolind, S., Roosendaal, S. D., Wolf, N. I., Barkhof, F., van der Knaap, M. S. & Pouwels, P. J. W., 1 Jan 2024, In: Journal of neuroimaging. 34, 1, p. 61-77 17 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• Distinctive cell-free DNA methylation characterizes presymptomatic genetic frontotemporal dementia

  Giannini, L. A. A., Boers, R. G., van der Ende, E. L., Poos, J. M., Jiskoot, L. C., Boers, J. B., van IJcken, W. F. J., Dopper, E. G., Pijnenburg, Y. A. L., Seelaar, H., Meeter, L. H., van Rooij, J. G. J., Scheper, W., Gribnau, J. & van Swieten, J. C., 1 Mar 2024, In: Annals of clinical and translational neurology. 11, 3, p. 744-756 13 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• In Vitro Modelling of Osteogenesis Imperfecta with Patient-Derived Induced Mesenchymal Stem Cells

  Claeys, L., Zhytnik, L., Ventura, L., Wisse, L. E., Eekhoff, E. M. W., Pals, G., Bravenboer, N., Heine, V. M. & Micha, D., 2 Mar 2024, In: International journal of molecular sciences. 25, 6, 3417.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• In vivo base editing of a pathogenic Eif2b5 variant improves vanishing white matter phenotypes in mice

  Böck, D., Revers, I. M., Bomhof, A. S. J., Hillen, A. E. J., Boeijink, C., Kissling, L., Egli, S., Moreno-Mateos, M. A., van der Knaap, M. S., van Til, N. P. & Schwank, G., 2024, (E-pub ahead of print) In: Molecular therapy.

  Research output: Contribution to journal › Article › Academic › peer-review

• Lithium: effects in animal models of vanishing white matter are not promising

  Witkamp, D., Oudejans, E., Hoogterp, L., Hu-A-Ng, G. V., Glaittli, K. A., Stevenson, T. J., Huijsmans, M., Abbink, T. E. M., van der Knaap, M. S. & Bonkowsky, J. L., 2024, In: Frontiers in neuroscience. 18, 1275744.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Marchiafava-Bignami disease: why not Marchiafava-Bignami-Carducci disease?

  Bugiani, M. & Bugiani, O., 2024, (E-pub ahead of print) In: Neurological sciences.

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

• Marked IDO2 expression and activity related to autophagy and apoptosis in brain tissue of fatal tuberculous meningitis

  Guo, L., Zaharie, S-D., Marceline van Furth, A., van der Wel, N. N., Grootemaat, A. E., Zhang, L., Bugiani, M., Kruger, M., van der Kuip, M. & Lutter, R., 1 May 2024, In: Tuberculosis (Edinburgh, Scotland). 146, 102495.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature

  Passchier, E. M. J., Bisseling, Q., Helman, G., van Spaendonk, R. M. L., Simons, C., Olsthoorn, R. C. L., van der Veen, H., Abbink, T. E. M., van der Knaap, M. S. & Min, R., 29 Feb 2024, In: Frontiers in genetics. 15, p. 1-21 21 p., 1352947.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Neonatal brain injury unravels transcriptional and signaling changes underlying the reactivation of cortical progenitors

  Foucault, L., Capeliez, T., Angonin, D., Lentini, C., Bezin, L., Heinrich, C., Parras, C., Donega, V., Marcy, G. & Raineteau, O., 27 Feb 2024, In: Cell reports. 43, 2, p. 113734 113734.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Neuron-to-astrocyte proteostatic stress signaling in response to tau pathology

  Batenburg, K. L. & Scheper, W., 1 Mar 2024, In: Neural Regeneration Research. 19, 3, p. 505-506 2 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management

