Amsterdam Neuroscience - Cellular & Molecular Mechanisms

Research output

Research output per year 1986 2017 2018 2019 2021 2023

• 1057 Article
• 79 Review article
• 55 Meeting Abstract
• 49 Phd-Thesis - Research and graduation internal
• 117 More
  • 29 Chapter
  • 29 Comment/Letter to the editor
  • 20 Letter
  • 15 Editorial
  • 13 Erratum/Corrigendum
  • 3 Paper
  • 3 Short survey
  • 1 Book
  • 1 Conference contribution
  • 1 Abstract
  • 1 Software
  • 1 Phd-Thesis - Research and graduation external

Research output per year

Research output per year

Search results

• 2023

  Basal nuclei are not involved in early metachromatic leukodystrophy

  Beerepoot, S., Schoenmakers, D. H., van der Knaap, M. S. & Wolf, N. I., 1 May 2023, In: Clinical Neurology and Neurosurgery. 228, 107696.

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

• Reply to “Type I IFN Signature in NOTCH1-Related Leukoencephalopathy”

  Verhoeven, D., Tromp, S. A. M., van der Knaap, M. S. & Kuijpers, T. W., May 2023, In: Annals of Neurology. 93, 5, p. 1043-1045 3 p.

  Research output: Contribution to journal › Letter › Academic › peer-review
• 2022

  Correspondence on “Expanded phenotype of AARS1-related white matter disease” by Helman et al

  Leidi, A., Previtali, R., Parazzini, C., Raviglione, F., Carelli, S., Mendes, M. I., Salomons, G. S., Iascone, M. & Tonduti, D., 1 May 2022, In: Genetics in Medicine. 24, 5, p. 1152-1153 2 p.

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

• Rapidly progressive dementias — leukodystrophies as a potentially treatable cause

  Wolf, N. I., Pijnenburg, Y. A. L. & van der Knaap, M. S., Dec 2022, In: Nature Reviews Neurology. 18, 12, p. 758 1 p.

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

  Open Access

• REPLY:

  Roosendaal, S. D. & Van Der Knaap, M. S., 1 Mar 2022, In: American Journal of Neuroradiology. 43, 3, p. E13

  Research output: Contribution to journal › Letter › Academic › peer-review
• 2021

  Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization

  Tabolacci, E., Molinario, C., Marangi, G., Nobile, V., Arena, V., Mendes, M. I., Smith, D. E. C., Salomons, G. S., Tana, M., Costa, S., Vento, G. & Genuardi, M., Apr 2021, In: Clinical Genetics. 99, 4, p. 601-603 3 p.

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

• Intramuscular adipose tissue at level Th12 is associated with survival in COVID-19

  Amsterdam UMC Covid-19 Biobank, 1 Jun 2021, In: Journal of Cachexia, Sarcopenia and Muscle. 12, 3, p. 823-827 5 p.

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

  Open Access

• Reduction of GABA subunit theta-containing cortical neurons in schizophrenia

  Dijkstra, A. A., Gami-Patel, P., Rozemuller, A. J. M., Bugiani, M., Pijnenburg, Y. A. L., Smit, G. A. B., Dols, A. & Hoozemans, J. J. M., Feb 2021, In: Schizophrenia Research. 228, p. 611-613 3 p.

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

  Open Access
• 2018

  Leukodystrophies — much more than just diseases of myelin

  van der Knaap, M. S. & Bugiani, M., 1 Dec 2018, In: Nature Reviews Neurology. 14, 12, p. 747-748 2 p.

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

• Plasma FGF23 is not elevated in prostate cancer

  Vlot, M. C., Bijnsdorp, I., den Heijer, M., de Jonge, R., van Moorselaar, R. J. A. & Heijboer, A. C., 1 Mar 2018, In: Clinica Chimica Acta. 478, p. 129-131 3 p.

