• 28319 Citations
  • 81 Scopus h-Index
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Article
2013

TREM2 variants in Alzheimer's disease

Guerreiro, R., Wojtas, A., Bras, J., Carrasquillo, M., Rogaeva, E., Majounie, E., Cruchaga, C., Sassi, C., Kauwe, J. S. K., Younkin, S., Hazrati, L., Collinge, J., Pocock, J., Lashley, T., Williams, J., Lambert, J. C., Amouyel, P., Goate, A., Rademakers, R., Morgan, K. & 4 others, Powell, J., George-Hyslop, P. S., Singleton, A. & Hardy, J., Jan 10 2013, In : New England Journal of Medicine. 368, 2, p. 117-127 11 p.

Research output: Contribution to journalArticle

1306 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

580 Scopus citations
2012

An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathology

Wider, C., Ross, O. A., Nishioka, K., Heckman, M. G., Vilariño-Güell, C., Jasinska-Myga, B., Erketin-Taner, N., Rademakers, R., Graff-Radford, N. R., Mash, D. C., Papapetropoulos, S., Duara, R., Uchikado, H., Wszolek, Z. K., Farrer, M. J. & Dickson, D. W., Apr 1 2012, In : Journal of Neurology, Neurosurgery and Psychiatry. 83, 4, p. 424-429 6 p.

Research output: Contribution to journalArticle

42 Scopus citations

Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion

Khan, B. K., Yokoyama, J. S., Takada, L. T., Sha, S. J., Rutherford, N. J., Fong, J. C., Karydas, A. M., Wu, T., Ketelle, R. S., Baker, M. C., Hernandez, M. D., Coppola, G., Geschwind, D. H., Rademakers, R., Lee, S. E., Rosen, H. J., Rabinovici, G. D., Seeley, W. W., Rankin, K. P., Boxer, A. L. & 1 others, Miller, B. L., Apr 2012, In : Journal of Neurology, Neurosurgery and Psychiatry. 83, 4, p. 358-364 7 p.

Research output: Contribution to journalArticle

124 Scopus citations

C9ORF72 Hexanucleotide repeat expansions in patients with als from the coriell cell repository

Rutherford, N. J., DeJesus-Hernandez, M., Baker, M. C., Kryston, T. B., Brown, P. E., Lomen-Hoerth, C., Boylan, K., Wszolek, Z. K. & Rademakers, R., Jul 31 2012, In : Neurology. 79, 5, p. 482-483 2 p.

Research output: Contribution to journalArticle

12 Scopus citations

C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic

Wojtas, A., Heggeli, K. A., Finch, N. C., Baker, M., DeJesus-Hernandez, M., Younkin, S. G., Dickson, D. W., Graff Radford, N. R. & Rademakers, R. V., 2012, In : American Journal of Neurodegenerative Diseases. 1, 1, p. 107-118 12 p.

Research output: Contribution to journalArticle

43 Scopus citations
17 Scopus citations
233 Scopus citations

Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p

Stewart, H., Rutherford, N. J., Briemberg, H., Krieger, C., Cashman, N., Fabros, M., Baker, M., Fok, A., DeJesus-Hernandez, M., Eisen, A., Rademakers, R. & Mackenzie, I. R. A., Mar 1 2012, In : Acta neuropathologica. 123, 3, p. 409-417 9 p.

Research output: Contribution to journalArticle

116 Scopus citations

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p

Hsiung, G. Y. R., Dejesus-Hernandez, M., Feldman, H. H., Sengdy, P., Bouchard-Kerr, P., Dwosh, E., Butler, R., Leung, B., Fok, A., Rutherford, N. J., Baker, M., Rademakers, R. & Mackenzie, I. R. A., Mar 2012, In : Brain. 135, 3, p. 709-722 14 p.

Research output: Contribution to journalArticle

139 Scopus citations

Clinical characterization of bvFTD due to FUS neuropathology

Lee, S. E., Seeley, W. W., Poorzand, P., Rademakers, R., Karydas, A., Stanley, C. M., Miller, B. L. & Rankin, K. P., Aug 1 2012, In : Neurocase. 18, 4, p. 305-317 13 p.

