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  • 81 Scopus h-Index
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2016

FTDP-17 with Pick body-like inclusions associated with a novel tau mutation, p.E372G

Tacik, P., Deture, M., Carlomagno, Y., Lin, W. L., Murray, M. E., Baker, M. C., Josephs, K. A., Boeve, B. F., Wszolek, Z. K., Graff Radford, N. R., Parisi, J. E., Petrucelli, L., Rademakers, R. V., Isaacson, R. S., Heilman, K. M., Petersen, R. C., Dickson, D. W. & Kouri, N., 2016, (Accepted/In press) In : Brain Pathology.

Research output: Contribution to journalArticle

5 Scopus citations

Fulminant corticobasal degeneration: Agrypnia excitata in corticobasal syndrome

Rodriguez-Porcel, F., Lowder, L., Rademakers, R. V., Ravenscroft, T., Ghetti, B., Hagen, M. C. & Espay, A. J., Mar 22 2016, In : Neurology. 86, 12, p. 1164-1166 3 p.

Research output: Contribution to journalArticle

4 Scopus citations
19 Scopus citations

Increased prevalence of autoimmune disease within C9 and FTD/MND cohorts Completing the picture

Miller, Z. A., Sturm, V. E., Camsari, G. B., Karydas, A., Yokoyama, J. S., Grinberg, L. T., Boxer, A. L., Rosen, H. J., Rankin, K. P., Tempini, M. L. G., Coppola, G., Geschwind, D. H., Rademakers, R. V., Seeley, W. W., Graff-Radford, N. R. & Miller, B. L., Dec 1 2016, In : Neurology: Neuroimmunology and NeuroInflammation. 3, 6, e301.

Research output: Contribution to journalArticle

29 Scopus citations

LRRK2 variation and dementia with Lewy bodies

Heckman, M. G., Soto-Ortolaza, A. I., Sanchez Contreras, M. Y., Murray, M. E., Pedraza, O. D., Diehl, N. N., Walton, R., Labbé, C., Lorenzo-Betancor, O., Uitti, R. J., Van Gerpen, J. A., Taner, N., Smith, G. E., Kantarci, K. M., Savica, R., Jones, D. T., Graff-Radford, J., Knopman, D. S., Lowe, V., Jack, C. R. J. & 9 others, Petersen, R. C., Parisi, J. E., Rademakers, R. V., Wszolek, Z. K., Graff Radford, N. R., Ferman, T. J., Dickson, D. W., Boeve, B. F. & Ross, O. A., Oct 1 2016, In : Parkinsonism and Related Disorders. 31, p. 98-103 6 p.

Research output: Contribution to journalArticle

16 Scopus citations

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. & 75 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., 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., D’Alfonso, S., Mazzini, L., Comi, G. P., Del Bo, R., Ceroni, M., Gagliardi, S., Querin, G., Bertolin, C., Corti, S., Cereda, C., Corrado, L., Sorarù, G., Pensato, V. & Castellotti, B., Sep 1 2016, In : Nature Genetics. 48, 9, p. 1037-1042 6 p.

Research output: Contribution to journalArticle

90 Scopus citations

Network-driven plasma proteomics expose molecular changes in the Alzheimer's brain

Jaeger, P. A., Lucin, K. M., Britschgi, M., Vardarajan, B., Huang, R. P., Kirby, E. D., Abbey, R., Boeve, B. F., Boxer, A. L., Farrer, L. A., Finch, N., Graff-Radford, N. R., Head, E., Hofree, M., Huang, R., Johns, H., Karydas, A., Knopman, D. S., Loboda, A., Masliah, E. & 10 others, Narasimhan, R., Petersen, R. C., Podtelezhnikov, A., Pradhan, S., Rademakers, R., Sun, C. H., Younkin, S. G., Miller, B. L., Ideker, T. & Wyss-Coray, T., Apr 26 2016, In : Molecular neurodegeneration. 11, 1, 31.

