Bernardino Ghetti

  • 32255 Citations
  • 88 h-Index
1967 …2020

Research output per year

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2011

Genome-wide association of familial late-onset alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE

Wijsman, E. M., Pankratz, N. D., Choi, Y., Rothstein, J. H., Faber, K. M., Cheng, R., Lee, J. H., Bird, T. D., Bennett, D. A., Diaz-Arrastia, R., Goate, A. M., Farlow, M., Ghetti, B., Sweet, R. A., Foroud, T. M. & Mayeux, R., Feb 1 2011, In : PLoS Genetics. 7, 2, e1001308.

Research output: Contribution to journalArticle

151 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

291 Scopus citations

Presence of reactive microglia and neuroinflammatory mediators in a case of frontotemporal dementia with P301S mutation

Bellucci, A., Bugiani, O., Ghetti, B. & Spillantini, M. G., May 1 2011, In : Neurodegenerative Diseases. 8, 4, p. 221-229 9 p.

Research output: Contribution to journalArticle

38 Scopus citations

Rapidly progressive atypical parkinsonism associated with frontotemporal lobar degeneration and motor neuron disease

Espay, A. J., Spina, S., Houghton, D. J., Murrell, J. R., De Courten-Myers, G. M., Ghetti, B. & Litvan, I., Jul 2011, In : Journal of Neurology, Neurosurgery and Psychiatry. 82, 7, p. 751-753 3 p.

Research output: Contribution to journalArticle

10 Scopus citations
2012

Allelic origin of protease-sensitive and protease-resistant prion protein isoforms in gerstmann-sträussler-scheinker disease with the p102l mutation

Monaco, S., Fiorini, M., Farinazzo, A., Ferrari, S., Gelati, M., Piccardo, P., Zanusso, G. & Ghetti, B., Feb 23 2012, In : PLoS ONE. 7, 2, e32382.

Research output: Contribution to journalArticle

16 Scopus citations

APP mutations in the Aβ coding region are associated with abundant cerebral deposition of Aβ38

Moro, M. L., Giaccone, G., Lombardi, R., Indaco, A., Uggetti, A., Morbin, M., Saccucci, S., Di Fede, G., Catania, M., Walsh, D. M., Demarchi, A., Rozemuller, A., Bogdanovic, N., Bugiani, O., Ghetti, B. & Tagliavini, F., Dec 2012, In : Acta Neuropathologica. 124, 6, p. 809-821 13 p.

Research output: Contribution to journalArticle

22 Scopus citations

Clinical and biomarker changes in dominantly inherited Alzheimer's disease

Bateman, R. J., Xiong, C., Benzinger, T. L. S., Fagan, A. M., Goate, A., Fox, N. C., Marcus, D. S., Cairns, N. J., Xie, X., Blazey, T. M., Holtzman, D. M., Santacruz, A., Buckles, V., Oliver, A., Moulder, K., Aisen, P. S., Ghetti, B., Klunk, W. E., McDade, E., Martins, R. N. & 8 others, Masters, C. L., Mayeux, R., Ringman, J. M., Rossor, M. N., Schofield, P. R., Sperling, R. A., Salloway, S. & Morris, J. C., Aug 30 2012, In : New England Journal of Medicine. 367, 9, p. 795-804 10 p.