Research output: Contribution to journalArticle

16 Scopus citations

Co-aggregation of RNA binding proteins in ALS spinal motor neurons: Evidence of a common pathogenic mechanism

Keller, B. A., Volkening, K., Droppelmann, C. A., Ang, L. C., Rademakers, R. & Strong, M. J., Nov 1 2012, In : Acta neuropathologica. 124, 5, p. 733-747 15 p.

Research output: Contribution to journalArticle

74 Scopus citations

Evidence for a role of the rare p.A152T variant in mapt in increasing the risk for FTD-spectrum and Alzheimer's diseases

Coppola, G., Chinnathambi, S., Lee, J. J. Y., Dombroski, B. A., Baker, M. C., Soto-ortolaza, A. I., Lee, S. E., Klein, E., Huang, A. Y., Sears, R., Lane, J. R., Karydas, A. M., Kenet, R. O., Biernat, J., Wang, L. S., Cotman, C. W., Decarli, C. S., Levey, A. I., Ringman, J. M., Mendez, M. F. & 210 others, Chui, H. C., Le ber, I., Brice, A., Lupton, M. K., Preza, E., Lovestone, S., Powell, J., Graff-radford, N., Petersen, R. C., Boeve, B. F., Lippa, C. F., Bigio, E. H., Mackenzie, I., Finger, E., Kertesz, A., Caselli, R. J., Gearing, M., Juncos, J. L., Ghetti, B., Spina, S., Bordelon, Y. M., Tourtellotte, W. W., Frosch, M. P., Vonsattel, J. P. G., Zarow, C., Beach, T. G., Albin, R. L., Lieberman, A. P., Lee, V. M., Trojanowski, J. Q., Van deerlin, V. M., Bird, T. D., Galasko, D. R., Masliah, E., White, C. L., Troncoso, J. C., Hannequin, D., Boxer, A. L., Geschwind, M. D., Kumar, S., Mandelkow, E. M., Wszolek, Z. K., Uitti, R. J., Dickson, D. W., Haines, J. L., Mayeux, R., Pericak-vance, M. A., Farrer, L. A., Apostolova, L. G., Arnold, S. E., Baldwin, C. T., Barber, R., Barmada, M. M., Beach, T., Beecham, G. W., Beekly, D., Bennett, D. A., Bigio, E. H., Bird, T. D., Blacker, D., Boeve, B. F., Bowen, J. D., Boxer, A., Burke, J. R., Buros, J., Buxbaum, J. D., Cairns, N. J., Cantwell, L. B., Cao, C., Carlson, C. S., Carney, R. M., Carrasquillo, M. M., Carroll, S. L., Chui, H. C., Clark, D. G., Corneveaux, J., Cotman, C. W., Crane, P. K., Cruchaga, C., Cummings, J. L., De Jager, P. L., DeCarli, C., DeKosky, S. T., Demirci, F. Y., Diaz-Arrastia, R., Dick, M., Dickson, D. W., Dombroski, B. A., Duara, R., Ellis, W. G., Ertekin-Taner, N. N., Evans, D., Faber, K. M., Fallon, K. B., Farlow, M. R., Ferris, S., Foroud, T. M., Frosch, M. P., Galasko, D. R., Gallins, P. J., Ganguli, M., Gearing, M., Geschwind, D. H., Ghetti, B., Gilbert, J. R., Gilman, S., Giordani, B., Glass, J. D., Goate, A. M., Graff-Radford, N. R., Green, R. C., Growdon, J. H., Hakonarson, H., Hamilton, R. L., Hardy, J., Harrell, L. E., Head, E., Honig, L. S., Huentelman, M. J., Hulette, C. M., Hyman, B. T., Jarvik, G. P., Jicha, G. A., Jin, L. W., Johnson, N., Jun, G., Kamboh, M. I., Karlawish, J., Karydas, A., Kauwe, J. S. K., Kaye, J. A., Kim, R., Koo, E. H., Kowall, N. W., Kramer, P., Kukull, W. A., Lah, J. J., Larson, E. B., Levey, A. I., Lieberman, A. P., Lopez, O. L., Lunetta, K. L., Mack, W. J., Marson, D. C., Martin, E. R., Martiniuk, F., Mash, D. C., Masliah, E., McCormick, W. C., McCurry, S. M., McDavid, A. N., McKee, A. C., Mesulam, M., Miller, B. L., Miller, C. A., Miller, J. W., Montine, T. J., Morris, J. C., Myers, A. J., Naj, A. C., Nowotny, P., Parisi, J. E., Perl, D. P., Peskind, E., Petersen, R. C., Poon, W. W., Potter, H., Quinn, J. F., Raj, A., Rajbhandary, R. A., Raskind, M., Reiman, E. M., Reisberg, B., Reitz, C., Ringman, J. M., Roberson, E. D., Rogaeva, E., Rosenberg, R. N., Sano, M., Saykin, A. J., Schneider, J. A., Schneider, L. S., Seeley, W., Shelanski, M. L., Slifer, M. A., Smith, C. D., Sonnen, J. A., Spina, S., George-Hyslop, P. S., Stern, R. A., Tanzi, R. E., Trojanowski, J. Q., Troncoso, J. C., Tsuang, D. W., Van Deerlin, V. M., Vardarajan, B. N., Vinters, H. V., Vonsattel, J. P., Wang, L. S., Weintraub, S., Welsh-Bohmer, K. A., Williamson, J., Woltjer, R. L., Younkin, S. G., Ross, O. A., Rademakers, R., Schellenberg, G. D., Miller, B. L., Mandelkow, E. & Geschwind, D. H., Aug 2012, In : Human molecular genetics. 21, 15, p. 3500-3512 13 p.