Research output: Contribution to journalArticle

15 Scopus citations

Primary familial brain calcification in the ‘IBGC2’ kindred: All linkage roads lead to SLC20A2

Grütz, K., Volpato, C. B., Domingo, A., Alvarez-Fischer, D., Gebert, U., Schifferle, G., Buffone, E., Wszolek, Z. K., Rademakers, R. V., Ferbert, A., Hicks, A. A., Klein, C., Pramstaller, P. P. & Westenberger, A., Dec 1 2016, In : Movement Disorders. 31, 12, p. 1901-1904 4 p.

Research output: Contribution to journalArticle

14 Scopus citations

Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation

Lui, H., Zhang, J., Makinson, S. R., Cahill, M. K., Kelley, K. W., Huang, H. Y., Shang, Y., Oldham, M. C., Martens, L. H., Gao, F., Coppola, G., Sloan, S. A., Hsieh, C. L., Kim, C. C., Bigio, E. H., Weintraub, S., Mesulam, M. M., Rademakers, R., MacKenzie, I. R., Seeley, W. W. & 8 others, Karydas, A., Miller, B. L., Borroni, B., Ghidoni, R., Farese, R. V., Paz, J. T., Barres, B. A. & Huang, E. J., May 5 2016, In : Cell. 165, 4, p. 921-935 15 p.

Research output: Contribution to journalArticle

224 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. E., Karydas, A., Mitic, L., Sun, Y., Dickson, D. W., Bu, G., Herz, J., Yu, G., Miller, B. L., Ferguson, S., Petersen, R. C., Graff-Radford, N., Blangero, J. & Rademakers, R., Jun 30 2016, In : Nature communications. 7, 11992.

Research output: Contribution to journalArticle

26 Scopus citations

Soluble sortilin is present in excess and positively correlates with progranulin in CSF of aging individuals

Molgaard, S., Demontis, D., Nicholson, A. M., Finch, N. A., Petersen, R. C., Petersen, C. M., Rademakers, R. V., Nykjaer, A. & Glerup, S., Nov 1 2016, In : Experimental Gerontology. 84, p. 96-100 5 p.

Research output: Contribution to journalArticle

8 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

54 Scopus citations

Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration

Sanchez-Contreras, M., Heckman, M. G., Tacik, P., Diehl, N., Brown, P. H., Soto-Ortolaza, A. I., Christopher, E. A., Walton, R. L., Ross, O. A., Golbe, L. I., Graff Radford, N. R., Wszolek, Z. K., Dickson, D. W. & Rademakers, R. V., 2016, (Accepted/In press) In : Movement Disorders.

Research output: Contribution to journalArticle

14 Scopus citations

The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset alzheimer’s disease in Hispanics in Florida

Ravenscroft, T. A., Pottier, C., Murray, M. E., Baker, M., Christopher, E., Levitch, D., Brown, P. H., Barker, W., Duara, R., Greig-Custo, M., Betancourt, A., English, M., Sun, X., Taner, N., Graff Radford, N. R., Dickson, D. W. & Rademakers, R. V., 2016, In : American Journal of Neurodegenerative Diseases. 5, 1, p. 94-101 8 p.

Research output: Contribution to journalArticle

2 Scopus citations

Tremor in progressive supranuclear palsy

Fujioka, S., Algom, A. A., Murray, M. E., Sanchez-Contreras, M. Y., Tacik, P., Tsuboi, Y., Van Gerpen, J. A., Uitti, R. J., Rademakers, R. V., Ross, O. A., Wszolek, Z. K. & Dickson, D. W., Jan 20 2016, (Accepted/In press) In : Parkinsonism and Related Disorders.

