Marka Van Blitterswijk, MD, PhD

  • 3230 Citations
  • 31 Scopus h-Index
20092019
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Research Output 2009 2019

  • 3230 Citations
  • 31 Scopus h-Index
  • 59 Article
  • 2 Review article
  • 1 Letter
  • 1 Short survey
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
Frontotemporal Lobar Degeneration
Motor Neuron Disease
Monomeric GTP-Binding Proteins
Dipeptides
GTP Phosphohydrolase Activators
9 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., 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

Frontotemporal Lobar Degeneration
Frontotemporal Dementia
Genome
Genes
Mutation
1 Citation (Scopus)

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
Apraxias
2018
72 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
14 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
14 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

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

Myoclonic Epilepsy
Genes
3 Citations (Scopus)

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

Haplotypes
Temporal Lobe
Gene Expression
Cerebellum
Brain
13 Citations (Scopus)

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
Dipeptides
Amyotrophic Lateral Sclerosis
Fathers
RNA
Pathology
2017
5 Citations (Scopus)

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

Chromosomes, Human, Pair 9
Prealbumin
Homeobox Genes
Open Reading Frames
Up-Regulation
48 Citations (Scopus)

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

Genome
Friedreich Ataxia
Fragile X Syndrome
Polymerase Chain Reaction
Amyotrophic Lateral Sclerosis
25 Citations (Scopus)

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

Chromosomes, Human, Pair 9
Open Reading Frames
Antisense RNA
RNA
Dipeptides
50 Citations (Scopus)

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

Amyotrophic Lateral Sclerosis
RNA
Proteins
Antisense Oligonucleotides
Therapeutics
25 Citations (Scopus)

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

Frontotemporal Lobar Degeneration
Amyotrophic Lateral Sclerosis
Brain
RNA Polymerase II
RNA Sequence Analysis
2016
8 Citations (Scopus)

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

Induced Pluripotent Stem Cells
Amyotrophic Lateral Sclerosis
5-Methylcytosine
Mutation
Cytosine
68 Citations (Scopus)

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

Ubiquitinated Proteins
mutations
Ubiquitin-Protein Ligase Complexes
proteins
Mutation
77 Citations (Scopus)

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Kenna, K. P., Van Doormaal, P. T. C., Dekker, A. M., Ticozzi, N., Kenna, B. J., Diekstra, F. P., Van Rheenen, W., Van Eijk, K. R., Jones, A. R., Keagle, P., Shatunov, A., Sproviero, W., Smith, B. N., Van Es, M. A., Topp, S. D., Kenna, A., Miller, J. W., Fallini, C., Tiloca, C., McLaughlin, R. L. & 61 others, Vance, C., Troakes, C., Colombrita, C., Mora, G., Calvo, A., Verde, F., Al-Sarraj, S., King, A., Calini, D., De Belleroche, J., Baas, F., Van Der Kooi, A. J., De Visser, M., Ten Asbroek, A. L. M. A., Sapp, P. C., McKenna-Yasek, D., Polak, M., Asress, S., Muñoz-Blanco, J. L., Strom, T. M., Meitinger, T., Morrison, K. E., Lauria, G., Williams, K. L., Leigh, P. N., Nicholson, G. A., Blair, I. P., Leblond, C. S., Dion, P. A., Rouleau, G. A., Pall, H., Shaw, P. J., Turner, M. R., Talbot, K., Taroni, F., Boylan, K. B., Van Blitterswijk, M., Rademakers, R. V., Esteban-Pérez, J., García-Redondo, A., Van Damme, P., Robberecht, W., Chio, A., Gellera, C., Drepper, C., Sendtner, M., Ratti, A., Glass, J. D., Mora, J. S., Basak, N. A., Hardiman, O., Ludolph, A. C., Andersen, P. M., Weishaupt, J. H., Brown, R. H., Al-Chalabi, A., Silani, V., Shaw, C. E., Van Den Berg, L. H., Veldink, J. H. & Landers, J. E., Sep 1 2016, In : Nature Genetics. 48, 9, p. 1037-1042 6 p.