Research output: Contribution to journalArticle

142 Scopus citations

Expression of Fused in sarcoma mutations in mice recapitulates the neuropathology of FUS proteinopathies and provides insight into disease pathogenesis

Verbeeck, C., Deng, Q., Dejesus-Hernandez, M., Taylor, G., Ceballos-Diaz, C., Kocerha, J., Golde, T., Das, P., Rademakers, R., Dickson, D. W. & Kukar, T., Oct 12 2012, In : Molecular neurodegeneration. 7, 1, 53.

Research output: Contribution to journalArticle

46 Scopus citations

Frontotemporal dementia due To C9ORF72 mutations clinical and imaging features

Sha, S. J., Takada, L. T., Rankin, K. P., Yokoyama, J. S., Rutherford, N. J., Fong, J. C., Khan, B., Karydas, A., Baker, M. C., De Jesus-Hernandez, M., Pribadi, M., Coppola, G., Geschwind, D. H., Rademakers, R., Lee, S. E., Seeley, W., Miller, B. L. & Boxer, A. L., Sep 4 2012, In : Neurology. 79, 10, p. 1002-1011 10 p.

Research output: Contribution to journalArticle

117 Scopus citations

Frontotemporal dementia in a Brazilian kindred with the C9orf72 mutation

Takada, L. T., Pimentel, M. L. V., DeJesus-Hernandez, M., Fong, J. C., Yokoyama, J. S., Karydas, A., Thibodeau, M. P., Rutherford, N. J., Baker, M. C., Lomen-Hoerth, C., Rademakers, R. & Miller, B. L., Sep 1 2012, In : Archives of neurology. 69, 9, p. 1149-1153 5 p.

Research output: Contribution to journalArticle

27 Scopus citations

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): A misdiagnosed disease entity

Sundal, C., Lash, J., Aasly, J., Øygarden, S., Roeber, S., Kretzschman, H., Garbern, J. Y., Tselis, A., Rademakers, R., Dickson, D. W., Broderick, D. & Wszolek, Z. K., Mar 15 2012, In : Journal of the neurological sciences. 314, 1-2, p. 130-137 8 p.

Research output: Contribution to journalArticle

54 Scopus citations

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

Rutherford, N. J., Heckman, M. G., DeJesus-Hernandez, M., Baker, M. C., Soto-Ortolaza, A. I., Rayaprolu, S., Stewart, H., Finger, E., Volkening, K., Seeley, W. W., Hatanpaa, K. J., Lomen-Hoerth, C., Kertesz, A., Bigio, E. H., Lippa, C., Knopman, D. S., Kretzschmar, H. A., Neumann, M., Caselli, R. J., White, C. L. & 12 others, Mackenzie, I. R., Petersen, R. C., Strong, M. J., Miller, B. L., Boeve, B. F., Uitti, R. J., Boylan, K. B., Wszolek, Z. K., Graff-Radford, N. R., Dickson, D. W., Ross, O. A. & Rademakers, R., Dec 2012, In : Neurobiology of aging. 33, 12, p. 2950.e5-2950.e7

