Bernardino Ghetti

  • 32339 Citations
  • 88 h-Index
1967 …2020

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2017

Novel strain properties distinguishing sporadic prion diseases sharing prion protein genotype and prion type

Cracco, L., Notari, S., Cali, I., Sy, M. S., Chen, S. G., Cohen, M. L., Ghetti, B., Appleby, B. S., Zou, W. Q., Caughey, B., Safar, J. G. & Gambetti, P., Jan 16 2017, In : Scientific reports. 7, 38280.

Research output: Contribution to journalArticle

7 Scopus citations

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

Sims, R., Van Der Lee, S. J., Naj, A. C., Bellenguez, C., Badarinarayan, N., Jakobsdottir, J., Kunkle, B. W., Boland, A., Raybould, R., Bis, J. C., Martin, E. R., Grenier-Boley, B., Heilmann-Heimbach, S., Chouraki, V., Kuzma, A. B., Sleegers, K., Vronskaya, M., Ruiz, A., Graham, R. R., Olaso, R. & 426 others, Hoffmann, P., Grove, M. L., Vardarajan, B. N., Hiltunen, M., Nöthen, M. M., White, C. C., Hamilton-Nelson, K. L., Epelbaum, J., Maier, W., Choi, S. H., Beecham, G. W., Dulary, C., Herms, S., Smith, A. V., Funk, C. C., Derbois, C., Forstner, A. J., Ahmad, S., Li, H., Bacq, D., Harold, D., Satizabal, C. L., Valladares, O., Squassina, A., Thomas, R., Brody, J. A., Qu, L., Sánchez-Juan, P., Morgan, T., Wolters, F. J., Zhao, Y., Garcia, F. S., Denning, N., Fornage, M., Malamon, J., Naranjo, M. C. D., Majounie, E., Mosley, T. H., Dombroski, B., Wallon, D., Lupton, M. K., Dupuis, J., Whitehead, P., Fratiglioni, L., Medway, C., Jian, X., Mukherjee, S., Keller, L., Brown, K., Lin, H., Cantwell, L. B., Panza, F., McGuinness, B., Moreno-Grau, S., Burgess, J. D., Solfrizzi, V., Proitsi, P., Adams, H. H., Allen, M., Seripa, D., Pastor, P., Cupples, L. A., Price, N. D., Hannequin, D., Frank-García, A., Levy, D., Chakrabarty, P., Caffarra, P., Giegling, I., Beiser, A. S., Giedraitis, V., Hampel, H., Garcia, M. E., Wang, X., Lannfelt, L., Mecocci, P., Eiriksdottir, G., Crane, P. K., Pasquier, F., Boccardi, V., Henández, I., Barber, R. C., Scherer, M., Tarraga, L., Adams, P. M., Leber, M., Chen, Y., Albert, M. S., Riedel-Heller, S., Emilsson, V., Beekly, D., Braae, A., Schmidt, R., Blacker, D., Masullo, C., Schmidt, H., Doody, R. S., Spalletta, G., Longstreth, W. T., Fairchild, T. J., Bossù, P., Lopez, O. L., Frosch, M. P., Sacchinelli, E., Ghetti, B., Yang, Q., Huebinger, R. M., Jessen, F., Li, S., Kamboh, M. I., Morris, J. C., Sotolongo-Grau, O., Katz, M. J., Corcoran, C., Dunstan, M., Braddel, A., Thomas, C., Meggy, A., Marshall, R., Gerrish, A., Chapman, J., Aguilar, M., Taylor, S., Hill, M., Fairén, M. D., Hodges, A., Vellas, B., Soininen, H., Kloszewska, I., Daniilidou, M., Uphill, J., Patel, Y., Hughes, J. T., Lord, J., Turton, J., Hartmann, A. M., Cecchetti, R., Fenoglio, C., Serpente, M., Arcaro, M., Caltagirone, C., Orfei, M. D., Ciaramella, A., Pichler, S., Mayhaus, M., Gu, W., Lleó, A., Fortea, J., Blesa, R., Barber, I. S., Brookes, K., Cupidi, C., Maletta, R. G., Carrell, D., Sorbi, S., Moebus, S., Urbano, M., Pilotto, A., Kornhuber, J., Bosco, P., Todd, S., Craig, D., Johnston, J., Gill, M., Lawlor, B., Lynch, A., Fox, N. C., Hardy, J., Albin, R. L., Apostolova, L. G., Arnold, S. E., Asthana, S., Atwood, C. S., Baldwin, C. T., Barnes, L. L., Barral, S., Beach, T. G., Becker, J. T., Bigio, E. H., Bird, T. D., Boeve, B. F., Bowen, J. D., Boxer, A., Burke, J. R., Burns, J. M., Buxbaum, J. D., Cairns, N. J., Cao, C., Carlson, C