Research output: Contribution to journalArticle

1668 Scopus citations

Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis

Whitcomb, D. C., LaRusch, J., Krasinskas, A. M., Klei, L., Smith, J. P., Brand, R. E., Neoptolemos, J. P., Lerch, M. M., Tector, M., Sandhu, B. S., Guda, N. M., Orlichenko, L., Alkaade, S., Amann, S. T., Anderson, M. A., Baillie, J., Banks, P. A., Conwell, D., Coté, G. A., Cotton, P. B. & 178 others, DiSario, J., Farrer, L. A., Forsmark, C. E., Johnstone, M., Gardner, T. B., Gelrud, A., Greenhalf, W., Haines, J. L., Hartman, D. J., Hawes, R. A., Lawrence, C., Lewis, M., Mayerle, J., Mayeux, R., Melhem, N. M., Money, M. E., Muniraj, T., Papachristou, G. I., Pericak-Vance, M. A., Romagnuolo, J., Schellenberg, G. D., Sherman, S., Simon, P., Singh, V. P., Slivka, A., Stolz, D., Sutton, R., Weiss, F. U., Wilcox, C. M., Zarnescu, N. O., Wisniewski, S. R., O'Connell, M. R., Kienholz, M. L., Roeder, K., Barmada, M. M., Yadav, D., Devlin, B., Albert, M. S., Albin, R. L., Apostolova, L. G., Arnold, S. E., Baldwin, C. T., Barber, R., Barnes, L. L., Beach, T. G., Beecham, G. W., Beekly, D., Bennett, D. A., Bigio, E. H., Bird, T. D., Blacker, D., Boxer, A., Burke, J. R., Buxbaum, J. D., Cairns, N. J., Cantwell, L. B., Cao, C., Carney, R. M., Carroll, S. L., Chui, H. C., Clark, D. G., Cribbs, D. H., Crocco, E. A., Cruchaga, C., DeCarli, C., Demirci, F. Y., Dick, M., Dickson, D. W., Duara, R., Ertekin-Taner, N., Faber, K. M., Fallon, K. B., Farlow, M. R., Ferris, S., Foroud, T. M., Frosch, M. P., Galasko, D. R., Ganguli, M., Gearing, M., Geschwind, D. H., Ghetti, B., Gilbert, J. R., Gilman, S., Glass, J. D., Goate, A. M., Graff-Radford, N. R., Green, R. C., Growdon, J. H., Hakonarson, H., Hamilton-Nelson, K. L., Hamilton, R. L., Harrell, L. E., Head, E., Honig, L. S., Hulette, C. M., Hyman, B. T., Jicha, G. A., Jin, L. W., Jun, G., Kamboh, M. I., Karydas, A., Kaye, J. A., Kim, R., Koo, E. H., Kowall, N. W., Kramer, J. H., Kramer, P., Kukul, W. A., LaFerla, F. M., Lah, J. J., Leverenz, J. B., Levey, A. I., Li, G., Lin, C. F., Lieberman, A. P., Lopez, O. L., Lunetta, K. L., Lyketsos, C. G., MacK, W. J., Marson, D. C., Martin, E. R., Martiniuk, F., Mash, D. C., Masliah, E., McKee, A. C., Mesulam, M., Miller, B. L., Miller, C. A., Miller, J. W., Montine, T. J., Morris, J. C., Murrel, J. R., Naj, A. C., Olichney, J. M., Parisi, J. E., Peskind, E., Petersen, R. C., Pierce, A., Poon, W. W., Potter, H., Quinn, J. F., Raj, A., Raskind, M., Reiman, E. M., Reisberg, B., Reitz, C., Ringman, J. M., Roberson, E. D., Rosen, H. J., Rosenberg, R. N., Sano, M., Saykin, A. J., Schneider, J. A., Schneider, L. S., Seeley, W. W., Smith, A. G., Sonnen, J. A., Spina, S., Stern, R. A., Tanzi, R. E., Trojanowski, J. Q., Troncoso, J. C., Tsuang, D. W., Valladares, O., Van Deerlin, V. M., Van Eldik, L. J., Vardarajan, B. N., Vinters, H. V., Vonsatte, J. P., Wang, L. S., Weintraub, S., Welsh-Bohmer, K. A., Williamson, J., Woltjer, R. L., Wright, C. B., Younkin, S. G., Yu, C. E. & Yu, L., Dec 1 2012, In : Nature genetics. 44, 12, p. 1349-1354 6 p.

Research output: Contribution to journalArticle

156 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

138 Scopus citations

Frontotemporal dementia: Implications for understanding Alzheimer disease

Goedert, M., Ghetti, B. & Spillantini, M. G., Feb 2012, In : Cold Spring Harbor Perspectives in Medicine. 2, 2, a006254.

Research output: Contribution to journalArticle

96 Scopus citations

Mechanism of PrP-amyloid formation in mice without transmissible spongiform encephalopathy

Jeffrey, M., McGovern, G., Chambers, E. V., King, D., González, L., Manson, J. C., Ghetti, B., Piccardo, P. & Barron, R. M., Jan 1 2012, In : Brain Pathology. 22, 1, p. 58-66 9 p.

Research output: Contribution to journalArticle

21 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

57 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

283 Scopus citations

Screening for C9ORF72 repeat expansion in FTLD

Ferrari, R., Mok, K., Moreno, J. H., Cosentino, S., Goldman, J., Pietrini, P., Mayeux, R., Tierney, M. C., Kapogiannis, D., Jicha, G. A., Murrell, J. R., Ghetti, B., Wassermann, E. M., Grafman, J., Hardy, J., Huey, E. D. & Momeni, P., Aug 2012, In : Neurobiology of Aging. 33, 8, p. 1850.e1-1850.e11

Research output: Contribution to journalArticle

39 Scopus citations

The Psen1-L166P-knock-in mutation leads to amyloid deposition in human wild-type amyloid precursor protein YAC transgenic mice

Vidal, R., Sammeta, N., Garringer, H. J., Sambamurti, K., Miravalle, L., Lamb, B. T. & Ghetti, B., Jul 1 2012, In : FASEB Journal. 26, 7, p. 2899-2910 12 p.