Research output: Contribution to journalArticle

66 Scopus citations

Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor

Prudencio, M., Jansen-West, K. R., Lee, W. C., Gendron, T. F., Zhang, Y. J., Xu, Y. F., Gass, J., Stuani, C., Stetler, C., Rademakers, R., Dickson, D. W., Buratti, E. & Petrucelli, L., Dec 26 2012, In : Proceedings of the National Academy of Sciences of the United States of America. 109, 52, p. 21510-21515 6 p.

Research output: Contribution to journalArticle

40 Scopus citations

MRI characteristics and scoring in HDLS due to CSF1R gene mutations

Sundal, C., Van Gerpen, J. A., Nicholson, A. M., Wider, C., Shuster, E. A., Aasly, J., Spina, S., Ghetti, B., Roeber, S., Garbern, J., Borjesson-Hanson, A., Tselis, A., Swerdlow, R. H., Miller, B. B., Fujioka, S., Heckman, M. G., Uitti, R. J., Josephs, K. A., Baker, M., Andersen, O. & 4 others, Rademakers, R., Dickson, D. W., Broderick, D. & Wszolek, Z. K., Aug 7 2012, In : Neurology. 79, 6, p. 566-574 9 p.

Research output: Contribution to journalArticle

58 Scopus citations

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

Rademakers, R., Baker, M., Nicholson, A. M., Rutherford, N. J., Finch, N., Soto-Ortolaza, A., Lash, J., Wider, C., Wojtas, A., Dejesus-Hernandez, M., Adamson, J., Kouri, N., Sundal, C., Shuster, E. A., Aasly, J., MacKenzie, J., Roeber, S., Kretzschmar, H. A., Boeve, B. F., Knopman, D. S. & 18 others, Petersen, R. C., Cairns, N. J., Ghetti, B., Spina, S., Garbern, J., Tselis, A. C., Uitti, R., Das, P., Van Gerpen, J. A., Meschia, J. F., Levy, S., Broderick, D. F., Graff-Radford, N., Ross, O. A., Miller, B. B., Swerdlow, R. H., Dickson, D. W. & Wszolek, Z. K., Feb 1 2012, In : Nature Genetics. 44, 2, p. 200-205 6 p.

Research output: Contribution to journalArticle

286 Scopus citations

Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics

Whitwell, J. L., Weigand, S. D., Boeve, B. F., Senjem, M. L., Gunter, J. L., Dejesus-Hernandez, M., Rutherford, N. J., Baker, M., Knopman, D. S., Wszolek, Z. K., Parisi, J. E., Dickson, D. W., Petersen, R. C., Rademakers, R., Jack, C. R. & Josephs, K. A., Mar 2012, In : Brain. 135, 3, p. 794-806 13 p.

Research output: Contribution to journalArticle

260 Scopus citations

Pathogenicity of exonic indels in fused in sarcoma in amyotrophic lateral sclerosis

Rutherford, N. J., Finch, N. A., DeJesus-Hernandez, M., Crook, R. J. P., Lomen-Hoerth, C., Wszolek, Z. K., Uitti, R. J., Graff-Radford, N. R. & Rademakers, R., Feb 2012, In : Neurobiology of aging. 33, 2, p. 424.e23-424.e24

Research output: Contribution to journalArticle

5 Scopus citations

Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: A case control study

Potts, L. F., Cambon, A. C., Ross, O. A., Rademakers, R., Dickson, D. W., Uitti, R. J., Wszolek, Z. K., Rai, S. N., Farrer, M. J., Hein, D. W. & Litvan, I., Mar 17 2012, In : BMC medical genetics. 13, 16.

Research output: Contribution to journalArticle

3 Scopus citations

Progranulin regulates neuronal outgrowth independent of Sortilin

Gass, J., Lee, W. C., Cook, C., Finch, N., Stetler, C., Jansen-West, K., Lewis, J., Link, C. D., Rademakers, R., Nykjær, A. & Petrucelli, L., Jul 12 2012, In : Molecular neurodegeneration. 7, 1, 33.

