Marka Van Blitterswijk, MD, PhD

  • 3283 Citations
  • 31 Scopus h-Index
20092019

Research output per year

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Research Output

2019

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

11 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
2018

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

85 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

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

20 Scopus citations

Repeat expansions in myoclonic epilepsy

Van Blitterswijk, M. & Rademakers, R. V., Apr 1 2018, In : Nature Genetics. 50, 4, p. 477-478 2 p.

Research output: Contribution to journalShort survey

TMEM106B haplotypes have distinct gene expression patterns in aged brain

Ren, Y., Van Blitterswijk, M., Allen, M., Carrasquillo, M. M., Reddy, J. S., Wang, X., Beach, T. G., Dickson, D. W., Taner, N., Asmann, Y. & Rademakers, R. V., Jul 3 2018, In : Molecular Neurodegeneration. 13, 1, 35.

Research output: Contribution to journalArticle

4 Scopus citations

Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression

McGoldrick, P., Zhang, M., van Blitterswijk, M., Sato, C., Moreno, D., Xiao, S., Zhang, A. B., McKeever, P. M., Weichert, A., Schneider, R., Keith, J., Petrucelli, L., Rademakers, R., Zinman, L., Robertson, J. & Rogaeva, E., Jan 23 2018, In : Neurology. 90, 4, p. e323-e331

Research output: Contribution to journalArticle

Open Access
15 Scopus citations
2017

Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers

Finch, N. A., Wang, X., Baker, M. C., Heckman, M. G., Gendron, T. D., Bieniek, K. F., Wuu, J., Dejesus-Hernandez, M., Brown, P. H., Chew, J., Jansen-West, K. R., Daughrity, L. M., Nicholson, A. M., Murray, M. E., Josephs, K. A., Parisi, J. E., Knopman, D. S., Petersen, R. C., Petrucelli, L., Boeve, B. F. & 8 others, Graff Radford, N. R., Asmann, Y., Dickson, D. W., Benatar, M., Bowser, R., Boylan, K. B., Rademakers, R. V. & Van Blitterswijk, M., Jan 1 2017, In : Neurology: Genetics. 3, 4

Research output: Contribution to journalArticle

5 Scopus citations

Detection of long repeat expansions from PCR-free whole-genome sequence data

The US–Venezuela Collaborative Research Group, Nov 1 2017, In : Genome Research. 27, 11, p. 1895-1903 9 p.

Research output: Contribution to journalArticle

53 Scopus citations

In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers

DeJesus-Hernandez, M., Finch, N. C. A., Wang, X., Gendron, T. D., Bieniek, K. F., Heckman, M. G., Vasilevich, A., Murray, M. E., Rousseau, L., Weesner, R., Lucido, A., Parsons, M., Chew, J., Josephs, K. A., Parisi, J. E., Knopman, D. S., Petersen, R. C., Boeve, B. F., Graff Radford, N. R., de Boer, J. & 6 others, Asmann, Y., Petrucelli, L., Boylan, K. B., Dickson, D. W., Van Blitterswijk, M. & Rademakers, R. V., May 15 2017, (Accepted/In press) In : Acta Neuropathologica. p. 1-15 15 p.