Research output: Contribution to journalArticle

11 Scopus citations
2013

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

Nalls, M. A., Duran, R., Lopez, G., Kurzawa-Akanbi, M., McKeith, I. G., Chinnery, P. F., Morris, C. M., Theuns, J., Crosiers, D., Cras, P., Engelborghs, S., De Deyn, P. P., Van Broeckhoven, C., Mann, D. M. A., Snowden, J., Pickering-Brown, S., Halliwell, N., Davidson, Y., Gibbons, L., Harris, J. & 38 others, Sheerin, U. M., Bras, J., Hardy, J., Clark, L., Marder, K., Honig, L. S., Berg, D., Maetzler, W., Brockmann, K., Gasser, T., Novellino, F., Quattrone, A., Annesi, G., De Marco, E. V., Rogaeva, E., Masellis, M., Black, S. E., Bilbao, J. M., Foroud, T., Ghetti, B., Nichols, W. C., Pankratz, N., Halliday, G., Lesage, S., Klebe, S., Durr, A., Duyckaerts, C., Brice, A., Giasson, B. I., Trojanowski, J. Q., Hurtig, H. I., Tayebi, N., Landazabal, C., Knight, M. A., Keller, M., Singleton, A. B., Wolfsberg, T. G. & Sidransky, E., Jun 2013, In : JAMA Neurology. 70, 6, p. 727-735 9 p.

Research output: Contribution to journalArticle

206 Scopus citations

Brain homogenates from human tauopathies induce tau inclusions in mouse brain

Clavaguera, F., Akatsu, H., Fraser, G., Crowther, R. A., Frank, S., Hench, J., Probst, A., Winkler, D. T., Reichwald, J., Staufenbiel, M., Ghetti, B., Goedert, M. & Tolnay, M., Jun 4 2013, In : Proceedings of the National Academy of Sciences of the United States of America. 110, 23, p. 9535-9540 6 p.

Research output: Contribution to journalArticle

362 Scopus citations

Globular glial tauopathies (GGT): Consensus recommendations

Ahmed, Z., Bigio, E. H., Budka, H., Dickson, D. W., Ferrer, I., Ghetti, B., Giaccone, G., Hatanpaa, K. J., Holton, J. L., Josephs, K. A., Powers, J., Spina, S., Takahashi, H., White, C. L., Revesz, T. & Kovacs, G. G., Sep 2 2013, In : Acta Neuropathologica. 126, 4, p. 537-544 8 p.

Research output: Contribution to journalArticle

98 Scopus citations

Increased Tau Phosphorylation and Tau Truncation, and Decreased Synaptophysin Levels in Mutant BRI2/Tau Transgenic Mice

Garringer, H. J., Murrell, J., Sammeta, N., Gnezda, A., Ghetti, B. & Vidal, R., Feb 13 2013, In : PLoS ONE. 8, 2, e56426.

Research output: Contribution to journalArticle

15 Scopus citations

Influence of Genetic Variation on Plasma Protein Levels in Older Adults Using a Multi-Analyte Panel

Kim, S., Swaminathan, S., Inlow, M., Risacher, S. L., Nho, K., Shen, L., Foroud, T. M., Petersen, R. C., Aisen, P. S., Soares, H., Toledo, J. B., Shaw, L. M., Trojanowski, J. Q., Weiner, M. W., McDonald, B. C., Farlow, M. R., Ghetti, B. & Saykin, A. J., Jul 23 2013, In : PloS one. 8, 7, e70269.

Research output: Contribution to journalArticle

43 Scopus citations

Inge Grundke-Iqbal, Ph.D. (1937-2012): the discoverer of the abnormal hyperphosphorylation of tau in Alzheimer's disease.

Alonso, A. D. C., ElAkkad, E., Gong, C. X., Liu, F., Tanaka, T., Kudo, T., Tatebayashi, Y., Pei, J. J., Wang, J. Z., Khatoon, S., Flory, M., Ghetti, B., Gozes, I., Novak, M., Novak, M., Robakis, N. K., de Leon, M. & Iqbal, M., Feb 2013, In : Journal of molecular neuroscience : MN. 49, 2, p. 430-435 6 p.