Research output: Contribution to journalArticle

78 Scopus citations

Similar clinical and neuroimaging features in monozygotic twin pair with mutation in progranulin

McDade, E., Boeve, B. F., Burrus, T. M., Boot, B. P., Kantarci, K., Fields, J., Lowe, V. J., Peller, P., Knopman, D., Baker, M., Finch, N., Rademakers, R. & Petersen, R., Apr 17 2012, In : Neurology. 78, 16, p. 1245-1249 5 p.

Research output: Contribution to journalArticle

10 Scopus citations

The chromosome 9 ALS and FTD locus is probably derived from a single founder

Mok, K., Traynor, B. J., Schymick, J., Tienari, P. J., Laaksovirta, H., Peuralinna, T., Myllykangas, L., Chiò, A., Shatunov, A., Boeve, B. F., Boxer, A. L., DeJesus-Hernandez, M., Mackenzie, I. R., Waite, A., Williams, N., Morris, H. R., Simón-Sánchez, J., van Swieten, J. C., Heutink, P., Restagno, G. & 10 others, Mora, G., Morrison, K. E., Shaw, P. J., Rollinson, P. S., Al-Chalabi, A., Rademakers, R., Pickering-Brown, S., Orrell, R. W., Nalls, M. A. & Hardy, J., Jan 2012, In : Neurobiology of aging. 33, 1, p. 209.e3-209.e8

Research output: Contribution to journalArticle

88 Scopus citations
2011

Altered functional connectivity in asymptomatic MAPT subjects A comparison to bvFTD

Whitwell, J. L., Josephs, K. A., Avula, R., Tosakulwong, N., Weigand, S. D., Senjem, M. L., Vemuri, P., Jones, D. T., Gunter, J. L., Baker, M., Wszolek, Z. K., Knopman, D. S., Rademakers, R., Petersen, R. C., Boeve, B. F. & Jack, C. R., Aug 30 2011, In : Neurology. 77, 9, p. 866-874 9 p.

Research output: Contribution to journalArticle

88 Scopus citations

Altered microRNA expression in frontotemporal lobar degeneration with TDP-43 pathology caused by progranulin mutations

Kocerha, J., Kouri, N., Baker, M., Finch, N. C., DeJesus-Hernandez, M., Gonzalez, J., Chidamparam, K., Josephs, K. A., Boeve, B. F., Graff-Radford, N. R., Crook, J., Dickson, D. W. & Rademakers, R., Oct 27 2011, In : BMC genomics. 12, 527.

Research output: Contribution to journalArticle

32 Scopus citations

Ataxin-2 repeat-length variation and neurodegeneration

Ross, O. A., Rutherford, N. J., Baker, M., Soto-Ortolaza, A. I., Carrasquillo, M. M., DeJesus-Hernandez, M., Adamson, J., Li, M., Volkening, K., Finger, E., Seeley, W. W., Hatanpaa, K. J., Lomen-Hoerth, C., Kertesz, A., Bigio, E. H., Lippa, C., Woodruff, B. K., Knopman, D. S., White, C. L., Van Gerpen, J. A. & 13 others, Meschia, J. F., Mackenzie, I. R., Boylan, K., Boeve, B. F., Miller, B. L., Strong, M. J., Uitti, R. J., Younkin, S. G., Graff-Radford, N. R., Petersen, R. C., Wszolek, Z. K., Dickson, D. W. & Rademakers, R., Aug 2011, In : Human molecular genetics. 20, 16, p. 3207-3212 6 p.

Research output: Contribution to journalArticle

115 Scopus citations

A yeast functional screen predicts new candidate ALS disease genes

Couthouisa, J., Harta, M. P., Shorter, J., DeJesus-Hernandez, M., Erion, R., Oristano, R., Liu, A. X., Ramos, D., Jethava, N., Hosangadi, D., Epstein, J., Chiang, A., Diaz, Z., Nakaya, T., Ibrahim, F., Kim, H. J., Solski, J. A., Williams, K. L., Mojsilovic-Petrovic, J., Ingre, C. & 21 others, Boylan, K., Graff-Radford, N. R., Dickson, D. W., Clay-Falcone, D., Elman, L., McCluskey, L., Greene, R., Kalb, R. G., Lee, V. M. Y., Trojanowski, J. Q., Ludolph, A., Robberecht, W., Andersen, P. M., Nicholson, G. A., Blair, I. P., King, O. D., Bonini, N. M., Van, V. D., Rademakers, R., Mourelatos, Z. & Gitler, A. D., Dec 27 2011, In : Proceedings of the National Academy of Sciences of the United States of America. 108, 52, p. 20881-20890 10 p.