Research output: Contribution to journalArticle

26 Scopus citations

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis

Gendron, T. D., Chew, J., Stankowski, J. N., Hayes, L. R., Zhang, Y., Prudencio, M., Carlomagno, Y., Daughrity, L. M., Jansen-West, K., Perkerson, E. A., O'Raw, A., Cook, C., Pregent, L., Belzil, V., Van Blitterswijk, M., Tabassian, L. J., Lee, C. W., Yue, M., Tong, J., Song, Y. & 59 others, Castanedes-Casey, M., Rousseau, L., Phillips, V., Dickson, D. W., Rademakers, R. V., Fryer, J. D., Rush, B. K., Pedraza, O. D., Caputo, A. M., Desaro, P., Palmucci, C., Robertson, A., Heckman, M. G., Diehl, N. N., Wiggs, E., Tierney, M., Braun, L., Farren, J., Lacomis, D., Ladha, S., Fournier, C. N., McCluskey, L. F., Elman, L. B., Toledo, J. B., McBride, J. D., Tiloca, C., Morelli, C., Poletti, B., Solca, F., Prelle, A., Wuu, J., Jockel-Balsarotti, J., Rigo, F., Ambrose, C., Datta, A., Yang, W., Raitcheva, D., Antognetti, G., McCampbell, A., Van Swieten, J. C., Miller, B. L., Boxer, A. L., Brown, R. H., Bowser, R., Miller, T. M., Trojanowski, J. Q., Grossman, M., Berry, J. D., Hu, W. T., Ratti, A., Traynor, B. J., Disney, M. D., Benatar, M., Silani, V., Glass, J. D., Floeter, M. K., Rothstein, J. D., Boylan, K. B. & Petrucelli, L., Mar 29 2017, In : Science Translational Medicine. 9, 383, eaai7866.

Research output: Contribution to journalArticle

55 Scopus citations

Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients

Prudencio, M., Gonzales, P. K., Cook, C., Gendron, T. D., Daughrity, L. M., Song, Y., Ebbert, M. T. W., Van Blitterswijk, M., Zhang, Y., Jansen-West, K., Baker, M. C., Deture, M., Rademakers, R. V., Boylan, K. B., Dickson, D. W., Petrucelli, L. & Link, C. D., Sep 1 2017, In : Human Molecular Genetics. 26, 17, p. 3421-3431 11 p.

Research output: Contribution to journalArticle

27 Scopus citations
2016

C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells

Esanov, R., Belle, K. C., Van Blitterswijk, M., Belzil, V., Rademakers, R. V., Dickson, D. W., Petrucelli, L., Boylan, K. B., Dykxhoorn, D. M., Wuu, J., Benatar, M., Wahlestedt, C. & Zeier, Z., Mar 1 2016, In : Experimental Neurology. 277, p. 171-177 7 p.

Research output: Contribution to journalArticle

9 Scopus citations

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Williams, K. L., Topp, S., Yang, S., Smith, B., Fifita, J. A., Warraich, S. T., Zhang, K. Y., Farrawell, N., Vance, C., Hu, X., Chesi, A., Leblond, C. S., Lee, A., Rayner, S. L., Sundaramoorthy, V., Dobson-Stone, C., Molloy, M. P., Van Blitterswijk, M., Dickson, D. W., Petersen, R. C. & 48 others, Graff Radford, N. R., Boeve, B. F., Murray, M. E., Pottier, C., Don, E., Winnick, C., McCann, E. P., Hogan, A., Daoud, H., Levert, A., Dion, P. A., Mitsui, J., Ishiura, H., Takahashi, Y., Goto, J., Kost, J., Gellera, C., Gkazi, A. S., Miller, J., Stockton, J., Brooks, W. S., Boundy, K., Polak, M., Muñoz-Blanco, J. L., Esteban-Pérez, J., Rábano, A., Hardiman, O., Morrison, K. E., Ticozzi, N., Silani, V., De Belleroche, J., Glass, J. D., Kwok, J. B. J., Guillemin, G. J., Chung, R. S., Tsuji, S., Brown, R. H., García-Redondo, A., Rademakers, R. V., Landers, J. E., Gitler, A. D., Rouleau, G. A., Cole, N. J., Yerbury, J. J., Atkin, J. D., Shaw, C. E., Nicholson, G. A. & Blair, I. P., Apr 15 2016, In : Nature Communications. 7, 11253.