Research output: Contribution to journalArticle

6 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. W., 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. & 10 others, Younkin, S., Knopman, D. S., Josephs, K. A., Parisi, J. E., Petersen, R. C., Ertekin-Taner, N., Graff-Radford, N. R., Boeve, B. F., Dickson, D. W. & Rademakers, R., Dec 1 2016, In : Neurobiology of aging. 48, p. 222.e9-222.e15

Research output: Contribution to journalArticle

29 Scopus citations

What we know about TMEM106B in neurodegeneration

Nicholson, A. M. & Rademakers, R. V., Aug 20 2016, (Accepted/In press) In : Acta Neuropathologica. p. 1-13 13 p.

Research output: Contribution to journalArticle

36 Scopus citations
2015

A novel tau mutation, p.K317N, causes globular glial tauopathy

Tacik, P., DeTure, M., Lin, W. L., Sanchez Contreras, M., Wojtas, A., Hinkle, K. M., Fujioka, S., Baker, M. C., Walton, R. L., Carlomagno, Y., Brown, P. H., Strongosky, A. J., Kouri, N., Murray, M. E., Petrucelli, L., Josephs, K. A., Rademakers, R., Ross, O. A., Wszolek, Z. K. & Dickson, D. W., Aug 25 2015, In : Acta neuropathologica. 130, 2, p. 199-214 16 p.

Research output: Contribution to journalArticle

29 Scopus citations

A novel Tau Mutation in exon 12, P. Q336H, causes hereditary pick disease

Tacik, P., Deture, M., Hinkle, K. M., Lin, W. L., Sanchez-Contreras, M., Carlomagno, Y., Pedraza, O. D., Rademakers, R. V., Ross, O. A., Wszolek, Z. K. & Dickson, D. W., 2015, In : Journal of Neuropathology and Experimental Neurology. 74, 11, p. 1042-1052 11 p.

Research output: Contribution to journalArticle

13 Scopus citations

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome

Johnston, J. J., Sanchez-Contreras, M. Y., Keppler-Noreuil, K. M., Sapp, J., Crenshaw, M., Finch, N. C. A., Cormier-Daire, V., Rademakers, R., Sybert, V. P. & Biesecker, L. G., Sep 3 2015, In : American journal of human genetics. 97, 3, p. 465-474 10 p., 1921.

Research output: Contribution to journalArticle

34 Scopus citations

Apolipoprotein E is a ligand for triggering receptor expressed on myeloid cells 2 (TREM2)

Atagi, Y., Liu, C-C., Painter, M. M., Chen, X. F., Verbeeck, C., Zheng, H., Li, X., Rademakers, R. V., Kang, S., Xu, H., Younkin, S. G., Das, P., Fryer, J. D. & Bu, G. D., Oct 23 2015, In : Journal of Biological Chemistry. 290, 43, p. 26043-26050 8 p.

Research output: Contribution to journalArticle

163 Scopus citations

A truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degeneration

Nakamura, M., Bieniek, K. F., Lin, W. L., Graff-Radford, N. R., Murray, M. E., Castanedes-Casey, M., Desaro, P., Baker, M. C., Rutherford, N. J., Robertson, J., Rademakers, R., Dickson, D. W. & Boylan, K. B., Jul 17 2015, In : Acta neuropathologica. 130, 1, p. 145-157 13 p.

Research output: Contribution to journalArticle

10 Scopus citations

Brain atrophy over time in genetic and sporadic frontotemporal dementia: A study of 198 serial magnetic resonance images

Whitwell, J. L., Boeve, B. F., Weigand, S. D., Senjem, M. L., Gunter, J. L., Baker, M. C., Dejesus-Hernandez, M., Knopman, D. S., Wszolek, Z. K., Petersen, R. C., Rademakers, R. V., Jack, C. R. J. & Josephs, K. A., May 1 2015, In : European Journal of Neurology. 22, 5, p. 745-752 8 p.