. S., Carlsson, C. M., Carney, R. M., Carrasquillo, M. M., Carroll, S. L., Diaz, C. C., Chui, H. C., Clark, D. G., Cribbs, D. H., Crocco, E. A., Decarli, C., Dick, M., Duara, R., Evans, D. A., Faber, K. M., Fallon, K. B., Fardo, D. W., Farlow, M. R., Ferris, S., Foroud, T., Galasko, D. R., Gearing, M., Geschwind, D. H., Gilbert, J. R., Graff-Radford, N. R., Green, R. C., Growdon, J. H., Hamilton, R. L., Harrell, L. E., Honig, L. S., Huentelman, M. J., Hulette, C. M., Hyman, B. T., Jarvik, G. P., Abner, E., Jin, L. W., Jun, G., Karydas, A., Kaye, J. A., Kim, R., Kowall, N. W., Kramer, J. H., Laferla, F. M., Lah, J. J., Leverenz, J. B., Levey, A. I., Li, G., Lieberman, A. P., Lunetta, K. L., Lyketsos, C. G., 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., Murrell, J. R., Myers, A. J., O'Bryant, S., Olichney, J. M., Pankratz, V. S., Parisi, J. E., Paulson, H. L., Perry, W., Peskind, E., Pierce, A., Poon, W. W., Potter, H., Quinn, J. F., Raj, A., Raskind, M., Reisberg, B., Reitz, C., Ringman, J. M., Roberson, E. D., Rogaeva, E., Rosen, H. J., Rosenberg, R. N., Sager, M. A., Saykin, A. J., Schneider, J. A., Schneider, L. S., Seeley, W. W., Smith, A. G., Sonnen, J. A., Spina, S., Stern, R. A., Swerdlow, R. H., Tanzi, R. E., Thornton-Wells, T. A., Trojanowski, J. Q., Troncoso, J. C., Van Deerlin, V. M., Van Eldik, L. J., Vinters, H. V., Vonsattel, J. P., Weintraub, S., Welsh-Bohmer, K. A., Wilhelmsen, K. C., Williamson, J., Wingo, T. S., Woltjer, R. L., Wright, C. B., Yu, C. E., Yu, L., Garzia, F., Golamaully, F., Septier, G., Engelborghs, S., Vandenberghe, R., De Deyn, P. P., Fernadez, C. M., Benito, Y. A., Thonberg, H., Forsell, C., Lilius, L., Kinhult-Stählbom, A., Kilander, L., Brundin, R., Concari, L., Helisalmi, S., Koivisto, A. M., Haapasalo, A., Dermecourt, V., Fievet, N., Hanon, O., Dufouil, C., Brice, A., Ritchie, K., Dubois, B., Himali, J. J., Keene, C. D., Tschanz, J., Fitzpatrick, A. L., Kukull, W. A., Norton, M., Aspelund, T., Larson, E. B., Munger, R., Rotter, J. I., Lipton, R. B., Bullido, M. J., Hofman, A., Montine, T. J., Coto, E., Boerwinkle, E., Petersen, R. C., Alvarez, V., Rivadeneira, F., Reiman, E. M., Gallo, M., O'Donnell, C. J., Reisch, J. S., Bruni, A. C., Royall, D. R., Dichgans, M., Sano, M., Galimberti, D., St George-Hyslop, P., Scarpini, E., Tsuang, D. W., Mancuso, M., Bonuccelli, U., Winslow, A. R., Daniele, A., Wu, C. K., Peters, O., Nacmias, B., Riemenschneider, M., Heun, R., Brayne, C., Rubinsztein, D. C., Bras, J., Guerreiro, R., Al-Chalabi, A., Shaw, C. E., Collinge, J., Mann, D., Clarimón, J., Sussams, R., Lovestone, S., O'Donovan, M. C., Owen, M. J., Behrens, T. W., Mead, S., Uitterlinden, A. G., Uitterlinden, A. G., Cruchaga, C., Ingelsson, M., Bennett, D. A., Powell, J., Golde, T. E., Graff, C., De Jager, P. L., Morgan, K., Ertekin-Taner, N., Combarros, O., Psaty, B. M., Passmore, P., Younkin, S. G., Berr, C., Gudnason, V., Rujescu, D., Dickson, D. W., Dartigues, J. F., Destefano, A. L., Ortega-Cubero, S., Hakonarson, H., Campion, D., Boada, M., Kauwe, J. K., Farrer, L. A., Van Broeckhoven, C., Ikram, M. A., Jones, L., Haines, J. L., Tzourio, C., Launer, L. J., Escott-Price, V., Mayeux, R., Deleuze, J. F., Amin, N., Goate, A. M., Pericak-Vance, M. A., Holmans, P. A., Van Duijn, C. M., Ramirez, A., Wang, L. S., Lambert, J. C., Seshadri, S., Williams, J. & Schellenberg, G. D., Sep 1 2017, In : Nature genetics. 49, 9, p. 1373-1384 12 p.