Research output: Contribution to journalArticle

2 Scopus citations

Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations

Sundal, C., Fujioka, S., Van Gerpen, J. A., Wider, C., Nicholson, A. M., Baker, M., Shuster, E. A., Aasly, J., Spina, S., Ghetti, B., Roeber, S., Garbern, J., Tselis, A., Swerdlow, R. H., Miller, B. B., Borjesson-Hanson, A., Uitti, R. J., Ross, O. A., Stoessl, A. J., Rademakers, R. & 4 others, Josephs, K. A., Dickson, D. W., Broderick, D. & Wszolek, Z. K., Oct 1 2013, In : Parkinsonism and Related Disorders. 19, 10, p. 869-877 9 p.

Research output: Contribution to journalArticle

41 Scopus citations

Phenotypic variability in three families with valosin-containing protein mutation

Spina, S., Van Laar, A. D., Murrell, J. R., Hamilton, R. L., Kofler, J. K., Epperson, F., Farlow, M. R., Lopez, O. L., Quinlan, J., Dekosky, S. T. & Ghetti, B., Feb 1 2013, In : European Journal of Neurology. 20, 2, p. 251-258 8 p.

Research output: Contribution to journalArticle

36 Scopus citations

Preclinical trials in autosomal dominant AD: Implementation of the DIAN-TU trial

Mills, S. M., Mallmann, J., Santacruz, A. M., Fuqua, A., Carril, M., Aisen, P. S., Althage, M. C., Belyew, S., Benzinger, T. L., Brooks, W. S., Buckles, V. D., Cairns, N. J., Clifford, D., Danek, A., Fagan, A. M., Farlow, M., Fox, N., Ghetti, B., Goate, A. M., Heinrichs, D. & 22 others, Hornbeck, R., Jack, C., Jucker, M., Klunk, W. E., Marcus, D. S., Martins, R. N., Masters, C. M., Mayeux, R., McDade, E., Morris, J. C., Oliver, A., Ringman, J. M., Rossor, M. N., Salloway, S., Schofield, P. R., Snider, J., Snyder, P., Sperling, R. A., Stewart, C., Thomas, R. G., Xiong, C. & Bateman, R. J., Oct 1 2013, In : Revue Neurologique. 169, 10, p. 737-743 7 p.

Research output: Contribution to journalArticle

89 Scopus citations

Regional variability of imaging biomarkers in autosomal dominant Alzheimer's disease

Benzinger, T. L. S., Blazey, T., Jack, C. R., Koeppe, R. A., Su, Y., Xiong, C., Raichle, M. E., Snyder, A. Z., Ances, B. M., Bateman, R. J., Cairns, N. J., Fagan, A. M., Goate, A., Marcus, D. S., Aisen, P. S., Christensen, J. J., Ercole, L., Hornbeck, R. C., Farrar, A. M., Aldea, P. & 30 others, Jasielec, M. S., Owen, C. J., Xie, X., Mayeux, R., Brickman, A., McDade, E., Klunk, W., Mathis, C. A., Ringman, J., Thompson, P. M., Ghetti, B., Saykin, A. J., Sperling, R. A., Johnson, K. A., Salloway, S., Correia, S., Schofield, P. R., Masters, C. L., Rowe, C., Villemagne, V. L., Martins, R., Ourselin, S., Rossor, M. N., Fox, N. C., Cash, D. M., Weiner, M. W., Holtzman, D. M., Buckles, V. D., Moulder, K. & Morris, J. C., Nov 19 2013, In : Proceedings of the National Academy of Sciences of the United States of America. 110, 47, p. E4502-E4509

Research output: Contribution to journalArticle

181 Scopus citations

Subjects harboring presenilin familial Alzheimer’s disease mutations exhibit diverse white matter biochemistry alterations

Roher, A. E., Maarouf, C. L., Malek-Ahmadi, M., Wilson, J., Kokjohn, T. A., Daugs, I. D., Whiteside, C. M., Kalback, W. M., Macias, M. M. P., Jacobson, S. A., Sabbagh, M. N., Ghetti, B. & Beach, T. G., Sep 30 2013, In : American Journal of Neurodegenerative Diseases. 2, 3, p. 187-207 21 p.