Research output: Contribution to journalArticle

Amyotrophic Lateral Sclerosis
Exome
Cilia
Microtubules
Netherlands
22 Citations (Scopus)

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

Oligomerization
regulators
proteins
Proteins
loci
49 Citations (Scopus)

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

Dipeptides
Peptide Elongation Factors
Antisense RNA
Transcription Factors
Animal Models
28 Citations (Scopus)

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

Alzheimer Disease
Genes
Exome
Age of Onset
Mutation
2015
14 Citations (Scopus)

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

Amyotrophic Lateral Sclerosis
Epigenomics
RNA
Haploinsufficiency
Poisons
44 Citations (Scopus)

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

Frontotemporal Lobar Degeneration
Chromosomes, Human, Pair 9
Open Reading Frames
Amyotrophic Lateral Sclerosis
Cerebellum
132 Citations (Scopus)

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

Alternative Splicing
Transcriptome
Polyadenylation
Amyotrophic Lateral Sclerosis
Brain
32 Citations (Scopus)

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

Amyotrophic Lateral Sclerosis
Frontotemporal Lobar Degeneration
Mutation
Alleles
Fathers
10 Citations (Scopus)

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

DNA Repeat Expansion
RNA Transport
Frontotemporal Dementia
Cell Nucleus Active Transport
Dipeptides
43 Citations (Scopus)

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

Chromosomes, Human, Pair 9
Introns
Open Reading Frames
Cerebellum
Frontal Lobe
140 Citations (Scopus)

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

Frontotemporal Lobar Degeneration
Motor Neuron Disease
DNA-Binding Proteins
Phosphotransferases
Genome
2014
64 Citations (Scopus)

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. V., Andersen, P. M. & Kubisch, C., 2014, In : Journal of Medical Genetics. 51, 6, p. 419-424 6 p.

Research output: Contribution to journalArticle

Genetic Testing
Polymerase Chain Reaction
Southern Blotting
Amyotrophic Lateral Sclerosis
DNA
1 Citation (Scopus)

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., Taner, N., Wszolek, Z. K. & Rademakers, R. V., 2014, In : European Neurology. 72, 1-2, p. 64-71 8 p.

Research output: Contribution to journalArticle

Industrial Oils
Mutation
Genes
Eastern Europe
Frontotemporal Dementia
54 Citations (Scopus)

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. 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 : Neurobiology of Aging. 35, 10

Research output: Contribution to journalArticle

Chromosomes, Human, Pair 9
Open Reading Frames
Motor Neuron Disease
Motor Neurons
Angelman Syndrome
1 Citation (Scopus)
Amyotrophic Lateral Sclerosis
DNA-Binding Proteins
Mutation
8 Citations (Scopus)

Excess of Rare Damaging TUBA4A Variants Suggests Cytoskeletal Defects in ALS

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

Research output: Contribution to journalArticle

Exome
Amyotrophic Lateral Sclerosis
Neurodegenerative Diseases
Neurons
DNA
20 Citations (Scopus)

Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia

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

Research output: Contribution to journalArticle

Factitious Disorders
Alzheimer Disease
Parkinsonian Disorders
Treatment-Resistant Depressive Disorder
Lewy Bodies
35 Citations (Scopus)

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

Frontotemporal Dementia
Motor Neuron Disease
Chromosomes, Human, Pair 9
Open Reading Frames
Age of Onset
27 Citations (Scopus)

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. V., Zinman, L. & Rogaeva, E., Oct 1 2014, In : Neurology. 83, 16, p. 1476-1478 3 p.

Research output: Contribution to journalArticle

DNA Repeat Expansion
DNA Mutational Analysis
Monozygotic Twins
Amyotrophic Lateral Sclerosis
DNA Methylation
79 Citations (Scopus)

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. 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., Mar 2014, In : Acta Neuropathologica. 127, 3, p. 397-406 10 p.