Research output: Contribution to journalArticle

242 Scopus citations

Cerebrovascular risk factors and preclinical memory decline in healthy APOE ε4 homozygotes

Caselli, R. J., Dueck, A. C., Locke, D. E. C., Sabbagh, M. N., Ahern, G. L., Rapcsak, S. Z., Baxter, L. C., Yaari, R., Woodruff, B. K., Hoffman-Snyder, C., Rademakers, R., Findley, S. & Reiman, E. M., Mar 22 2011, In : Neurology. 76, 12, p. 1078-1084 7 p.

Research output: Contribution to journalArticle

47 Scopus citations

Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family

Boxer, A. L., Mackenzie, I. R., Boeve, B. F., Baker, M., Seeley, W. W., Crook, R., Feldman, H., Hsiung, G. Y. R., Rutherford, N., Laluz, V., Whitwell, J., Foti, D., McDade, E., Molano, J., Karydas, A., Wojtas, A., Goldman, J., Mirsky, J., Sengdy, P., DeArmond, S. & 2 others, Miller, B. L. & Rademakers, R., Feb 1 2011, In : Journal of Neurology, Neurosurgery and Psychiatry. 82, 2, p. 196-203 8 p.

Research output: Contribution to journalArticle

145 Scopus citations

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

Murray, M. E., Dejesus-Hernandez, M., Rutherford, N. J., Baker, M., Duara, R., Graff-Radford, N. R., Wszolek, Z. K., Ferman, T. J., Josephs, K. A., Boylan, K. B., Rademakers, R. & Dickson, D. W., Dec 1 2011, In : Acta neuropathologica. 122, 6, p. 673-690 18 p.

Research output: Contribution to journalArticle

214 Scopus citations

Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein gene

Kumar, N., Boeve, B. F., Boot, B. P., Orr, C. F., Duffy, J., Woodruff, B. K., Nair, A. K., Ellison, J., Kuntz, K., Kantarci, K., Jack, C. R., Westmoreland, B. F., Fields, J. A., Baker, M., Rademakers, R., Parisi, J. E. & Dickson, D. W., Sep 1 2011, In : Archives of neurology. 68, 9, p. 1165-1170 6 p.

Research output: Contribution to journalArticle

17 Scopus citations

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., Nicholson, A. M., Finch, N. C. A., Flynn, H., Adamson, J., Kouri, N., Wojtas, A., Sengdy, P., Hsiung, G. Y. R., Karydas, A., Seeley, W. W., Josephs, K. A., Coppola, G., Geschwind, D. H., Wszolek, Z. K. & 8 others, Feldman, H., Knopman, D. S., Petersen, R. C., Miller, B. L., Dickson, D. W., Boylan, K. B., Graff-Radford, N. R. & Rademakers, R., Oct 20 2011, In : Neuron. 72, 2, p. 245-256 12 p.

Research output: Contribution to journalArticle

2542 Scopus citations

FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations

Neumann, M., Bentmann, E., Dormann, D., Jawaid, A., Dejesus-Hernandez, M., Ansorge, O., Roeber, S., Kretzschmar, H. A., Munoz, D. G., Kusaka, H., Yokota, O., Ang, L. C., Bilbao, J., Rademakers, R., Haass, C. & MacKenzie, I. R. A., Sep 2011, In : Brain. 134, 9, p. 2595-2609 15 p.

Research output: Contribution to journalArticle

169 Scopus citations

Frontotemporal dementia and parkinsonism linked to chromosome 17 - the first Polish family

Narozdańska, E., Jasinska-Myga, B., Sitek, E. J., Robowski, P., Brockhuis, B., Lass, P., Dubaniewicz, M., Wieczorek, D., Baker, M., Rademakers, R., Wszolek, Z. K. & Sławek, J., Mar 1 2011, In : European Journal of Neurology. 18, 3, p. 535-537 3 p.