Research output: Contribution to journalArticle

8 Scopus citations

The pattern of atrophy in familial alzheimer disease: Volumetric MRI results from the DIAN study

Cash, D. M., Ridgway, G. R., Liang, Y., Ryan, N. S., Kinnunen, K. M., Yeatman, T., Malone, I. B., Benzinger, T. L. S., Jack, C. R., Thompson, P. M., Ghetti, B. F., Saykin, A. J., Masters, C. L., Ringman, J. M., Salloway, S. P., Schofield, P. R., Sperling, R. A., Cairns, N. J., Marcus, D. S., Xiong, C. & 5 others, Bateman, R. J., Morris, J. C., Rossor, M. N., Ourselin, S. & Fox, N. C., Oct 15 2013, In : Neurology. 81, 16, p. 1425-1433 9 p.

Research output: Contribution to journalArticle

44 Scopus citations

Whole-exome sequencing and imaging genetics identify functional variants for rate of change in hippocampal volume in mild cognitive impairment

Nho, K., Corneveaux, J. J., Kim, S., Lin, H., Risacher, S. L., Shen, L., Swaminathan, S., Ramanan, V. K., Liu, Y., Foroud, T., Inlow, M. H., Siniard, A. L., Reiman, R. A., Aisen, P. S., Petersen, R. C., Green, R. C., Jack, C. R., Weiner, M. W., Baldwin, C. T., Lunetta, K. & 14 others, Farrer, L. A., Furney, S. J., Lovestone, S., Simmons, A., Mecocci, P., Vellas, B., Tsolaki, M., Kloszewska, I., Soininen, H., McDonald, B. C., Farlow, M. R., Ghetti, B., Huentelman, M. J. & Saykin, A. J., Jul 1 2013, In : Molecular Psychiatry. 18, 7, p. 781-787 7 p.

Research output: Contribution to journalArticle

52 Scopus citations
2014

Cerebral hypometabolism and grey matter density in MAPT intron 10 +3 mutation carriers

Deters, K. D., Risacher, S. L., Farlow, M., Unverzagt, F., Kareken, D., Hutchins, G., Yoder, K., Murrell, J. R., Spina, S., Epperson, F., Gao, S., Saykin, A. & Ghetti, B., 2014, In : American Journal of Neurodegenerative Diseases. 3, 3, p. 103-114 12 p.

Research output: Contribution to journalArticle

7 Scopus citations

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: A genome-wide association study

Alzheimer Disease Genetics Consortium, Nov 1 2014, In : JAMA Neurology. 71, 11, p. 1394-1404 11 p.

Research output: Contribution to journalArticle

93 Scopus citations

Enlarging the nosological spectrum of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)

Hoffmann, S., Murrell, J., Harms, L., Miller, K., Meisel, A., Brosch, T., Scheel, M., Ghetti, B., Goebel, H. H. & Stenzel, W., Sep 1 2014, In : Brain pathology (Zurich, Switzerland). 24, 5, p. 452-458 7 p.

Research output: Contribution to journalArticle

15 Scopus citations

Functional connectivity in autosomal dominant and late-onset Alzheimer disease

Thomas, J. B., Brier, M. R., Bateman, R. J., Snyder, A. Z., Benzinger, T. L., Xiong, C., Raichle, M., Holtzman, D. M., Sperling, R. A., Mayeux, R., Ghetti, B., Ringman, J. M., Salloway, S., McDade, E., Rossor, M. N., Ourselin, S., Schofield, P. R., Masters, C. L., Martins, R. N., Weiner, M. W. & 18 others, Thompson, P. M., Fox, N. C., Koeppe, R. A., Jack, C. R., Mathis, C. A., Oliver, A., Blazey, T. M., Moulder, K., Buckles, V., Hornbeck, R., Chhatwal, J., Schultz, A. P., Goate, A. M., Fagan, A. M., Cairns, N. J., Marcus, D. S., Morris, J. C. & Ances, B. M., Sep 1 2014, In : JAMA Neurology. 71, 9, p. 1111-1122 12 p.

Research output: Contribution to journalArticle

48 Scopus citations

Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias

Beecham, G. W., Hamilton, K., Naj, A. C., Martin, E. R., Huentelman, M., Myers, A. J., Corneveaux, J. J., Hardy, J., Vonsattel, J. P., Younkin, S. G., Bennett, D. A., De Jager, P. L., Larson, E. B., Crane, P. K., Kamboh, M. I., Kofler, J. K., Mash, D. C., Duque, L., Gilbert, J. R., Gwirtsman, H. & 16 others, Buxbaum, J. D., Kramer, P., Dickson, D. W., Farrer, L. A., Frosch, M. P., Ghetti, B., Haines, J. L., Hyman, B. T., Kukull, W. A., Mayeux, R. P., Pericak-Vance, M. A., Schneider, J. A., Trojanowski, J. Q., Reiman, E. M., Schellenberg, G. D. & Montine, T. J., Sep 1 2014, In : PLoS Genetics. 10, 9