Research output: Contribution to journalArticle

232 Scopus citations

The CNS in inbred transgenic models of 4-repeat Tauopathy develops consistent tau seeding capacity yet focal and diverse patterns of protein deposition

Eskandari-Sedighi, G., Daude, N., Gapeshina, H., Sanders, D. W., Kamali-Jamil, R., Yang, J., Shi, B., Wille, H., Ghetti, B., Diamond, M. I., Janus, C. & Westaway, D., Oct 4 2017, In : Molecular Neurodegeneration. 12, 1, 72.

Research output: Contribution to journalArticle

1 Scopus citations

Transethnic genome-wide scan identifies novel Alzheimer's disease loci

Alzheimer's Disease Genetics Consortium, Jul 2017, In : Alzheimer's and Dementia. 13, 7, p. 727-738 12 p.

Research output: Contribution to journalArticle

44 Scopus citations

Ultrasensitive and selective detection of 3-repeat tau seeding activity in Pick disease brain and cerebrospinal fluid

Saijo, E., Ghetti, B., Zanusso, G., Oblak, A., Furman, J. L., Diamond, M. I., Kraus, A. & Caughey, B., May 1 2017, In : Acta Neuropathologica. 133, 5, p. 751-765 15 p.

Research output: Contribution to journalArticle

40 Scopus citations
2016

Aging-related tau astrogliopathy (ARTAG): harmonized evaluation strategy

Kovacs, G. G., Ferrer, I., Grinberg, L. T., Alafuzoff, I., Attems, J., Budka, H., Cairns, N. J., Crary, J. F., Duyckaerts, C., Ghetti, B., Halliday, G. M., Ironside, J. W., Love, S., Mackenzie, I. R., Munoz, D. G., Murray, M. E., Nelson, P. T., Takahashi, H., Trojanowski, J. Q., Ansorge, O. & 52 others, Arzberger, T., Baborie, A., Beach, T. G., Bieniek, K. F., Bigio, E. H., Bodi, I., Dugger, B. N., Feany, M., Gelpi, E., Gentleman, S. M., Giaccone, G., Hatanpaa, K. J., Heale, R., Hof, P. R., Hofer, M., Hortobágyi, T., Jellinger, K., Jicha, G. A., Ince, P., Kofler, J., Kövari, E., Kril, J. J., Mann, D. M., Matej, R., McKee, A. C., McLean, C., Milenkovic, I., Montine, T. J., Murayama, S., Lee, E. B., Rahimi, J., Rodriguez, R. D., Rozemüller, A., Schneider, J. A., Schultz, C., Seeley, W., Seilhean, D., Smith, C., Tagliavini, F., Takao, M., Thal, D. R., Toledo, J. B., Tolnay, M., Troncoso, J. C., Vinters, H. V., Weis, S., Wharton, S. B., White, C. L., Wisniewski, T., Woulfe, J. M., Yamada, M. & Dickson, D. W., Jan 1 2016, In : Acta Neuropathologica. 131, 1, p. 87-102 16 p.

Research output: Contribution to journalArticle

159 Scopus citations

Altered localization and functionality of TAR DNA binding protein 43 (TDP-43) in niemann-pick disease type C

Dardis, A., Zampieri, S., Canterini, S., Newell, K. L., Stuani, C., Murrell, J. R., Ghetti, B., Fiorenza, M. T., Bembi, B. & Buratti, E., Jan 1 2016, In : Acta Neuropathologica Communications. 4, 1, 52.

Research output: Contribution to journalArticle

8 Scopus citations

Alzheimer's disease risk polymorphisms regulate gene expression in the ZCWPW1 and the CELF1 loci

Alzheimer's Disease Genetics Consortium (ADGC), Feb 2016, In : PloS one. 11, 2, e0148717.