  Laugwitz, L., Schoenmakers, D. H., Adang, L. A., Beck-Woedl, S., Bergner, C., Bernard, G., Bley, A., Boyer, A., Calbi, V., Dekker, H., Eichler, F., Eklund, E., Fumagalli, F., Gavazzi, F., Grønborg, S. W., van Hasselt, P., Langeveld, M., Lindemans, C., Mochel, F., Oberg, A., & 8 othersRam, D., Saunier-Vivar, E., Schöls, L., Scholz, M., Sevin, C., Zerem, A., Wolf, N. I. & Groeschel, S., 1 Mar 2024, In: European Journal of Paediatric Neurology. 49, p. 141-154 14 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Pridopidine subtly ameliorates motor skills in a mouse model for vanishing white matter

  Oudejans, E., Witkamp, D., Hu-A-ng, G. V., Hoogterp, L., Leeuwen, G. V. R., Kruijff, I., Schonewille, P., Mouttalibi, Z. L. E., Bartelink, I., van der Knaap, M. S. & Abbink, T. E. M., 1 Mar 2024, In: Life Science Alliance. 7, 3, p. 1-10 10 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Progressive demyelinating polyneuropathy after hematopoietic cell transplantation in metachromatic leukodystrophy: a case series

  Beerepoot, S., Boelens, J. J., Lindemans, C., de Witte, M. A., Nierkens, S., Vrancken, A. F. J. E., van der Knaap, M. S., Bugiani, M. & Wolf, N. I., 2024, In: Journal of neurology.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity in STXBP1-Related Disorder Patient Neurons

  van Berkel, A. A., Lammertse, H. C. A., Öttl, M., Koopmans, F., Misra-Isrie, M., Meijer, M., Dilena, R., van Hasselt, P. M., Engelen, M., van Haelst, M., Smit, A. B., van der Sluis, S., Toonen, R. F. & Verhage, M., Jan 2024, In: Biological Psychiatry Global Open Science. 4, 1, p. 284-298 15 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• SARS-CoV-2 infection causes dopaminergic neuron senescence

  Yang, L., Kim, T. W., Han, Y., Nair, M. S., Harschnitz, O., Zhu, J., Wang, P., Koo, S. Y., Lacko, L. A., Chandar, V., Bram, Y., Zhang, T., Zhang, W., He, F., Pan, C., Wu, J., Huang, Y., Evans, T., van der Valk, P., Titulaer, M. J., & 8 othersSpoor, J. K. H., Furler O'Brien, R. L., Bugiani, M., D.J. van de Berg, W., Schwartz, R. E., Ho, D. D., Studer, L. & Chen, S., 1 Feb 2024, In: Cell Stem Cell. 31, 2, p. 196-211.e6

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  4 Citations (Scopus)

• Tomosyns attenuate SNARE assembly and synaptic depression by binding to VAMP2-containing template complexes

  Meijer, M., Öttl, M., Yang, J., Subkhangulova, A., Kumar, A., Feng, Z., van Voorst, T. W., Groffen, A. J., van Weering, J. R. T., Zhang, Y. & Verhage, M., 1 Dec 2024, In: Nature communications. 15, 1, p. 1-20 20 p., 2652.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Transcriptomic and morphological maturation of human astrocytes in cerebral organoids

  Verkerke, M., Berdenis van Berlekom, A., Donega, V., Vonk, D., Sluijs, J. A., Butt, N. F., Kistemaker, L., de Witte, L. D., Pasterkamp, R. J., Middeldorp, J. & Hol, E. M., Feb 2024, In: GLIA. 72, 2, p. 362-374 13 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  2 Citations (Scopus)

• Viral presence and immunopathology in a kidney transplant recipient with fatal COVID-19: a clinical autopsy report

  van Eijk, L. E., Bourgonje, A. R., Mastik, M. F., Snippe, D., Bulthuis, M. L. C., Vos, W., Bugiani, M., Smit, J. M., Berger, S. P., van der Voort, P. H. J., van Goor, H., den Dunnen, W. F. A. & Hillebrands, J-L., 1 Apr 2024, In: Journal of leukocyte biology. 115, 4, p. 780-789 10 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
• 2023

