Marka Van Blitterswijk, MD, PhD

  • 3339 Citations
  • 31 Scopus h-Index
20092019

Research output per year

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Research Output

  • 3339 Citations
  • 31 Scopus h-Index
  • 59 Article
  • 2 Review article
  • 1 Letter
  • 1 Short survey

Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

Dickson, D. W., Baker, M. C., Jackson, J. L., Dejesus-Hernandez, M., Finch, N. C. A., Tian, S., Heckman, M. G., Pottier, C., Gendron, T. F., Murray, M. E., Ren, Y., Reddy, J. S., Graff-Radford, N. R., Boeve, B. F., Petersen, R. C., Knopman, D. S., Josephs, K. A., Petrucelli, L., Oskarsson, B., Sheppard, J. W. & 3 others, Asmann, Y. W., Rademakers, R. & Van Blitterswijk, M., Oct 8 2019, In : Acta Neuropathologica Communications. 7, 1, 150.

Research output: Contribution to journalArticle

Open Access
  • 1 Scopus citations

    Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

    Pottier, C., Ren, Y., Perkerson, R. B., Baker, M., Jenkins, G. D., van Blitterswijk, M., DeJesus-Hernandez, M., van Rooij, J. G. J., Murray, M. E., Christopher, E., McDonnell, S. K., Fogarty, Z., Batzler, A., Tian, S., Vicente, C. T., Matchett, B., Karydas, A. M., Hsiung, G. Y. R., Seelaar, H., Mol, M. O. & 85 others, Finger, E. C., Graff, C., Öijerstedt, L., Neumann, M., Heutink, P., Synofzik, M., Wilke, C., Prudlo, J., Rizzu, P., Simon-Sanchez, J., Edbauer, D., Roeber, S., Diehl-Schmid, J., Evers, B. M., King, A., Mesulam, M. M., Weintraub, S., Geula, C., Bieniek, K. F., Petrucelli, L., Ahern, G. L., Reiman, E. M., Woodruff, B. K., Caselli, R. J., Huey, E. D., Farlow, M. R., Grafman, J., Mead, S., Grinberg, L. T., Spina, S., Grossman, M., Irwin, D. J., Lee, E. B., Suh, E. R., Snowden, J., Mann, D., Ertekin-Taner, N., Uitti, R. J., Wszolek, Z. K., Josephs, K. A., Parisi, J. E., Knopman, D. S., Petersen, R. C., Hodges, J. R., Piguet, O., Geier, E. G., Yokoyama, J. S., Rissman, R. A., Rogaeva, E., Keith, J., Zinman, L., Tartaglia, M. C., Cairns, N. J., Cruchaga, C., Ghetti, B., Kofler, J., Lopez, O. L., Beach, T. G., Arzberger, T., Herms, J., Honig, L. S., Vonsattel, J. P., Halliday, G. M., Kwok, J. B., White, C. L., Gearing, M., Glass, J., Rollinson, S., Pickering-Brown, S., Rohrer, J. D., Trojanowski, J. Q., Van Deerlin, V., Bigio, E. H., Troakes, C., Al-Sarraj, S., Asmann, Y., Miller, B. L., Graff-Radford, N. R., Boeve, B. F., Seeley, W. W., Mackenzie, I. R. A., van Swieten, J. C., Dickson, D. W., Biernacka, J. M. & Rademakers, R., Jan 1 2019, In : Acta neuropathologica.

    Research output: Contribution to journalArticle

  • 10 Scopus citations

    Microglia in frontotemporal lobar degeneration with progranulin or C9ORF72 mutations

    Sakae, N., Roemer, S. F., Bieniek, K. F., Murray, M. E., Baker, M. C., Kasanuki, K., Graff Radford, N. R., Petrucelli, L., Van Blitterswijk, M., Rademakers, R. V. & Dickson, D. W., Jan 1 2019, (Accepted/In press) In : Annals of Clinical and Translational Neurology.

    Research output: Contribution to journalArticle

    Open Access
  • 1 Scopus citations

    Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

    Answer ALS Foundation, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, SLAGEN Consortium, French ALS Consortium, Project MinE ALS Sequencing Consortium, ITALSGEN Consortium, Genomic Translation for ALS Care (GTAC) Consortium, ALS Sequencing Consortium & NYGC ALS Consortium, Mar 21 2018, In : Neuron. 97, 6, p. 1268-1283.e6

    Research output: Contribution to journalArticle

  • 82 Scopus citations

    Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: Implications for clinical use and genetic discovery efforts in human disease

    Ebbert, M. T. W., Farrugia, S. L., Sens, J. P., Jansen-West, K., Gendron, T. D., Prudencio, M., McLaughlin, I. J., Bowman, B., Seetin, M., Dejesus-Hernandez, M., Jackson, J., Brown, P. H., Dickson, D. W., Van Blitterswijk, M., Rademakers, R. V., Petrucelli, L. & Fryer, J. D., Aug 21 2018, In : Molecular Neurodegeneration. 13, 1, 46.

    Research output: Contribution to journalArticle

  • 16 Scopus citations