Research output: Contribution to journalArticle

33 Scopus citations

A novel Alzheimer disease locus located near the gene encoding tau protein

Jun, G., Ibrahim-Verbaas, C. A., Vronskaya, M., Lambert, J. C., Chung, J., Naj, A. C., Kunkle, B. W., Wang, L. S., Bis, J. C., Bellenguez, C., Harold, D., Lunetta, K. L., Destefano, A. L., Grenier-Boley, B., Sims, R., Beecham, G. W., Smith, A. V., Chouraki, V., Hamilton-Nelson, K. L., Ikram, M. A. & 332 others, Fievet, N., Denning, N., Martin, E. R., Schmidt, H., Kamatani, Y., Dunstan, M. L., Valladares, O., Laza, A. R., Zelenika, D., Ramirez, A., Foroud, T., Choi, S. H., Boland, A., Becker, T., Kukull, W. A., Van Der Lee, S. J., Pasquier, F., Cruchaga, C., Beekly, D., Fitzpatrick, A. L., Hanon, O., Gill, M., Barber, R., Gudnason, V., Campion, D., Love, S., Bennett, D. A., Amin, N., Berr, C., Tsolaki, M., Buxbaum, J. D., Lopez, O. L., Deramecourt, V., Fox, N. C., Cantwell, L. B., Tárraga, L., Dufouil, C., Hardy, J., Crane, P. K., Eiriksdottir, G., Hannequin, D., Clarke, R., Evans, D., Mosley, T. H., Letenneur, L., Brayne, C., Maier, W., De Jager, P., Emilsson, V., Dartigues, J. F., Hampel, H., Kamboh, M. I., De Bruijn, R. F. A. G., Tzourio, C., Pastor, P., Larson, E. B., Rotter, J. I., O'Donovan, M. C., Montine, T. J., Nalls, M. A., Mead, S., Reiman, E. M., Jonsson, P. V., Holmes, C., St George-Hyslop, P. H., Boada, M., Passmore, P., Wendland, J. R., Schmidt, R., Morgan, K., Winslow, A. R., Powell, J. F., Carasquillo, M., Younkin, S. G., Jakobsdóttir, J., Kauwe, J. S. K., Wilhelmsen, K. C., Rujescu, D., Nöthen, M. M., Hofman, A., Jones, L., Haines, J. L., Psaty, B. M., Van Broeckhoven, C., Holmans, P., Launer, L. J., Mayeux, R., Lathrop, M., Goate, A. M., Escott-Price, V., Seshadri, S., Pericak-Vance, M. A., Amouyel, P., Williams, J., Van Duijn, C. M., Schellenberg, G. D., Farrer, L. A., Adams, P. M., Albert, M. S., Albin, R. L., Apostolova, L. G., Arnold, S. E., Asthana, S., Atwood, C. S., Baldwin, C. T., Barmada, M. M., Barnes, L. L., Beach, T. G., Bigio, E. H., Bird, T. D., Blacker, D., Boeve, B. F., Bowen, J. D., Boxer, A., Burke, J. R., Cairns, N. J., Cao, C., Carlson, C. S., Carlsson, C. M., Carney, R. M., Carrasquillo, M. M., Carroll, S. L., Chui, H. C., Clark, D. G., Corneveaux, J., Cribbs, D. H., Crocco, E. A., DeCarli, C., DeKosky, S. T., Yesim