  A 3D human co-culture to model neuron-astrocyte interactions in tauopathies

  Batenburg, K. L., Sestito, C., Cornelissen-Steijger, P., van Weering, J. R. T., Price, L. S., Heine, V. M. & Scheper, W., 1 Dec 2023, In: Biological Procedures Online. 25, 1, 4.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  5 Citations (Scopus)

• A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis

  Misceo, D., Lirussi, L., Strømme, P., Sumathipala, D., Guerin, A., Wolf, N. I., Server, A., Stensland, M., Dalhus, B., Tolun, A., Kroes, H. Y., Nyman, T. A., Nilsen, H. L. & Frengen, E., 1 Aug 2023, In: Brain. 146, 8, p. 3513-3527 15 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• A Human Neuron/Astrocyte Co-culture to Model Seeded and Spontaneous Intraneuronal Tau Aggregation

  Batenburg, K. L., Rohde, S. K., Cornelissen-Steijger, P., Breeuwsma, N., Heine, V. M. & Scheper, W., 1 Oct 2023, In: Current protocols. 3, 10, p. e900 e900.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• ALL-tRNAseq enables robust tRNA profiling in tissue samples

  Scheepbouwer, C., Aparicio-Puerta, E., Gomez-Martin, C., Verschueren, H., van Eijndhoven, M., Wedekind, L. E., Giannoukakos, S., Hijmering, N., Gasparotto, L., van der Galien, H. T., van Rijn, R. S., Aronica, E., Kibbelaar, R., Heine, V. M., Wesseling, P., Noske, D. P., Vandertop, W. P., de Jong, D., Pegtel, D. M., Hackenberg, M., & 3 othersWurdinger, T., Gerber, A. & Koppers-Lalic, D., 1 Mar 2023, In: Genes and Development. 37, 5-6, p. 243-257 15 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  8 Citations (Scopus)

• Altered collagen I and premature pulmonary embryonic differentiation in patients with OI type II

  Storoni, S., Celli, L., Breur, M., Micha, D., Verdonk, S. J. E., Maugeri, A., van den Aardweg, J. G., Riminucci, M., Eekhoff, E. M. W. & Bugiani, M., 1 Jul 2023, In: Physiological reports. 11, 13, p. e15737 e15737.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• An Atypical, Staged Cell Death Pathway Induced by Depletion of SNARE-Proteins MUNC18-1 or Syntaxin-1

  Feringa, F. M., van Berkel, A. A., Nair, A. & Verhage, M., 18 Jan 2023, In: The Journal of neuroscience : the official journal of the Society for Neuroscience. 43, 3, p. 347-358 12 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• A novel role for MLC1 in regulating astrocyte–synapse interactions

  Kater, M. S. J., Baumgart, K. F., Badia-Soteras, A., Heistek, T. S., Carney, K. E., Timmerman, A. J., van Weering, J. R. T., Smit, A. B., van der Knaap, M. S., Mansvelder, H. D., Verheijen, M. H. G. & Min, R., Jul 2023, In: GLIA. 71, 7, p. 1770-1785 16 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema: old and new players in controlling brain oedema

  van der Knaap, M. S., Passchier, E. M. J., Kerst, S., Brouwers, E., Hamilton, E. M. C., Bisseling, Q., Bugiani, M., Waisfisz, Q., Kitchen, P., Unger, L., Breur, M., Hoogterp, L., de Vries, S. I., Abbink, T. E. M., Kole, M. H. P., Leurs, R., Vischer, H. F., Brignone, M. S., Ambrosini, E., Feillet, F., & 4 othersBorn, A. P., Epstein, L. G., Mansvelder, H. D. & Min, R., 1 Aug 2023, In: Brain : a journal of neurology. 146, 8, p. 3444-3454 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  6 Citations (Scopus)

• A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy

  Rumping, L., Pouwels, P. J. W., Wolf, N. I., Rehmann, H., Wamelink, M. M. C., Waisfisz, Q., Jans, J. J. M., Prinsen, H. C. M. T., van de Kamp, J. M. & van Hasselt, P. M., 1 May 2023, In: JIMD reports. 64, 3, p. 217-222 6 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Atrial inflammation and microvascular thrombogenicity are increased in deceased COVID-19 patients

