Marka Van Blitterswijk

Emailvanblitterswick.markamayoedu

Research activity per year

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1 Similar Profiles

3 Active
4 Finished

Uncovering new genes and disease modifiers for ALS and related disorders
Van Blitterswijk, M. (PI)
National Institute of Neurological Disorders and Stroke
7/1/25 → 6/30/26
Project: Research project
Frontotemporal dementia and related disorders: transcriptomic profiling, biomarker discovery, and mechanistic insight
Van Blitterswijk, M. (PI) & Gendron, T. D. (CoPI)
4/15/21 → 3/31/26
Project: Research project
Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe)
Benatar, M. (PI), Burns, T. M. (CoPI), Alfano, L. N. (CoPI), McMillan, C. (CoPI), Shy, M. (CoPI), Van Blitterswijk, M. (CoPI) & Taylor, J. P. (CoPI)
9/30/14 → 8/31/26
Project: Research project
C9orf72-mediated features, transcriptomic signatures, and translational studies for frontotemporal dementia and related disorders
Van Blitterswijk, M. (PI)
National Institute of Neurological Disorders and Stroke
6/15/22 → 5/31/25
Project: Research project
Discovery of genetic disease modifiers accounting for substantial variability in survival after ALS onset
Van Blitterswijk, M. (PI)
ALS Association
3/1/18 → 2/28/19
Project: Research project

78 Article
8 Review article
3 Letter
3 Short survey
More

Amyotrophic lateral sclerosis caused by hexanucleotide repeat expansions in C9orf72: from genetics to therapeutics
Mizielinska, S., Hautbergue, G. M., Gendron, T. F., van Blitterswijk, M., Hardiman, O., Ravits, J., Isaacs, A. M. & Rademakers, R., Mar 2025, In: The Lancet Neurology. 24, 3, p. 261-274 14 p.
Research output: Contribution to journal › Review article › peer-review

Open Access
Analysis of the splicing landscape of the frontal cortex in FTLD-TDP reveals subtype specific patterns and cryptic splicing
Faura, J., Heeman, B., Pottier, C., Baker, M. C., DeJesus-Hernandez, M., Küçükali, F., Heiß, L., Wynants, S., Van den Broeck, M., De Rijk, P., De Pooter, T., Joris, G., Finch, N. C. A., Asmann, Y., Strazisar, M., Murray, M. E., Petrucelli, L., Oskarsson, B., Sleegers, K. & Josephs, K. A. & 8 others, Nguyen, A. T., Reichard, R. R., Petersen, R. C., Boeve, B. F., Graff-Radford, N. R., Dickson, D. W., van Blitterswijk, M. & Rademakers, R., Jun 2025, In: Acta neuropathologica. 149, 1, 59.
Research output: Contribution to journal › Article › peer-review

Open Access
Brain transcriptomics highlight abundant gene expression and splicing alterations in non-neuronal cells in aFTLD-U
Alidadiani, S., Faura, J., Wynants, S., Peeters, N., Van den Broeck, M., De Witte, L., Policarpo, R., Cheung, S., Pottier, C., Ghayal, N. B., Mol, M. O., van Blitterswijk, M., Udine, E., DeJesus-Hernandez, M., Baker, M., Finch, N. C. A., Asmann, Y. W., van Rooij, J. G. J., Nguyen, A. T. & Ross Reichard, R. & 25 others, Nana, A. L., Lopez, O. L., Boxer, A. L., Rosen, H. J., Spina, S., Herms, J., Josephs, K. A., Petersen, R. C., Rissman, R. A., Hiniker, A., Ang, L. C., Grinberg, L. T., Halliday, G. M., Boeve, B. F., Graff-Radford, N. R., Seelaar, H., Neumann, M., Kofler, J., White, C. L., Seeley, W. W., van Swieten, J. C., Dickson, D. W., Mackenzie, I. R. A., De Coster, W. & Rademakers, R., Dec 2025, In: Acta neuropathologica. 150, 1, 17.
Research output: Contribution to journal › Article › peer-review