Research output: Contribution to journalArticle

Frontotemporal Dementia
Chromosomes, Human, Pair 9
Open Reading Frames
Motor Neuron Disease
Odds Ratio
2013
233 Citations (Scopus)

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

Gendron, T. D., Bieniek, K. F., Zhang, Y., 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. V., Boylan, K. B., Dickson, D. W. & Petrucelli, L., 2013, In : Acta Neuropathologica. 126, 6, p. 829-844 16 p.

Research output: Contribution to journalArticle

Nuclear RNA
Amyotrophic Lateral Sclerosis
RNA
Neurodegenerative Diseases
Frontal Lobe
131 Citations (Scopus)

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. 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. V., Oct 2013, In : The Lancet Neurology. 12, 10, p. 978-988 11 p.

Research output: Contribution to journalArticle

Frontotemporal Dementia
Chromosomes, Human, Pair 9
Motor Neuron Disease
Cerebellum
Frontal Lobe
62 Citations (Scopus)

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., 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. V., Oct 8 2013, In : Neurology. 81, 15, p. 1332-1341 10 p.

Research output: Contribution to journalArticle

Chromosomes, Human, Pair 9
Open Reading Frames
Mutation
Southern Blotting
Immunohistochemistry
9 Citations (Scopus)

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

Amyotrophic Lateral Sclerosis
Genes
RNA
Transcription
mutation
3 Citations (Scopus)

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

Research output: Contribution to journalArticle

DNA-Binding Proteins
Parkinson Disease
Mutation
Missense Mutation
Netherlands
21 Citations (Scopus)

Novel causal genes and disease modifiers

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

Research output: Contribution to journalArticle

Modifier Genes
Animal Disease Models
Frontotemporal Dementia
Motor Neuron Disease
Chromosomes, Human, Pair 9
21 Citations (Scopus)
Profilins
Amyotrophic Lateral Sclerosis
Frontotemporal Dementia
Mutation
DNA-Binding Proteins
18 Citations (Scopus)

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. D., Kouri, N., Baker, M., Goodman, I. J., Petrucelli, L., Rademakers, R. V. & Dickson, D. W., 2013, In : Acta Neuropathologica. 126, 4, p. 545-554 10 p.

Research output: Contribution to journalArticle

Sclerosis
Frontotemporal Lobar Degeneration
Dementia
Mutation
Pathology
538 Citations (Scopus)

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

Ash, P. E. A., Bieniek, K. F., Gendron, T. D., Caulfield, T., Lin, W. L., DeJesus-Hernandez, M., Van Blitterswijk, M., Jansen-West, K., Paul, J. W., Rademakers, R. V., 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

Amyotrophic Lateral Sclerosis
Peptides
Neurodegenerative Diseases
RNA
Biomarkers
2012
180 Citations (Scopus)

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 2012, In : Human Molecular Genetics. 21, 17, p. 3776-3784 9 p., dds199.

Research output: Contribution to journalArticle

Amyotrophic Lateral Sclerosis
DNA-Binding Proteins
Mutation
Liposarcoma
Chromosomes, Human, Pair 9
40 Citations (Scopus)

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

Spinal Muscular Atrophy
Motor Neuron Disease
motor neurons
muscular atrophy
Neurons
63 Citations (Scopus)

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

Motor Neuron Disease
Spinal Muscular Atrophy
Amyotrophic Lateral Sclerosis
Dementia
Parkinson Disease
104 Citations (Scopus)
Chromosomes, Human, Pair 9
Open Reading Frames
Neurodegenerative Diseases
RNA
Frontotemporal Dementia
4 Citations (Scopus)

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 2012, In : Archives of Neurology. 69, 6, p. 790-791 2 p.

Research output: Contribution to journalLetter

DNA Mutational Analysis
TRPV Cation Channels
Spinal Muscular Atrophy
Mutation
Genes