Demirci, F., Dick, M., Dickson, D. W., Doody, R. S., Duara, R., Ertekin-Taner, N., Faber, K. M., Fairchild, T. J., Fallon, K. B., Farlow, M. R., Ferris, S., Frosch, M. P., Galasko, D. R., Gearing, M., Geschwind, D. H., Ghetti, B., Gilbert, J. R., Glass, J. D., Graff-Radford, N. R., Green, R. C., Growdon, J. H., Hakonarson, H., Hamilton, R. L., Harrell, L. E., Head, E., Honig, L. S., Huebinger, R. M., Huentelman, M. J., Hulette, C. M., Hyman, B. T., Jarvik, G. P., Jicha, G. A., Jin, L. W., Karydas, A., Kaye, J. A., Kim, R., Koo, E. H., Kowall, N. W., Kramer, J. H., LaFerla, F. M., Lah, J. J., Leverenz, J. B., Levey, A. I., Li, G., Lieberman, A. P., Lin, C. F., 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., Morris, J. C., Mukherjee, S., Murrell, J. R., Myers, A. J., O'Bryant, S., Olichney, J. M., Pankratz, V. S., Parisi, J. E., Partch, A., Paulson, H. L., Perry, W., Peskind, E., Petersen, R. C., Pierce, A., Poon, W. W., Potter, H., Quinn, J. F., Raj, A., Raskind, M., Reisberg, B., Reisch, J. S., Reitz, C., Ringman, J. M., Roberson, E. D., Rogaeva, E., Rosen, H. J., Rosenberg, R. N., Royall, D. R., Sager, M. A., 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., Thornton-Wells, T. A., Trojanowski, J. Q., Troncoso, J. C., Tsuang, D. W., Van Deerlin, V. M., Van Eldik, L. J., Vardarajan, B. N., Vinters, H. V., Vonsattel, J. P., Weintraub, S., Welsh-Bohmer, K. A., Williamson, J., Wishnek, S., Woltjer, R. L., Wright, C. B., Wu, C. K., Yu, C. E., Yu, L., Thomas, C., Gerrish, A., Chapman, J., Stretton, A., Morgan, A., Oldham, H., Owen, M. J., Kehoe, P. G., Medway, C., Brown, K., Lord, J., Turton, J., Hooper, N. M., Vardy, E., Warren, J. D., Schott, J. M., Uphill, J., Hollingworth, P., Ryan, N., Rossor, M., Collinge, J., Ben-Shlomo, Y., Makrina, D., Gkatzima, O., Lupton, M., Koutroumani, M., Avramidou, D., Germanou, A., Jessen, F., Riedel-Heller, S., Dichgans, M., Heun, R., Kölsch, H., Schürmann, B., Herold, C., Lacour, A., Drichel, D., Hoffmann, P., Kornhuber, J., Gu, W., Feulner, T., Mayhaus, M., Pichler, S., Riemenschneider, M., van den Bussche, H., Lawlor, B., Lynch, A., Mann, D., Smith, A. D., Warden, D., Wilcock, G., Heuser, I., Wiltfang, J., Frölich, L., Hüll, M., Mayo, K., Livingston, G., Bass, N. J., Gurling, H., McQuillin, A., Gwilliam, R., Deloukas, P., Al-Chalabi, A., Shaw, C. E., Singleton, A. B., Guerreiro, R., Russo, G., Jöckel, K. H., Moebus, S., Klopp, N., Wichmann, H. E., Ma, L., Bisceglio, G., Fisher, E., Warner, N., Pickering-Brown, S., Craig, D., Johnston, J. A., McGuinness, B., Todd, S., Rubinsztein, D. C., Lovestone, S., Bayer, A., Gallacher, J., Proitsi, P. & Ortega-Cubero, S., Jan 1 2016, In : Molecular Psychiatry. 21, 1, p. 108-117 10 p.