Research output: Contribution to journalArticle

58 Scopus citations

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

C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits

Chew, J., Gendron, T. D., Prudencio, M., Sasaguri, H., Zhang, Y., Castanedes-Casey, M., Lee, C. W., Jansen-West, K., Kurti, A., Murray, M. E., Bieniek, K. F., Bauer, P. O., Whitelaw, E. C., Rousseau, L., Stankowski, J. N., Stetler, C., Daughrity, L. M., Perkerson, E. A., Desaro, P., Johnston, A. & 7 others, Overstreet, K., Edbauer, D., Rademakers, R. V., Boylan, K. B., Dickson, D. W., Fryer, J. D. & Petrucelli, L., Jun 5 2015, In : Science. 348, 6239, p. 1151-1154 4 p.

Research output: Contribution to journalArticle

185 Scopus citations

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

Gendron, T. F., van Blitterswijk, M., Bieniek, K. F., Daughrity, L. M., Jiang, J., Rush, B. K., Pedraza, O., Lucas, J. A., Murray, M. E., Desaro, P., Robertson, A., Overstreet, K., Thomas, C. S., Crook, J. E., 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., 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

52 Scopus citations

Chronic traumatic encephalopathy pathology in a neurodegenerative disorders brain bank

Bieniek, K. F., Ross, O. A., Cormier, K. A., Walton, R. L., Soto-Ortolaza, A., Johnston, A. E., DeSaro, P., Boylan, K. B., Graff-Radford, N. R., Wszolek, Z. K., Rademakers, R., Boeve, B. F., McKee, A. C. & Dickson, D. W., Dec 1 2015, In : Acta neuropathologica. 130, 6, p. 877-889 13 p.

Research output: Contribution to journalArticle

115 Scopus citations

Clinical and neuroimaging biomarkers of amyloid-negative logopenic primary progressive aphasia

Whitwell, J. L., Duffy, J. R., Strand, E. A., Machulda, M. M., Senjem, M. L., Schwarz, C., Reid, R., Baker, M. C., Perkerson, R. B., Lowe, V., Rademakers, R. V., Jack, C. R. J. & Josephs, K. A., Mar 1 2015, In : Brain and Language. 142, p. 45-53 9 p.

Research output: Contribution to journalArticle

26 Scopus citations

Diffuse leukoencephalopathy with spheroids presenting as primary progressive aphasia

Oboudiyat, C., Bigio, E. H., Bonakdarpour, B., Baker, M. C., Rademakers, R. V., Weintraub, S. & Mesulam, M. M., Aug 18 2015, In : Neurology. 85, 7, p. 652-653 2 p.

Research output: Contribution to journalArticle

6 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

153 Scopus citations

Dominant frontotemporal dementia mutations in 140 cases of primary progressive aphasia and speech apraxia

Flanagan, E. P., Baker, M. C., Perkerson, R. B., Duffy, J. R., Strand, E. A., Whitwell, J. L., MacHulda, M. M., Rademakers, R. & Josephs, K. A., May 28 2015, In : Dementia and geriatric cognitive disorders. 39, 5-6, p. 281-286 6 p.

Research output: Contribution to journalArticle

17 Scopus citations

Frontotemporal dementia: A bridge between dementia and neuromuscular disease

Ng, A. S. L., Rademakers, R. & Miller, B. L., Mar 1 2015, In : Annals of the New York Academy of Sciences. 1338, 1, p. 71-93 23 p.

Research output: Contribution to journalArticle

70 Scopus citations

Frontotemporal dementia-associated N279K tau mutant disrupts subcellular vesicle trafficking and induces cellular stress in iPSC-derived neural stem cells

Wren, M. C., Zhao, J., Liu, C. C., Murray, M. E., Atagi, Y., Davis, M. D., Fu, Y., Okano, H. J., Ogaki, K., Strongosky, A. J., Tacik, P., Rademakers, R., Ross, O. A., Dickson, D. W., Wszolek, Z. K., Kanekiyo, T. & Bu, G., Sep 15 2015, In : Molecular neurodegeneration. 10, 1, 42.