  Wu, L., Jiang, Z., Meulendijks, E. R., Baylan, U., Waas, I. S. E., Bugiani, M., Tuinman, P. R., Fronczek, J., Heunks, L. M. A., de Groot, J. R., van Rossum, A. C., Niessen, H. W. M. & Krijnen, P. A. J., 1 May 2023, In: Cardiovascular pathology. 64, 107524.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  3 Citations (Scopus)

• Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis

  Undiagnosed Diseases Network, 6 Apr 2023, In: American journal of human genetics. 110, 4, p. 663-680 18 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia

  van de Kamp, J. M., Bökenkamp, A., Smith, D. E. C., Wamelink, M. M. C., Jansen, E. E. W., Struys, E. A., Waisfisz, Q., Verkleij, M., Hartmann, M. F., Wang, R., Wudy, S. A., Paganini, C., Rossi, A. & Finken, M. J. J., Jan 2023, In: Clinical genetics. 103, 1, p. 45-52 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• Bronchial obstruction in osteogenesis imperfecta can be detected by forced oscillation technique

  Storoni, S., Verdonk, S. J. E., Micha, D., Jak, P. M. C., Bugiani, M., Eekhoff, E. M. W. & van den Aardweg, J. G., 2023, In: Frontiers in Medicine. 10, 1301873.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates

  Schoenmakers, D. H., Leferink, P. S., Vanderver, A., Bonkowsky, J. L., Krägeloh-Mann, I., Bernard, G., Bertini, E., Fatemi, A., Fogel, B. L., Wolf, N. I., Skwirut, D., Buck, A., Holberg, B., Saunier-Vivar, E. F., Rauner, R., Dekker, H., van Bokhoven, P., Stellingwerff, M. D., Berkhof, J. & van der Knaap, M. S., 1 Dec 2023, In: BMC Neurology. 23, 1, 305.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• Cortical interneuron development is affected in 4H leukodystrophy

  Dooves, S., Kok, L. M. L., Holmes, D. B., Breeuwsma, N., Breur, M., Bugiani, M., Wolf, N. I. & Heine, V. M., 1 Jul 2023, In: Brain : a journal of neurology. 146, 7, p. 2846-2860 15 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Efficient generation of lower induced motor neurons by coupling Ngn2 expression with developmental cues

  Limone, F., Guerra San Juan, I., Mitchell, J. M., Smith, J. L. M., Raghunathan, K., Meyer, D., Ghosh, S. D., Couto, A., Klim, J. R., Joseph, B. J., Gold, J., Mello, C. J., Nemesh, J., Smith, B. M., Verhage, M., McCarroll, S. A., Pietiläinen, O., Nehme, R. & Eggan, K., 31 Jan 2023, In: Cell reports. 42, 1, p. 1-21 21 p., 111896.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  4 Citations (Scopus)

• Elective and Emergency Deep Brain Stimulation in Refractory Pediatric Monogenetic Movement Disorders Presenting with Dystonia: Current Practice Illustrated by Two Cases: Current Practice illustrated by Two Cases

  van de Pol, L. A., Garofalo, M., Beudel, M., Dijk, J. M., Bonouvrié, L. A., Buizer, A. I., Geytenbeek, J., Prins, R. H. N. & Schuurman, P. R., Feb 2023, In: Neuropediatrics. 54, 1, p. 44-52 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  2 Citations (Scopus)

• Electron microscopy analysis of astrocyte-synapse interactions shows altered dynamics in an Alzheimer’s disease mouse model

  Kater, M. S. J., Badia-Soteras, A., van Weering, J. R. T., Smit, A. B. & Verheijen, M. H. G., 26 Jan 2023, In: Frontiers in cellular neuroscience. 17, p. 1-8 8 p., 1085690.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  5 Citations (Scopus)

• Endothelial Permeability and the Angiopoietin/Tie2 System Following Mild and Severe COVID-19