Research output: Contribution to journalArticle

152 Scopus citations

Gerstmann-sträussler-scheinker disease and anchorless prion protein mice share prion conformational properties diverging from sporadic creutzfeldt-jakob disease

Zanusso, G., Fiorini, M., Ferrari, S., Meade-White, K., Barbieri, I., Brocchi, E., Ghetti, B. & Monaco, S., Feb 21 2014, In : Journal of Biological Chemistry. 289, 8, p. 4870-4881 12 p.

Research output: Contribution to journalArticle

10 Scopus citations

Longitudinal change in CSF biomarkers in autosomal-dominant Alzheimer's disease

Fagan, A. M., Xiong, C., Jasielec, M. S., Bateman, R. J., Goate, A. M., Benzinger, T. L. S., Ghetti, B., Martins, R. N., Masters, C. L., Mayeux, R., Ringman, J. M., Rossor, M. N., Salloway, S., Schofield, P. R., Sperling, R. A., Marcus, D., Cairns, N. J., Buckles, V. D., Ladenson, J. H., Morris, J. C. & 1 others, Holtzman, D. M., Mar 5 2014, In : Science translational medicine. 6, 226, 226ra30.

Research output: Contribution to journalArticle

169 Scopus citations

Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: A neuropathologic and neuroanatomical study of four siblings

Oblak, A. L., Hagen, M. C., Sweadner, K. J., Haq, I., Whitlow, C. T., Maldjian, J. A., Epperson, F., Cook, J. F., Stacy, M., Murrell, J. R., Ozelius, L. J., Brashear, A. & Ghetti, B., Jul 2014, In : Acta Neuropathologica. 128, 1, p. 81-98 18 p.

Research output: Contribution to journalArticle

25 Scopus citations

Symptom onset in autosomal dominant Alzheimer disease: A systematic review and meta-analysis

Ryman, D. C., Acosta-Baena, N., Aisen, P. S., Bird, T., Danek, A., Fox, N. C., Goate, A., Frommelt, P., Ghetti, B., Langbaum, J. B. S., Lopera, F., Martins, R., Masters, C. L., Mayeux, R. P., McDade, E., Moreno, S., Reiman, E. M., Ringman, J. M., Salloway, S., Schofield, P. R. & 5 others, Sperling, R., Tariot, P. N., Xiong, C., Morris, J. C. & Bateman, R. J., Jul 15 2014, In : Neurology. 83, 3, p. 253-260 8 p.

Research output: Contribution to journalArticle

172 Scopus citations

The Tau Tubulin Kinases TTBK1/2 Promote Accumulation of Pathological TDP-43

Liachko, N. F., McMillan, P. J., Strovas, T. J., Loomis, E., Greenup, L., Murrell, J. R., Ghetti, B., Raskind, M. A., Montine, T. J., Bird, T. D., Leverenz, J. B. & Kraemer, B. C., Dec 1 2014, In : PLoS Genetics. 10, 12

Research output: Contribution to journalArticle

39 Scopus citations

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

Gallagher, M. D., Suh, E., Grossman, M., Elman, L., McCluskey, L., Van Swieten, J. C., Al-Sarraj, S., Neumann, M., Gelpi, E., Ghetti, B., Rohrer, J. D., Halliday, G., Van Broeckhoven, C., Seilhean, D., Shaw, P. J., Frosch, M. P., Alafuzoff, I., Antonell, A., Bogdanovic, N., Brooks, W. & 56 others, Cairns, N. J., Cooper-Knock, J., Cotman, C., Cras, P., Cruts, M., De Deyn, P. P., Decarli, C., Dobson-Stone, C., Engelborghs, S., Fox, N., Galasko, D., Gearing, M., Gijselinck, I., Grafman, J., Hartikainen, P., Hatanpaa, K. J., Highley, J. R., Hodges, J., Hulette, C., Ince, P. G., Jin, L. W., Kirby, J., Kofler, J., Kril, J., Kwok, J. B. J., Levey, A., Lieberman, A., Llado, A., Martin, J. J., Masliah, E., McDermott, C. J., McKee, A., McLean, C., Mead, S., Miller, C. A., Miller, J., Munoz, D. G., Murrell, J., Paulson, H., Piguet, O., Rossor, M., Sanchez-Valle, R., Sano, M., Schneider, J., Silbert, L. C., Spina, S., Van Der Zee, J., Van Langenhove, T., Warren, J., Wharton, S. B., White, C. L., Woltjer, R. L., Trojanowski, J. Q., Lee, V. M. Y., Van Deerlin, V. & Chen-Plotkin, A. S., Mar 2014, In : Acta Neuropathologica. 127, 3, p. 407-418 12 p.