Research output: Contribution to journalArticle

74 Scopus citations

Prosaposin is a regulator of progranulin levels and oligomerization

Nicholson, A. M., Finch, N. C. A., Almeida, M., Perkerson, R. B., Van Blitterswijk, M., Wojtas, A., Cenik, B., Rotondo, S., Inskeep, V., Almasy, L., Dyer, T., Peralta, J., Jun, G., Wood, A. R., Frayling, T. M., Fuchsberger, C., Fowler, S., Teslovich, T. M., Manning, A. K., Kumar, S. & 20 others, Curran, J., Lehman, D., Abecasis, G., Duggirala, R., Pottier, C., Zahir, H. A., Crook, J., Karydas, A., Mitic, L., Sun, Y., Dickson, D. W., Bu, G. D., Herz, J., Yu, G., Miller, B. L., Ferguson, S., Petersen, R. C., Graff Radford, N. R., Blangero, J. & Rademakers, R. V., Jun 30 2016, In : Nature Communications. 7, 11992.

Research output: Contribution to journalArticle

24 Scopus citations

Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts

Kramer, N. J., Carlomagno, Y., Zhang, Y., Almeida, S., Cook, C., Gendron, T. D., Prudencio, M., Van Blitterswijk, M., Belzil, V., Couthouis, J., Paul, J. W., Goodman, L. D., Daughrity, L., Chew, J., Garrett, A., Pregent, L., Jansen-West, K., Tabassian, L. J., Rademakers, R. V., Boylan, K. & 16 others, Graff Radford, N. R., Josephs, K. A., Parisi, J. E., Knopman, D. S., Petersen, R. C., Boeve, B. F., Deng, N., Feng, Y., Cheng, T. H., Dickson, D. W., Cohen, S. N., Bonini, N. M., Link, C. D., Gao, F. B., Petrucelli, L. & Gitler, A. D., Aug 12 2016, In : Science. 353, 6300, p. 708-712 5 p.

Research output: Contribution to journalArticle

50 Scopus citations

TYROBP genetic variants in early-onset Alzheimer's disease

Pottier, C., Ravenscroft, T. A., Brown, P. H., Finch, N. C. A., Baker, M., Parsons, M., Asmann, Y., Ren, Y., Christopher, E., Levitch, D., Van Blitterswijk, M., Cruchaga, C., Campion, D., Nicolas, G., Richard, A. C., Guerreiro, R., Bras, J. T., Zuchner, S., Gonzalez, M. A., Bu, G. D. & 10 others, Younkin, S. G., Knopman, D. S., Josephs, K. A., Parisi, J. E., Petersen, R. C., Taner, N., Graff Radford, N. R., Boeve, B. F., Dickson, D. W. & Rademakers, R. V., Dec 1 2016, In : Neurobiology of Aging. 48, p. 222.e9-222.e15

Research output: Contribution to journalArticle

29 Scopus citations
2015

Bromodomain inhibitors regulate the C9ORF72 locus in ALS

Zeier, Z., Esanov, R., Belle, K. C., Volmar, C. H., Johnstone, A. L., Halley, P., DeRosa, B. A., Khoury, N., Van Blitterswijk, M., Rademakers, R. V., Albert, J., Brothers, S. P., Wuu, J., Dykxhoorn, D. M., Benatar, M. & Wahlestedt, C., Sep 1 2015, In : Experimental Neurology. 271, p. 241-250 10 p.

Research output: Contribution to journalArticle

15 Scopus citations

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

Gendron, T. D., Van Blitterswijk, M., Bieniek, K. F., Daughrity, L. M., Jiang, J., Rush, B. K., Pedraza, O. D., Lucas, J. A., Murray, M. E., Desaro, P., Robertson, A., Overstreet, K., Thomas, C. S., Crook, J., Castanedes-Casey, M., Rousseau, L., Josephs, K. A., Parisi, J. E., Knopman, D. S., Petersen, R. C. & 9 others, Boeve, B. F., Graff Radford, N. R., Rademakers, R. V., Lagier-Tourenne, C., Edbauer, D., Cleveland, D. W., Dickson, D. W., Petrucelli, L. & Boylan, K. B., Oct 26 2015, In : Acta Neuropathologica. 130, 4, p. 559-573 15 p.