  Research output: Contribution to journal › Letter › Academic › peer-review
• 2017

  A multicenter effort to improve comparability of vitamin B6 assays in whole blood

  Roelofsen-De Beer, R. J. A. C., Van Zelst, B. D., Kos, S., Maatman, R. G. H. J., De Jonge, R. & De Rijke, Y. B., 27 Nov 2017, In: Clinical Chemistry and Laboratory Medicine. 56, 1, p. e23-e26

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

• Author response: Acute intermittent porphyria-related leukoencephalopathy

  Van Der Knaap, M. S. & Kevelam, S. H., 14 Feb 2017, In: Neurology. 88, 7, p. 718-719 2 p.

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

• Copy number variations as potential diagnostic and prognostic markers for CNS melanocytic neoplasms in neurocutaneous melanosis

  van Engen-van Grunsven, A. C. H., Rabold, K., Küsters-Vandevelde, H. V. N., Rijntjes, J., Djafarihamedani, M., Hehir-Kwa, J. Y., Küsters, B., Willemsen, M. A. A. P., van der Burgt, I., Wesseling, P., Blokx, W. A. M. & Groenen, P. J. T. A., 1 Feb 2017, In: Acta Neuropathologica. 133, 2, p. 333-335 3 p.

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

• Genotype-phenotype correlation in ATAD3A deletions: Not just of scientific relevance

  Peeters-Scholte, C. M. P. C. D., Adama Van Scheltema, P. N., Klumper, F. J. C. M., Everwijn, S. M. P., Koopmans, M., Hoffer, M. J. V., Koopmann, T. T., Ruivenkamp, C. A. L., Steggerda, S. J., Van Der Knaap, M. S. & Santen, G. W. E., 1 Nov 2017, In: Brain. 140, 11, p. e66

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

• Identification of 3 Novel Patients with CLCN2-Related Leukoencephalopathy due to CLCN2 Mutations

  Zeydan, B., Uygunoglu, U., Altintas, A., Saip, S., Siva, A., Abbink, T. E. M., Van Der Knaap, M. S. & Yalcinkaya, C., 1 Sept 2017, In: European Neurology. 78, 3-4, p. 125-127 3 p.

  Research output: Contribution to journal › Letter › Academic › peer-review
• 2003

  Forget about "van der Knaap syndrome," forget about glycine (multiple letters)

  Van der Knaap, M. S. & Sener, R. N., May 2003, In: American Journal of Neuroradiology. 24, 5, p. 1030 1 p.

  Research output: Contribution to journal › Letter › Academic › peer-review
• 2002

  Association of WKL1/MLC1 with catatonic schizophrenia

  Leegwater, P. A. J., Boor, P. K. I., Pronk, J. C., Van der Knaap, M. S., Meyer, J., Scherer, S. J., Mössner, R. & Lesch, K. P., 2002, In: Molecular Psychiatry. 7, 10, p. 1037-1038 2 p.

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

  Open Access

• Van gen naar ziekte; een stoornis in de regulatie van de eiwitproductie leidend tot 'vanishing white matter'

  Translated title of the contribution: From gene to disease; a disorder in the regulation of protein production leading to vanishing white matter [5]Marsman, J. W. P. & Van Der Knaap, M. S., 23 Nov 2002, In: Nederlands Tijdschrift voor Geneeskunde. 146, 47, p. 2266 1 p.

  Research output: Contribution to journal › Letter › Academic › peer-review
• 1999

  Phenotypic variation in leukoencephalopathy with vanishing white matter [3] (multiple letters)

  Rodriguez, D., Gelot, A., Van der Knaap, M. S. & Kamphorst, W., 1999, In: Neurology. 53, 6, p. 1373-1374 2 p.

  Research output: Contribution to journal › Letter › Academic › peer-review
• 1993

  FOLIUMZUUR VOOR ALLE FERTIELE VROUWEN? [3]

  Translated title of the contribution: Folic acid for all fertile women? [3]Van Dongen, A. M., Cornel, M. C., De Jong-Van Den Berg, L. T. W., Steegers-Theunissen, R. P. M., Ten Kate, L. P., Roegholt, L. P., Barkhof, F., Boers, G. H. J. & Eskes, T. K. A. B., 1 Jan 1993, In: Nederlands Tijdschrift voor Geneeskunde. 137, 33, p. 1682-1684 3 p.

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