Research output: Contribution to journalArticle

87 Scopus citations

Assessment of the genetic variance of late-onset Alzheimer's disease

Alzheimer's Disease Genetics Consortium (ADGC), May 1 2016, In : Neurobiology of Aging. 41, p. 200.e13-200.e20

Research output: Contribution to journalArticle

Open Access
25 Scopus citations

Cerebellar Amyloid-β plaques: How frequent are they, and do they influence 18F-Florbetaben SUV ratios?

Catafau, A. M., Bullich, S., Seibyl, J. P., Barthel, H., Ghetti, B., Leverenz, J., Ironside, J. W., Schulz-Schaeffer, W. J., Hoffmann, A. & Sabri, O., Nov 1 2016, In : Journal of Nuclear Medicine. 57, 11, p. 1740-1745 6 p.

Research output: Contribution to journalArticle

24 Scopus citations

Clinicopathological Correlates in a PRNP P102L Mutation Carrier with Rapidly Progressing Parkinsonism-Dystonia

Umeh, C. C., Kalakoti, P., Greenberg, M. K., Notari, S., Cohen, Y., Gambetti, P., Oblak, A. L., Ghetti, B. & Mari, Z., Jul 1 2016, In : Movement Disorders Clinical Practice. 3, 4, p. 355-358 4 p.

Research output: Contribution to journalArticle

2 Scopus citations

Effect of systemic iron overload and a chelation therapy in a mouse model of the neurodegenerative disease hereditary ferritinopathy

Garringer, H., Irimia, J. M., Li, W., Goodwin, C. B., Richine, B., Acton, A., Chan, R., Peacock, M., Muhoberac, B. B., Ghetti, B. & Vidal, R., Aug 1 2016, In : PLoS One. 11, 8, e0161341.

Research output: Contribution to journalArticle

11 Scopus citations

Fulminant corticobasal degeneration: Agrypnia excitata in corticobasal syndrome

Rodriguez-Porcel, F., Lowder, L., Rademakers, R., 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

Gerstmann-Sträussler-Scheinker disease subtypes efficiently transmit in bank voles as genuine prion diseases

Pirisinu, L., Di Bari, M. A., D'Agostino, C., Marcon, S., Riccardi, G., Poleggi, A., Cohen, M. L., Appleby, B. S., Gambetti, P., Ghetti, B., Agrimi, U. & Nonno, R., Feb 4 2016, In : Scientific reports. 6, 20443.

Research output: Contribution to journalArticle

32 Scopus citations

Identification of TMEM230 mutations in familial Parkinson's disease

Deng, H. X., Shi, Y., Yang, Y., Ahmeti, K. B., Miller, N., Huang, C., Cheng, L., Zhai, H., Deng, S., Nuytemans, K., Corbett, N. J., Kim, M. J., Deng, H., Tang, B., Yang, Z., Xu, Y., Chan, P., Huang, B., Gao, X. P., Song, Z. & 14 others, Liu, Z., Fecto, F., Siddique, N., Foroud, T., Jankovic, J., Ghetti, B., Nicholson, D. A., Krainc, D., Melen, O., Vance, J. M., Pericak-Vance, M. A., Ma, Y. C., Rajput, A. H. & Siddique, T., Jul 1 2016, In : Nature genetics. 48, 7, p. 733-739 7 p.