Research output: Contribution to journalArticle

11 Scopus citations

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration

Chen-Plotkin, A. S., Martinez-Lage, M., Sleiman, P. M. A., Hu, W., Greene, R., Wood, E. M. C., Bing, S., Grossman, M., Schellenberg, G. D., Hatanpaa, K. J., Weiner, M. F., White, C. L., Brooks, W. S., Halliday, G. M., Kril, J. J., Gearing, M., Beach, T. G., Graff-Radford, N. R., Dickson, D. W., Rademakers, R. & 35 others, Boeve, B. F., Pickering-Brown, S. M., Snowden, J., Van Swieten, J. C., Heutink, P., Seelaar, H., Murrell, J. R., Ghetti, B., Spina, S., Grafman, J., Kaye, J. A., Woltjer, R. L., Mesulam, M., Bigio, E., Lladó, A., Miller, B. L., Alzualde, A., Moreno, F., Rohrer, J. D., Mackenzie, I. R. A., Feldman, H. H., Hamilton, R. L., Cruts, M., Engelborghs, S., De Deyn, P. P., Van Broeckhoven, C., Bird, T. D., Cairns, N. J., Goate, A., Frosch, M. P., Riederer, P. F., Bogdanovic, N., Lee, V. M. Y., Trojanowski, J. Q. & Van Deerlin, V. M., Apr 1 2011, In : Archives of neurology. 68, 4, p. 488-497 10 p.

Research output: Contribution to journalArticle

76 Scopus citations
57 Scopus citations

Human genetics as a tool to identify progranulin regulators

Nicholson, A. M., Finch, N. A. & Rademakers, R., Nov 1 2011, In : Journal of Molecular Neuroscience. 45, 3, p. 532-537 6 p.

Research output: Contribution to journalArticle

5 Scopus citations

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

Höglinger, G. U., Melhem, N. M., Dickson, D. W., Sleiman, P. M. A., Wang, L. S., Klei, L., Rademakers, R., De Silva, R., Litvan, I., Riley, D. E., Van Swieten, J. C., Heutink, P., Wszolek, Z. K., Uitti, R. J., Vandrovcova, J., Hurtig, H. I., Gross, R. G., Maetzler, W., Goldwurm, S., Tolosa, E. & 116 others, Borroni, B., Pastor, P., Cantwell, L. B., Han, M. R., Dillman, A., Van Der Brug, M. P., Gibbs, J. R., Cookson, M. R., Hernandez, D. G., Singleton, A. B., Farrer, M. J., Yu, C. E., Golbe, L. I., Revesz, T., Hardy, J., Lees, A. J., Devlin, B., Hakonarson, H., Müller, U., Schellenberg, G. D., Albin, R. L., Alonso, E., Antonini, A., Apfelbacher, M., Arnold, S. E., Avila, J., Beach, T. G., Beecher, S., Berg, D., Bird, T. D., Bogdanovic, N., Boon, A. J. W., Bordelon, Y., Brice, A., Budka, H., Canesi, M., Chiu, W. Z., Cilia, R., Colosimo, C., De Deyn, P. P., De Yebenes, J. G., Kaat, L. D., Duara, R., Durr, A., Engelborghs, S., Fabbrini, G., Finch, N. A., Flook, R., Frosch, M. P., Gaig, C., Galasko, D. R., Gasser, T., Gearing, M., Geller, E. T., Ghetti, B., Graff-Radford, N. R., Grossman, M., Hall, D. A., Hazrati, L. N., Höllerhage, M., Jankovic, J., Juncos, J. L., Karydas, A., Kretzschmar, H. A., Leber, I., Lee, V. M., Lieberman, A. P., Lyons, K. E., Mariani, C., Masliah, E., Massey, L. A., McLean, C. A., Meucci, N., Miller, B. L., Mollenhauer, B., Möller, J. C., Morris, H. R., Morris, C., O'Sullivan, S. S., Oertel, W. H., Ottaviani, D., Padovani, A., Pahwa, R., Pezzoli, G., Pickering-Brown, S., Poewe, W., Rabano, A., Rajput, A., Reich, S. G., Respondek, G., Roeber, S., Rohrer, J. D., Ross, O. A., Rossor, M. N., Sacilotto, G., Seeley, W. W., Seppi, K., Silveira-Moriyama, L., Spina, S., Srulijes, K., St. George-Hyslop, P., Stamelou, M., Standaert, D. G., Tesei, S., Tourtellotte, W. W., Trenkwalder, C., Troakes, C., Trojanowski, J. Q., Troncoso, J. C., Van Deerlin, V. M., Vonsattel, J. P. G., Wenning, G. K., White, C. L., Winter, P., Zarow, C. & Zecchinelli, A. L., Jul 2011, In : Nature Genetics. 43, 7, p. 699-705 7 p.