Research output: Contribution to journalArticle

30 Scopus citations

Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy

Kouri, N., Ross, O. A., Dombroski, B., Younkin, C. S., Serie, D. J., Soto-Ortolaza, A., Baker, M., Finch, N. C. A., Yoon, H., Kim, J., Fujioka, S., Mclean, C. A., Ghetti, B., Spina, S., Cantwell, L. B., Farlow, M. R., Grafman, J., Huey, E. D., Ryung Han, M., Beecher, S. & 34 others, Geller, E. T., Kretzschmar, H. A., Roeber, S., Gearing, M., Juncos, J. L., Vonsattel, J. P. G., Van Deerlin, V. M., Grossman, M., Hurtig, H. I., Gross, R. G., Arnold, S. E., Trojanowski, J. Q., Lee, V. M., Wenning, G. K., White, C. L., Höglinger, G. U., Müller, U., Devlin, B., Golbe, L. I., Crook, J., Parisi, J. E., Boeve, B. F., Josephs, K. A., Wszolek, Z. K., Uitti, R. J., Graff-Radford, N. R., Litvan, I., Younkin, S. G., Wang, L. S., Ertekin-Taner, N., Rademakers, R., Hakonarsen, H., Schellenberg, G. D. & Dickson, D. W., Jun 16 2015, In : Nature communications. 6, 7247.

Research output: Contribution to journalArticle

84 Scopus citations

Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis

Sundal, C., Baker, M., Karrenbauer, V., Gustavsen, M., Bedri, S., Glaser, A., Myhr, K. M., Haugarvoll, K., Zetterberg, H., Harbo, H., Kockum, I., Hillert, J., Wszolek, Z., Rademakers, R. & Andersen, O., Feb 1 2015, In : European Journal of Neurology. 22, 2, p. 328-333 6 p.

Research output: Contribution to journalArticle

24 Scopus citations

Hippocampal sclerosis in Lewy body disease is a TDP-43 proteinopathy similar to FTLD-TDP Type A

Aoki, N., Murray, M. E., Ogaki, K., Fujioka, S., Rutherford, N. J., Rademakers, R. V., Ross, O. A. & Dickson, D. W., Jan 1 2015, In : Acta Neuropathologica. 129, 1, p. 53-64 12 p.

Research output: Contribution to journalArticle

35 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. F., 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., Dec 1 2015, In : Acta neuropathologica. 130, 6, p. 863-876 14 p.

Research output: Contribution to journalArticle

47 Scopus citations

Pathologic staging of white matter lesions in adult-onset leukoencephalopathy/leukodystrophy with axonal spheroids

Alturkustani, M., Keith, J., Hazrati, L. N., Rademakers, R. & Ang, L. C., Mar 28 2015, In : Journal of Neuropathology and Experimental Neurology. 74, 3, p. 233-240 8 p.

Research output: Contribution to journalArticle

10 Scopus citations

Progressive Supranuclear Palsy in a family with TDP-43 pathology

Kertesz, A., Finger, E., Murrell, J., Chertkow, H., Ang, L. C., Baker, M., Ravenscroft, T., Rademakers, R. & Munoz, D. G., Mar 4 2015, In : Neurocase. 21, 2, p. 178-184 7 p.

Research output: Contribution to journalArticle

5 Scopus citations

Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies

Labbé, C., Ogaki, K., Lorenzo-Betancor, O., Soto-Ortolaza, A. I., Walton, R. L., Rayaprolu, S., Fujioka, S., Murray, M. E., Heckman, M. G., Puschmann, A., McCarthy, A., Lynch, T., Siuda, J., Opala, G., Rudzinska, M., Krygowska-Wajs, A., Barcikowska, M., Czyzewski, K., Sanotsky, Y., Rektorová, I. & 16 others, McLean, P. J., Rademakers, R. V., Taner, N., Hassan, A., Ahlskog, J. E., Boeve, B. F., Petersen, R. C., Maraganore, D. M., Adler, C. H., Ferman, T. J., Parisi, J. E., Graff Radford, N. R., Uitti, R. J., Wszolek, Z. K., Dickson, D. W. & Ross, O. A., Nov 10 2015, In : Neurology. 85, 19, p. 1680-1686 7 p.