Research output: Contribution to journalArticle

68 Scopus citations

Visuoperception test predicts pathologic diagnosis of Alzheimer disease in corticobasal syndrome

Boyd, C. D., Tierney, M., Wassermann, E. M., Spina, S., Oblak, A. L., Ghetti, B., Grafman, J. & Huey, E., Aug 5 2014, In : Neurology. 83, 6, p. 510-519 10 p.

Research output: Contribution to journalArticle

8 Scopus citations
2015

Association of long runs of homozygosity with Alzheimer disease among African American individuals

Ghani, M., Reitz, C., Cheng, R., Vardarajan, B. N., Jun, G., Sato, C., Naj, A., Rajbhandary, R., Wang, L. S., Valladares, O., Lin, C. F., Larson, E. B., Graff-Radford, N. R., Evans, D., De Jager, P. L., Crane, P. K., Buxbaum, J. D., Murrell, J. R., Raj, T., Ertekin-Taner, N. & 153 others, Logue, M., Baldwin, C. T., Green, R. C., Barnes, L. L., Cantwell, L. B., Fallin, M. D., Go, R. C. P., Griffith, P. A., Obisesan, T. O., Manly, J. J., Lunetta, K. L., Kamboh, M. I., Lopez, O. L., Bennett, D. A., Hendrie, H., Hall, K. S., Goate, A. M., Byrd, G. S., Kukull, W. A., Foroud, T. M., Haines, J. L., Farrer, L. A., Pericak-Vance, M. A., Lee, J. H., Schellenberg, G. D., St. George-Hyslop, P., Mayeux, R., Rogaeva, E., Albert, M. S., Albin, R. L., Apostolova, L. G., Arnold, S. E., Barber, R., Barmada, M. M., Beach, T. G., Beecham, G. W., Beekly, D., Bigio, E. H., Bird, T. D., Blacker, D., Boeve, B. F., Bowen, J. D., Boxer, A., Burke, J. R., Cai, G., Cairns, N. J., Cao, C., Carlson, C. S., Carney, R. M., Carroll, S. L., Chui, H. C., Clark, D. G., Cribbs, D. H., Crocco, E. A., Cruchaga, C., DeCarli, C., DeKosky, S. T., Demirci, F. Y., Dick, M., Faber, K. M., Fallon, K. B., Ferris, S., Frosch, M. P., Galasko, D. R., Ganguli, M., Gearing, M., Geschwind, D. H., Ghetti, B., Gilbert, J. R., Gilman, S., Glass, J. D., Growdon, J. H., Hakonarson, H., Hamilton, R. L., Hamilton-Nelson, K. L., Haroutunian, V., Harrell, L. E., Honig, L. S., Hulette, C. M., Hyman, B. T., Jarvik, G. P., Jicha, G. A., Jin, L. W., Karydas, A., Kauwe, J. S. K., Kaye, J. A., Kim, R., Koo, E. H., Kowall, N. W., Kramer, J. H., Kramer, P., LaFerla, F. M., Lah, J. J., Lang-Walker, R., Leverenz, J. B., Levey, A. I., Li, G., Lieberman, A. P., Lyketsos, C. G., Mack, W. J., Marson, D. C., 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., Olichney, J. M., Parisi, J. E., Peskind, E., Petersen, R. C., Pierce, A., Poon, W. W., Potter, H., Quinn, J. F., Raj, A., Raskind, M., Reiman, E. M., Reisberg, B., Ringman, J. M., Roberson, E. D., Sano, M., Saykin, A. J., Schneider, J. A., Schneider, L. S., Seeley, W. W., Smith, A. G., Sonnen, J. A., Spina, S., Stern, R. A., Tanzi, R. E., Trojanowski, J. Q., Troncoso, J. C., Tsuang, D. W., Van Deerlin, V. M., Van Eldik, L. J., Vinters, H. V., Vonsattel, J. P., Weintraub, S., Welsh-Bohmer, K. A., Williamson, J., Woltjer, R. L., Wright, C. B., Younkin, S. G., Yu, C. E. & Yu, L., Nov 2015, In : JAMA Neurology. 72, 11, p. 1313-1323 11 p.