Research output: Contribution to journalArticle

295 Scopus citations
71 Scopus citations

Novel p.Ile151Val mutation in VCP in A patient of african american descent with sporadic ALS

DeJesus-Hernandez, M., Desaro, P., Johnston, A., Ross, O. A., Wszolek, Z. K., Ertekin-Taner, N., Graff-Radford, N. R., Rademakers, R. & Boylan, K., Sep 13 2011, In : Neurology. 77, 11, p. 1102-1103 2 p.

Research output: Contribution to journalArticle

37 Scopus citations

Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: Two distinct patterns correlating with disease severity and mutation

Mackenzie, I. R. A., Ansorge, O., Strong, M., Bilbao, J., Zinman, L., Ang, L. C., Baker, M., Stewart, H., Eisen, A., Rademakers, R. & Neumann, M., Jul 1 2011, In : Acta neuropathologica. 122, 1, p. 87-98 12 p.

Research output: Contribution to journalArticle

92 Scopus citations

Rs5848 polymorphism and serum progranulin level

Hsiung, G. Y. R., Fok, A., Feldman, H. H., Rademakers, R. & MacKenzie, I. R. A., Jan 15 2011, In : Journal of the neurological sciences. 300, 1-2, p. 28-32 5 p.

Research output: Contribution to journalArticle

51 Scopus citations

Symmetrical corticobasal syndrome caused by a novel c.314dup progranulin mutation

Dopper, E. G. P., Seelaar, H., Chiu, W. Z., De Koning, I., Van Minkelen, R., Baker, M. C., Rozemuller, A. J. M., Rademakers, R. & Van Swieten, J. C., Nov 2011, In : Journal of Molecular Neuroscience. 45, 3, p. 354-358 5 p.

Research output: Contribution to journalArticle

22 Scopus citations

TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers

Finch, N., Carrasquillo, M. M., Baker, M., Rutherford, N. J., Coppola, G., Dejesus-Hernandez, M., Crook, R., Hunter, T., Ghidoni, R., Benussi, L., Crook, J., Finger, E., Hantanpaa, K. J., Karydas, A. M., Sengdy, P., Gonzalez, J., Seeley, W. W., Johnson, N., Beach, T. G., Mesulam, M. & 19 others, Forloni, G., Kertesz, A., Knopman, D. S., Uitti, R., White, C. L., Caselli, R., Lippa, C., Bigio, E. H., Wszolek, Z. K., Binetti, G., MacKenzie, I. R., Miller, B. L., Boeve, B. F., Younkin, S. G., Dickson, D. W., Petersen, R. C., Graff-Radford, N. R., Geschwind, D. H. & Rademakers, R., Feb 1 2011, In : Neurology. 76, 5, p. 467-474 8 p.

Research output: Contribution to journalArticle

133 Scopus citations

Trajectories of brain and hippocampal atrophy in FTD with mutations in MAPT or GRN

Whitwell, J. L., Weigand, S. D., Gunter, J. L., Boeve, B. F., Rademakers, R., Baker, M., Knopman, D. S., Wszolek, Z. K., Petersen, R. C., Jack, C. R. & Josephs, K. A., Jul 26 2011, In : Neurology. 77, 4, p. 393-398 6 p.

Research output: Contribution to journalArticle

33 Scopus citations
2010

Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin

Kelley, B. J., Haidar, W., Boeve, B. F., Baker, M., Shiung, M., Knopman, D. S., Rademakers, R., Hutton, M., Adamson, J., Kuntz, K. M., Dickson, D. W., Parisi, J. E., Smith, G. E. & Petersen, R. C., Feb 1 2010, In : Archives of neurology. 67, 2, p. 171-177 7 p.

Research output: Contribution to journalArticle

47 Scopus citations