Research output: Contribution to journalArticle

19 Scopus citations

The TMEM106B locus and TDP-43 pathology in older persons without FTLD (Neurology Neurology (2015) 84: 927-934)

Dickson, D. W., Rademakers, R. V. & Nicholson, A. M., Oct 13 2015, In : Neurology. 85, 15, p. 1354-1355 2 p.

Research output: Contribution to journalArticle

7 Scopus citations

Three sib-pairs of autopsy-confirmed progressive supranuclear palsy

Fujioka, S., Sanchez Contreras, M. Y., Strongosky, A. J., Ogaki, K., Whaley, N. R., Tacik, P. M., van Gerpen, J. A., Uitti, R. J., Ross, O. A., Wszolek, Z. K., Rademakers, R. & Dickson, D. W., Feb 1 2015, In : Parkinsonism and Related Disorders. 21, 2, p. 101-105 5 p.

Research output: Contribution to journalArticle

12 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., Jul 17 2015, In : Acta neuropathologica. 130, 1, p. 77-92 16 p.

Research output: Contribution to journalArticle

157 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., 2014, In : Journal of medical genetics. 51, 6, p. 419-424 6 p.

Research output: Contribution to journalArticle

69 Scopus citations

Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration

Bit-Ivan, E. N., Lee, K. H., Gitelman, D., Weintraub, S., Mesulam, M., Rademakers, R., Isaacs, A. M., Hatanpaa, K. J., White, C. L., Mao, Q., Akman, O., Dimauro, S. & Bigio, E. H., Oct 1 2014, In : Neuropathology and Applied Neurobiology. 40, 6, p. 778-782 5 p.

Research output: Contribution to journalArticle

4 Scopus citations

A familial form of parkinsonism, dementia, and motor neuron disease: A longitudinal study

Fujioka, S., Boeve, B. F., Parisi, J. E., Tacik, P., Aoki, N., Strongosky, A. J., Baker, M., Sanchez-Contreras, M., Ross, O. A., Rademakers, R., Sossi, V., Dickson, D. W., Stoessl, A. J. & Wszolek, Z. K., Nov 1 2014, In : Parkinsonism and Related Disorders. 20, 11, p. 1129-1134 6 p.

Research output: Contribution to journalArticle

5 Scopus citations

Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress

Zhang, Y. J., Jansen-West, K., Xu, Y. F., Gendron, T. F., Bieniek, K. F., Lin, W. L., Sasaguri, H., Caulfield, T., Hubbard, J., Daughrity, L., Chew, J., Belzil, V. V., Prudencio, M., Stankowski, J. N., Castanedes-Casey, M., Whitelaw, E., Ash, P. E. A., DeTure, M., Rademakers, R., Boylan, K. B. & 2 others, Dickson, D. W. & Petrucelli, L., Jan 1 2014, In : Acta neuropathologica. 128, 4, p. 505-524 20 p.

Research output: Contribution to journalArticle

159 Scopus citations

Agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with P301L MAPT mutation: dysexecutive, aphasic, apraxic or spatial phenomenon?

Sitek, E. J., Narozanska, E., Barczak, A., Jasinska-Myga, B., Harciarek, M., Chodakowska-Zebrowska, M., Kubiak, M., Wieczorek, D., Konieczna, S., Rademakers, R., Baker, M., Berdynski, M., Brockhuis, B., Barcikowska, M., Zekanowski, C., Heilman, K. M., Wszolek, Z. K. & Slawek, J., Jan 1 2014, In : Neurocase. 20, 1, p. 69-86 18 p.

Research output: Contribution to journalArticle

9 Scopus citations