Research output: Contribution to journalArticle

Open Access
18 Scopus citations

Associations between Potentially Modifiable Risk Factors and Alzheimer Disease: A Mendelian Randomization Study

Alzheimer’s Disease Genetics Consortium, The GERAD1 Consortium & EPIC-InterAct Consortium, Jun 1 2015, In : PLoS Medicine. 12, 6, e1001841.

Research output: Contribution to journalArticle

69 Scopus citations

Bank Vole Prion Protein As an Apparently Universal Substrate for RT-QuIC-Based Detection and Discrimination of Prion Strains

Orrú, C. D., Groveman, B. R., Raymond, L. D., Hughson, A. G., Nonno, R., Zou, W., Ghetti, B., Gambetti, P. & Caughey, B., Jun 1 2015, In : PLoS pathogens. 11, 6, e1004983.

Research output: Contribution to journalArticle

73 Scopus citations

Cerebral amyloidosis associated with cognitive decline in autosomal dominant Alzheimer disease

Wang, F., Gordon, B. A., Ryman, D. C., Ma, S., Xiong, C., Hassenstab, J., Goate, A., Fagan, A. M., Cairns, N. J., Marcus, D. S., McDade, E., Ringman, J. M., Graff-Radford, N. R., Ghetti, B., Farlow, M. R., Sperling, R., Salloway, S., Schofield, P. R., Masters, C. L., Martins, R. N. & 8 others, Rossor, M. N., Jucker, M., Danek, A., Förster, S., Lane, C. A. S., Morris, J. C., Benzinger, T. L. S. & Bateman, R. J., Sep 1 2015, In : Neurology. 85, 9, p. 790-798 9 p.

Research output: Contribution to journalArticle

15 Scopus citations

Distinct Neurodegenerative Changes in an Induced Pluripotent Stem Cell Model of Frontotemporal Dementia Linked to Mutant TAU Protein

Ehrlich, M., Hallmann, A. L., Reinhardt, P., Araúzo-Bravo, M. J., Korr, S., Röpke, A., Psathaki, O. E., Ehling, P., Meuth, S. G., Oblak, A. L., Murrell, J. R., Ghetti, B., Zaehres, H., Schöler, H. R., Sterneckert, J., Kuhlmann, T. & Hargus, G., Jul 14 2015, In : Stem Cell Reports. 5, 1, p. 83-96 14 p.

Research output: Contribution to journalArticle

41 Scopus citations

Early behavioural changes in familial Alzheimer's disease in the Dominantly Inherited Alzheimer Network

Ringman, J. M., Liang, L. J., Zhou, Y., Vangala, S., Teng, E., Kremen, S., Wharton, D., Goate, A., Marcus, D. S., Farlow, M., Ghetti, B., McDade, E., Masters, C. L., Mayeux, R. P., Rossor, M., Salloway, S., Schofield, P. R., Cummings, J. L., Buckles, V., Bateman, R. & 1 others, Morris, J. C., Apr 1 2015, In : Brain. 138, 4, p. 1036-1045 10 p.

Research output: Contribution to journalArticle

31 Scopus citations

Erratum: Early behavioural changes in familial Alzheimers disease in the Dominantly Inherited Alzheimer Network (Brain (2015) 138 (103645) (10.1093/brain/awv004))

Ringman, J. M., Liang, L. J., Zhou, Y., Vangala, S., Teng, E., Kremen, S., Wharton, D., Goate, A., Marcus, D. S., Farlow, M., Ghetti, B., McDade, E., Masters, C. L., Mayeux, R. P., Rossor, M., Salloway, S., Schofield, P. R., Cummings, J. L., Buckles, V., Bateman, R. & 1 others, Morris, J. C., Dec 1 2015, In : Brain. 138, 12, p. e401

Research output: Contribution to journalArticle

Florbetaben PET imaging to detect amyloid beta plaques in Alzheimer's disease: Phase 3 study

Florbetaben Phase 3 Study Group, Aug 1 2015, In : Alzheimer's and Dementia. 11, 8, p. 964-974 11 p., 1958.

Research output: Contribution to journalArticle

182 Scopus citations

Genetically predicted body mass index and Alzheimer's disease-related phenotypes in three large samples: Mendelian randomization analyses

Adult Changes in Thought Study Investigators, Religious Orders Study/Memory and Aging Project Investigators & Alzheimer's Disease Genetics Consortium, Dec 1 2015, In : Alzheimer's and Dementia. 11, 12, p. 1439-1451 13 p.

Research output: Contribution to journalArticle

22 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