Research output: Contribution to journalArticle

47 Scopus citations

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS

Prudencio, M., Belzil, V., Batra, R., Ross, C. A., Gendron, T. D., Pregent, L. J., Murray, M. E., Overstreet, K. K., Piazza-Johnston, A. E., Desaro, P., Bieniek, K. F., Deture, M., Lee, W. C., Biendarra, S. M., Davis, M. D., Baker, M. C., Perkerson, R. B., Van Blitterswijk, M., Stetler, C. T., Rademakers, R. V. & 5 others, Link, C. D., Dickson, D. W., Boylan, K. B., Li, H. & Petrucelli, L., Aug 30 2015, In : Nature Neuroscience. 18, 8, p. 1175-1182 8 p.

Research output: Contribution to journalArticle

141 Scopus citations

Jump from Pre-mutation to Pathologic Expansion in C9orf72

Xi, Z., Van Blitterswijk, M., Zhang, M., McGoldrick, P., McLean, J. R., Yunusova, Y., Knock, E., Moreno, D., Sato, C., McKeever, P. M., Schneider, R., Keith, J., Petrescu, N., Fraser, P., Tartaglia, M. C., Baker, M. C., Graff Radford, N. R., Boylan, K. B., Dickson, D. W., Mackenzie, I. R. & 4 others, Rademakers, R. V., Robertson, J., Zinman, L. & Rogaeva, E., Mar 12 2015, (Accepted/In press) In : American Journal of Human Genetics.

Research output: Contribution to journalArticle

32 Scopus citations

Neurodegenerative disease: C9orf72 repeats compromise nucleocytoplasmic transport

Van Blitterswijk, M. & Rademakers, R. V., Dec 1 2015, In : Nature Reviews Neurology. 11, 12, p. 670-671 2 p.

Research output: Contribution to journalArticle

10 Scopus citations

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72

Van Blitterswijk, M., Gendron, T. D., Baker, M. C., DeJesus-Hernandez, M., Finch, N. C. A., Brown, P. H., Daughrity, L. M., Murray, M. E., Heckman, M. G., Jiang, J., Lagier-Tourenne, C., Edbauer, D., Cleveland, D. W., Josephs, K. A., Parisi, J. E., Knopman, D. S., Petersen, R. C., Petrucelli, L., Boeve, B. F., Graff Radford, N. R. & 3 others, Boylan, K. B., Dickson, D. W. & Rademakers, R. V., Dec 1 2015, In : Acta Neuropathologica. 130, 6, p. 863-876 14 p.

Research output: Contribution to journalArticle

45 Scopus citations

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

Pottier, C., Bieniek, K. F., Finch, N. C., van de Vorst, M., Baker, M., Perkersen, R., Brown, P., Ravenscroft, T., Van Blitterswijk, M., Nicholson, A. M., Deture, M., Knopman, D. S., Josephs, K. A., Parisi, J. E., Petersen, R. C., Boylan, K. B., Boeve, B. F., Graff Radford, N. R., Veltman, J. A., Gilissen, C. & 3 others, Murray, M. E., Dickson, D. W. & Rademakers, R. V., May 6 2015, In : Acta Neuropathologica. 130, 1, p. 77-92 16 p.

Research output: Contribution to journalArticle

143 Scopus citations
2014

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

Akimoto, C., Volk, A. E., van Blitterswijk, M., Van den Broeck, M., Leblond, C. S., Lumbroso, S., Camu, W., Neitzel, B., Onodera, O., van Rheenen, W., Pinto, S., Weber, M., Smith, B., Proven, M., Talbot, K., Keagle, P., Chesi, A., Ratti, A., van der Zee, J., Alstermark, H. & 23 others, Birve, A., Calini, D., Nordin, A., Tradowsky, D. C., Just, W., Daoud, H., Angerbauer, S., DeJesus-Hernandez, M., Konno, T., Lloyd-Jani, A., de Carvalho, M., Mouzat, K., Landers, J. E., Veldink, J. H., Silani, V., Gitler, A. D., Shaw, C. E., Rouleau, G. A., van den Berg, L. H., Van Broeckhoven, C., Rademakers, R., Andersen, P. M. & Kubisch, C., Jan 1 2014, In : Journal of medical genetics. 51, 6, p. 419-424 6 p.