  Ibelings, R., van den Brom, C. E. & the Amsterdam UMC COVID-19 biobank study group, 1 Sept 2023, In: Artery Research. 29, 3, p. 83-93 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA

  Bugiani, M., Abbink, T. E. M., Edridge, A. W. D., van der Hoek, L., Hillen, A. E. J., van Til, N. P., Hu-A-Ng, G. V., Breur, M., Aiach, K., Drevot, P., Hocquemiller, M., Laufer, R., Wijburg, F. A. & van der Knaap, M. S., Jun 2023, In: Annals of clinical and translational neurology. 10, 6, p. 904-917 14 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  2 Citations (Scopus)

• Gross Motor Function in Pediatric Onset TUBB4A-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A

  Gavazzi, F., Patel, V., Charsar, B., Glanzman, A., Erler, J., Sevagamoorthy, A., McKenzie, E., Kornafel, T., Ballance, E., Pierce, S. R., Teng, M., Formanowski, B., Woidill, S., Shults, J., Wassmer, E., Tonduti, D., Magrinelli, F., Bernard, G., Van Der Knaap, M., Wolf, N., & 2 othersAdang, L. & Vanderver, A., Aug 2023, In: Journal of child neurology. 38, 8-9, p. 498-504 7 p.

  Research output: Contribution to journal › Article › Academic › peer-review

• Intraneuronal tau aggregation induces the integrated stress response in astrocytes

  Batenburg, K. L., Kasri, N. N., Heine, V. M. & Scheper, W., 29 Mar 2023, In: Journal of molecular cell biology. 14, 10, p. 1-19 19 p., mjac071.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  4 Citations (Scopus)

• ISR mRNAs as potential blood biomarkers in patients with vanishing white matter

  Oudejans, E., Rooijen-van Leeuwen, G. V., Takanohashi, A., van der Sluis, S., Abbink, T. E. M., Vanderver, A. L. & van der Knaap, M. S., 1 Dec 2023, In: Brain Disorders. 12, p. 1-6 6 p., 100101.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Mapping localization of 21 endogenous proteins in the Golgi apparatus of rodent neurons

  van Bommel, D. M., Toonen, R. F. & Verhage, M., 1 Dec 2023, In: Scientific reports. 13, 1, p. 1-9 9 p., 2871.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Maximal Fusion Capacity and Efficient Replenishment of the Dense Core Vesicle Pool in Hippocampal Neurons

  Baginska, U., Moro, A., Toonen, R. F. & Verhage, M., 8 Nov 2023, In: Journal of neuroscience. 43, 45, p. 7616-7625 10 p.

  Research output: Contribution to journal › Article › Academic › peer-review

• Megalencephalic Leukoencephalopathy with Subcortical Cysts

  van der Knaap, M. S., 2023, In: Journal of Pediatric Neurology.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Microcircuit failure in STXBP1 encephalopathy leads to hyperexcitability

  dos Santos, A. B., Larsen, S. D., Guo, L., Barbagallo, P., Montalant, A., Verhage, M., Sørensen, J. B. & Perrier, J-F., 19 Dec 2023, In: Cell Reports Medicine. 4, 12, p. 1-18 18 p., 101308.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy

  Al-Saady, M., Beerepoot, S., Plug, B. C., Breur, M., Galabova, H., Pouwels, P. J. W., Boelens, J-J., Lindemans, C., van Hasselt, P. M., Matzner, U., Vanderver, A., Bugiani, M., van der Knaap, M. S. & Wolf, N. I., Jul 2023, In: Annals of clinical and translational neurology. 10, 7, p. 1146-1159 14 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  4 Citations (Scopus)

• Pelizaeus-Merzbacher Disease: A Caregiver Assessment of Disease Impact

  Moore, K. M., Wolf, N. I., Hobson, G., Bowyer, K., McSherry, J., Hartin, G., Wilde, C., Shapiro, S., Frank, J., Manley, D. & Junge, C., 1 Feb 2023, In: Journal of child neurology. 38, 1-2, p. 78-84 7 p.

  Research output: Contribution to journal › Article › Academic › peer-review