Marka Van Blitterswijk, MD, PhD

  • 3003 Citations
  • 31 Scopus h-Index
20092019
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  • 21 Similar Profiles
Amyotrophic Lateral Sclerosis Medicine & Life Sciences
Chromosomes, Human, Pair 9 Medicine & Life Sciences
Mutation Medicine & Life Sciences
Open Reading Frames Medicine & Life Sciences
Frontotemporal Dementia Medicine & Life Sciences
Frontotemporal Lobar Degeneration Medicine & Life Sciences
Motor Neuron Disease Medicine & Life Sciences
Genes Medicine & Life Sciences

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Research Output 2009 2019

  • 3003 Citations
  • 31 Scopus h-Index
  • 57 Article
  • 2 Review article
  • 1 Letter
  • 1 Short survey
4 Citations (Scopus)

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., 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. V., Jan 1 2019, In : Acta neuropathologica.

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
Frontotemporal Dementia
Genome
Genes
Mutation

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
Frontotemporal Lobar Degeneration
Microglia
Mutation
Immunohistochemistry
51 Citations (Scopus)

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

Kinesin
Genome
Mutation
Genes
Genome-Wide Association Study
11 Citations (Scopus)

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

Technology
Nucleotides
Nanopores
Plasmids
Clustered Regularly Interspaced Short Palindromic Repeats
11 Citations (Scopus)

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

Pottier, C., Zhou, X., Perkerson, R. B., Baker, M., Jenkins, G. D., Serie, D. J., Ghidoni, R., Benussi, L., Binetti, G., López de Munain, A., Zulaica, M., Moreno, F., Le Ber, I., Pasquier, F., Hannequin, D., Sánchez-Valle, R., Antonell, A., Lladó, A., Parsons, T. M., Finch, N. C. A. & 113 others, Finger, E. C., Lippa, C. F., Huey, E. D., Neumann, M., Heutink, P., Synofzik, M., Wilke, C., Rissman, R. A., Slawek, J., Sitek, E., Johannsen, P., Nielsen, J. E., Ren, Y., Van Blitterswijk, M., DeJesus-Hernandez, M., Christopher, E., Murray, M. E., Bieniek, K. F., Evers, B. M., Ferrari, C., Rollinson, S., Richardson, A., Scarpini, E., Fumagalli, G. G., Padovani, A., Hardy, J., Momeni, P., Ferrari, R., Frangipane, F., Maletta, R., Anfossi, M., Gallo, M., Petrucelli, L., Suh, E. R., Lopez, O. L., Wong, T. H., van Rooij, J. G. J., Seelaar, H., Mead, S., Caselli, R. J., Reiman, E. M., Noel Sabbagh, M., Kjolby, M., Nykjaer, A., Karydas, A. M., Boxer, A. L., Grinberg, L. T., Grafman, J., Spina, S., Oblak, A., Mesulam, M. M., Weintraub, S., Geula, C., Hodges, J. R., Piguet, O., Brooks, W. S., Irwin, D. J., Trojanowski, J. Q., Lee, E. B., Josephs, K. A., Parisi, J. E., Taner, N., Knopman, D. S., Nacmias, B., Piaceri, I., Bagnoli, S., Sorbi, S., Gearing, M., Glass, J., Beach, T. G., Black, S. E., Masellis, M., Rogaeva, E., Vonsattel, J. P., Honig, L. S., Kofler, J., Bruni, A. C., Snowden, J., Mann, D., Pickering-Brown, S., Diehl-Schmid, J., Winkelmann, J., Galimberti, D., Graff, C., Öijerstedt, L., Troakes, C., Al-Sarraj, S., Cruchaga, C., Cairns, N. J., Rohrer, J. D., Halliday, G. M., Kwok, J. B., van Swieten, J. C., White, C. L., Ghetti, B., Murell, J. R., Mackenzie, I. R. A., Hsiung, G. Y. R., Borroni, B., Rossi, G., Tagliavini, F., Wszolek, Z. K., Petersen, R. C., Bigio, E. H., Grossman, M., Van Deerlin, V. M., Seeley, W. W., Miller, B. L., Graff Radford, N. R., Boeve, B. F., Dickson, D. W., Biernacka, J. M. & Rademakers, R. V., Jun 1 2018, In : The Lancet Neurology. 17, 6, p. 548-558 11 p.

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
Inborn Genetic Diseases
Genome-Wide Association Study
Age of Onset
Meta-Analysis