Open Access
Characterizing the expression profile of 3R tau pathology in Pick’s disease
Tamvaka, N., Soto-Beasley, A. I., Gavrielatos, M., Heckman, M. G., Ren, Y., Udine, E., Quicksall, Z. S., Liskey, D., Castanedes-Casey, M., Wszolek, Z. K., Boeve, B. F., Josephs, K. A., Graff-Radford, N., van Blitterswijk, M., Murray, M. E., Roemer, S. F., Dickson, D. W. & Ross, O. A., May 2 2025, In: Science Advances. 11, 18, eadt6105.
Research output: Contribution to journal › Article › peer-review

Open Access
Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing
Pottier, C., Küçükali, F., Baker, M., Batzler, A., Jenkins, G. D., van Blitterswijk, M., Vicente, C. T., De Coster, W., Wynants, S., Van de Walle, P., Ross, O. A., Murray, M. E., Faura, J., Haggarty, S. J., van Rooij, J. G. J., Mol, M. O., Hsiung, G. Y. R., Graff, C., Öijerstedt, L. & Neumann, M. & 99 others, Asmann, Y., McDonnell, S. K., Baheti, S., Josephs, K. A., Whitwell, J. L., Bieniek, K. F., Forsberg, L., Heuer, H., Lago, A. L., Geier, E. G., Yokoyama, J. S., Oddi, A. P., Flanagan, M., Mao, Q., Hodges, J. R., Kwok, J. B., Domoto-Reilly, K., Synofzik, M., Wilke, C., Onyike, C., Dickerson, B. C., Evers, B. M., Dugger, B. N., Munoz, D. G., Keith, J., Zinman, L., Rogaeva, E., Suh, E. R., Gefen, T., Geula, C., Weintraub, S., Diehl-Schmid, J., Farlow, M. R., Edbauer, D., Woodruff, B. K., Caselli, R. J., Donker Kaat, L. L., Huey, E. D., Reiman, E. M., Mead, S., King, A., Roeber, S., Nana, A. L., Ertekin-Taner, N., Knopman, D. S., Petersen, R. C., Petrucelli, L., Uitti, R. J., Wszolek, Z. K., Ramos, E. M., Grinberg, L. T., Tempini, M. L. G., Rosen, H. J., Spina, S., Piguet, O., Grossman, M., Trojanowski, J. Q., Keene, C. D., Jin, L. W., Prudlo, J., Geschwind, D. H., Rissman, R. A., Cruchaga, C., Ghetti, B., Halliday, G. M., Beach, T. G., Serrano, G. E., Arzberger, T., Herms, J., Boxer, A. L., Honig, L. S., Vonsattel, J. P., Lopez, O. L., Kofler, J., White, C. L., Gearing, M., Glass, J., Rohrer, J. D., Irwin, D. J., Lee, E. B., Van Deerlin, V., Castellani, R., Mesulam, M. M., Tartaglia, M. C., Finger, E. C., Troakes, C., Al-Sarraj, S., Dalgard, C. L., Miller, B. L., Seelaar, H., Graff-Radford, N. R., Boeve, B. F., Mackenzie, I. R. A., van Swieten, J. C., Seeley, W. W., Sleegers, K., Dickson, D. W., Biernacka, J. M. & Rademakers, R., Dec 2025, In: Nature communications. 16, 1, 3914.
Research output: Contribution to journal › Article › peer-review

Open Access

Marka Van Blitterswijk, MD, PhD

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Collaborations and top research areas from the last five years

Dive into details

Uncovering new genes and disease modifiers for ALS and related disorders

Frontotemporal dementia and related disorders: transcriptomic profiling, biomarker discovery, and mechanistic insight

Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe)

C9orf72-mediated features, transcriptomic signatures, and translational studies for frontotemporal dementia and related disorders

Discovery of genetic disease modifiers accounting for substantial variability in survival after ALS onset

Amyotrophic lateral sclerosis caused by hexanucleotide repeat expansions in C9orf72: from genetics to therapeutics

Analysis of the splicing landscape of the frontal cortex in FTLD-TDP reveals subtype specific patterns and cryptic splicing

Brain transcriptomics highlight abundant gene expression and splicing alterations in non-neuronal cells in aFTLD-U

Characterizing the expression profile of 3R tau pathology in Pick’s disease

Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing

Marka Van Blitterswijk, MD, PhD

Fingerprint

Collaborations and top research areas from the last five years

Projects

Research output