Research output: Contribution to journalArticle

65 Scopus citations

ALS-FTD complex disorder due to C9ORF72 gene mutation: Description of first polish family

Siuda, J., Lewicka, T., Bujak, M., Opala, G., Golenia, A., Slowik, A., Van Blitterswijk, M., Baker, M., Ertekin-Taner, N., Wszolek, Z. K. & Rademakers, R., Jul 2014, In : European Neurology. 72, 1-2, p. 64-71 8 p.

Research output: Contribution to journalArticle

1 Scopus citations

Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers

van Blitterswijk, M., Mullen, B., Heckman, M. G., Baker, M. C., DeJesus-Hernandez, M., Brown, P. H., Murray, M. E., Hsiung, G. Y. R., Stewart, H., Karydas, A. M., Finger, E., Kertesz, A., Bigio, E. H., Weintraub, S., Mesulam, M., Hatanpaa, K. J., White, C. L., Neumann, M., Strong, M. J., Beach, T. G. & 17 others, Wszolek, Z. K., Lippa, C., Caselli, R., Petrucelli, L., Josephs, K. A., Parisi, J. E., Knopman, D. S., Petersen, R. C., Mackenzie, I. R., Seeley, W. W., Grinberg, L. T., Miller, B. L., Boylan, K. B., Graff-Radford, N. R., Boeve, B. F., Dickson, D. W. & Rademakers, R., Oct 2014, In : Neurobiology of aging. 35, 10, p. 2421.e13-2421.e17

Research output: Contribution to journalArticle

55 Scopus citations
1 Scopus citations

Excess of Rare Damaging TUBA4A Variants Suggests Cytoskeletal Defects in ALS

Rademakers, R. & vanBlitterswijk, M., Oct 22 2014, In : Neuron. 84, 2, p. 241-243 3 p.

Research output: Contribution to journalShort survey

9 Scopus citations

Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia

Bieniek, K. F., Van Blitterswijk, M., Baker, M. C., Petrucelli, L., Rademakers, R. & Dickson, D. W., Jun 2014, In : JAMA neurology. 71, 6, p. 775-781 7 p.

Research output: Contribution to journalArticle

21 Scopus citations

Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene

Van Blitterswijk, M., Mullen, B., Wojtas, A., Heckman, M. G., Diehl, N. N., Baker, M. C., DeJesus-Hernandez, M., Brown, P. H., Murray, M. E., Hsiung, G. Y. R., Stewart, H., Karydas, A. M., Finger, E., Kertesz, A., Bigio, E. H., Weintraub, S., Mesulam, M., Hatanpaa, K. J., White, C. L., Neumann, M. & 19 others, Strong, M. J., Beach, T. G., Wszolek, Z. K., Lippa, C., Caselli, R. J., Petrucelli, L., Josephs, K. A., Parisi, J. E., Knopman, D. S., Petersen, R. C., Mackenzie, I. R., Seeley, W. W., Grinberg, L. T., Miller, B. L., Boylan, K. B., Graff Radford, N. R., Boeve, B. F., Dickson, D. W. & Rademakers, R. V., 2014, In : Molecular Neurodegeneration. 9, p. 38 1 p.

Research output: Contribution to journalArticle

36 Scopus citations

Identical twins with the C9ORF72 repeat expansion are discordant for ALS

Xi, Z., Yunusova, Y., Van Blitterswijk, M., Dib, S., Ghani, M., Moreno, D., Sato, C., Liang, Y., Singleton, A., Robertson, J., Rademakers, R., Zinman, L. & Rogaeva, E., Oct 1 2014, In : Neurology. 83, 16, p. 1476-1478 3 p.

Research output: Contribution to journalComment/debate

29 Scopus citations

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

Van Blitterswijk, M., Mullen, B., Nicholson, A. M., Bieniek, K. F., Heckman, M. G., Baker, M. C., Dejesus-Hernandez, M., Finch, N. A., Brown, P. H., Murray, M. E., Hsiung, G. Y. R., Stewart, H., Karydas, A. M., Finger, E., Kertesz, A., Bigio, E. H., Weintraub, S., Mesulam, M., Hatanpaa, K. J., White, C. L. & 19 others, Strong, M. J., Beach, T. G., Wszolek, Z. K., Lippa, C., Caselli, R., Petrucelli, L., Josephs, K. A., Parisi, J. E., Knopman, D. S., Petersen, R. C., Mackenzie, I. R., Seeley, W. W., Grinberg, L. T., Miller, B. L., Boylan, K. B., Graff-Radford, N. R., Boeve, B. F., Dickson, D. W. & Rademakers, R., Mar 1 2014, In : Acta neuropathologica. 127, 3, p. 397-406 10 p.

Research output: Contribution to journalArticle

81 Scopus citations
2013

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

Gendron, T. F., Bieniek, K. F., Zhang, Y. J., Jansen-West, K., Ash, P. E. A., Caulfield, T., Daughrity, L., Dunmore, J. H., Castanedes-Casey, M., Chew, J., Cosio, D. M., Van Blitterswijk, M., Lee, W. C., Rademakers, R., Boylan, K. B., Dickson, D. W. & Petrucelli, L., Dec 1 2013, In : Acta neuropathologica. 126, 6, p. 829-844 16 p.

Research output: Contribution to journalArticle

247 Scopus citations

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): A cross-sectional cohort study

van Blitterswijk, M., DeJesus-Hernandez, M., Niemantsverdriet, E., Murray, M. E., Heckman, M. G., Diehl, N. N., Brown, P. H., Baker, M. C., Finch, N. C. A., Bauer, P. O., Serrano, G., Beach, T. G., Josephs, K. A., Knopman, D. S., Petersen, R. C., Boeve, B. F., Graff-Radford, N. R., Boylan, K. B., Petrucelli, L., Dickson, D. W. & 1 others, Rademakers, R., Oct 1 2013, In : The Lancet Neurology. 12, 10, p. 978-988 11 p.

Research output: Contribution to journalArticle

138 Scopus citations

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

Van Blitterswijk, M., Baker, M. C., Hernandez, M., Ghidoni, R., Benussi, L., Finger, E., Hsiung, G. Y. R., Kelley, B. J., Murray, M. E., Rutherford, N. J., Brown, P. E., Ravenscroft, T., Mullen, B., Ash, P. E. A., Bieniek, K. F., Hatanpaa, K. J., Karydas, A., Wood, E. M. C., Coppola, G., Bigio, E. H. & 22 others, Lippa, C., Strong, M. J., Beach, T. G., Knopman, D. S., Huey, E. D., Mesulam, M., Bird, T., White, C. L., Kertesz, A., Geschwind, D. H., Van Deerlin, V. M., Petersen, R. C., Binetti, G., Miller, B. L., Petrucelli, L., Wszolek, Z. K., Boylan, K. B., Graff-Radford, N. R., MacKenzie, I. R., Boeve, B. F., Dickson, D. W. & Rademakers, R., Oct 8 2013, In : Neurology. 81, 15, p. 1332-1341 10 p.

Research output: Contribution to journalArticle

63 Scopus citations

Characterization of FUS Mutations in Amyotrophic Lateral Sclerosis Using RNA-Seq

van Blitterswijk, M., Wang, E. T., Friedman, B. A., Keagle, P. J., Lowe, P., Leclerc, A. L., van den Berg, L. H., Housman, D. E., Veldink, J. H. & Landers, J. E., Apr 8 2013, In : PloS one. 8, 4, e60788.

Research output: Contribution to journalArticle

9 Scopus citations

Mutational analysis of TARDBP in Parkinson's disease

van Blitterswijk, M., van Es, M. A., Verbaan, D., van Hilten, J. J., Scheffer, H., van de Warrenburg, B. P., Veldink, J. H. & Van den Berg, L. H., May 2013, In : Neurobiology of aging. 34, 5, p. 1517.e1-1517.e3

Research output: Contribution to journalArticle

3 Scopus citations

Novel causal genes and disease modifiers

Rademakers, R. & Van Blitterswijk, M., Feb 1 2013, In : Nature Reviews Neurology. 9, 2, p. 63-64 2 p.

Research output: Contribution to journalReview article

21 Scopus citations
21 Scopus citations

Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72

Murray, M. E., Bieniek, K. F., Banks Greenberg, M., Dejesus-Hernandez, M., Rutherford, N. J., Van Blitterswijk, M., Niemantsverdriet, E., Ash, P. E., Gendron, T. F., Kouri, N., Baker, M., Goodman, I. J., Petrucelli, L., Rademakers, R. & Dickson, D. W., Aug 7 2013, In : Acta neuropathologica. 126, 4, p. 545-554 10 p.

Research output: Contribution to journalArticle

18 Scopus citations

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

Ash, P. E. A., Bieniek, K. F., Gendron, T. F., Caulfield, T., Lin, W. L., DeJesus-Hernandez, M., Van Blitterswijk, M. M., Jansen-West, K., Paul, J. W., Rademakers, R., Boylan, K. B., Dickson, D. W. & Petrucelli, L., Feb 20 2013, In : Neuron. 77, 4, p. 639-646 8 p.

Research output: Contribution to journalArticle

558 Scopus citations
2012

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

Van Blitterswijk, M., Van Es, M. A., Hennekam, E. A. M., Dooijes, D., Van Rheenen, W., Medic, J., Bourque, P. R., Schelhaas, H. J., Van der Kooi, A. J., De Visser, M., De Bakker, P. I. W., Veldink, J. H. & van den Berg, L. H., Sep 1 2012, In : Human molecular genetics. 21, 17, p. 3776-3784 9 p., dds199.

Research output: Contribution to journalArticle

182 Scopus citations

Genetic Overlap between Apparently Sporadic Motor Neuron Diseases

van Blitterswijk, M., Vlam, L., van Es, M. A., van der Pol, W. L., Hennekam, E. A. M., Dooijes, D., Schelhaas, H. J., van der Kooi, A. J., de Visser, M., Veldink, J. H. & van den Berg, L. H., Nov 14 2012, In : PloS one. 7, 11, e48983.

Research output: Contribution to journalArticle

41 Scopus citations

Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases

Van Rheenen, W., Van Blitterswijk, M., Huisman, M. H. B., Vlam, L., Van Doormaal, P. T. C., Seelen, M., Medic, J., Dooijes, D., De Visser, M., Van Der Kooi, A. J., Raaphorst, J., Schelhaas, H. J., Van Der Pol, W. L., Veldink, J. H. & Van Den Berg, L. H., Aug 28 2012, In : Neurology. 79, 9, p. 878-882 5 p.

Research output: Contribution to journalArticle

63 Scopus citations
104 Scopus citations

Mutations in the TRPV4 gene are not associated with sporadic progressive muscular atrophy.

Vlam, L., Schelhaas, H. J., van Blitterswijk, M., van Vught, P. W. J., de Visser, M., van der Kooi, A. J., van der Pol, W. L. & van den Berg, L. H., Jun 1 2012, In : Archives of neurology. 69, 6, p. 790-791 2 p.

Research output: Contribution to journalLetter

4 Scopus citations

Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients

Van Blitterswijk, M., Van Vught, P. W. J., Van Es, M. A., Schelhaas, H. J., Van der Kooi, A. J., De Visser, M., Veldink, J. H. & Van den Berg, L. H., May 2012, In : Neurobiology of aging. 33, 5, p. 1016.e1-1016.e7

Research output: Contribution to journalArticle

34 Scopus citations