Research output: Contribution to journalArticle

90 Scopus citations

Impact of training method on the robustness of the visual assessment of 18F-florbetaben PET scans: Results from a phase-3 study

Seibyl, J., Catafau, A. M., Barthel, H., Ishii, K., Rowe, C. C., Leverenz, J. B., Ghetti, B., Ironside, J. W., Takao, M., Akatsu, H., Murayama, S., Bullich, S., Mueller, A., Koglin, N., Schulz-Schaeffer, W. J., Hoffmann, A., Sabbagh, M. N., Stephens, A. W. & Sabri, O., Jun 1 2016, In : Journal of Nuclear Medicine. 57, 6, p. 900-906 7 p.

Research output: Contribution to journalArticle

37 Scopus citations
29 Scopus citations

Quantitative Amyloid imaging in autosomal Dominant Alzheimer's disease: Results from the DIAN study group

Su, Y., Blazey, T. M., Owen, C. J., Christensen, J. J., Friedrichsen, K., Joseph-Mathurin, N., Wang, Q., Hornbeck, R. C., Ances, B. M., Snyder, A. Z., Cash, L. A., Koeppe, R. A., Klunk, W. E., Galasko, D., Brickman, A. M., McDade, E., Ringman, J. M., Thompson, P. M., Saykin, A. J., Ghetti, B. & 16 others, Sperling, R. A., Johnson, K. A., Salloway, S. P., Schofield, P. R., Masters, C. L., Villemagne, V. L., Fox, N. C., Förster, S., Chen, K., Reiman, E. M., Xiong, C., Marcus, D. S., Weiner, M. W., Morris, J. C., Bateman, R. J. & Benzinger, T. L. S., Mar 2016, In : PloS one. 11, 3, e0152082.

Research output: Contribution to journalArticle

23 Scopus citations

Rapidly progressive primary progressive aphasia and parkinsonism with novel GRN mutation

Galimberti, D., Cioffi, S. M. G., Fenoglio, C., Serpente, M., Oblak, A. L., Rodriguez-Porcel, F., Oldoni, E., Hagen, M. C., Arcaro, M., Scarpini, E., Ghetti, B. & Espay, A. J., 2016, (Accepted/In press) In : Movement Disorders.

Research output: Contribution to journalArticle

4 Scopus citations

The phosphatase calcineurin regulates pathological TDP-43 phosphorylation

Liachko, N. F., Saxton, A. D., McMillan, P. J., Strovas, T. J., Currey, H. N., Taylor, L. M., Wheeler, J. M., Oblak, A. L., Ghetti, B., Montine, T. J., Keene, C. D., Raskind, M. A., Bird, T. D. & Kraemer, B. C., Oct 1 2016, In : Acta Neuropathologica. 132, 4, p. 545-561 17 p.

Research output: Contribution to journalArticle

19 Scopus citations

White matter hyperintensities are a core feature of Alzheimer's disease: Evidence from the dominantly inherited Alzheimer network

Lee, S., Viqar, F., Zimmerman, M. E., Narkhede, A., Tosto, G., Benzinger, T. L. S., Marcus, D. S., Fagan, A. M., Goate, A., Fox, N. C., Cairns, N. J., Holtzman, D. M., Buckles, V., Ghetti, B., McDade, E., Martins, R. N., Saykin, A. J., Masters, C. L., Ringman, J. M., Ryan, N. S. & 12 others, Förster, S., Laske, C., Schofield, P. R., Sperling, R. A., Salloway, S., Correia, S., Jack, C., Weiner, M., Bateman, R. J., Morris, J. C., Mayeux, R. & Brickman, A. M., Jun 1 2016, In : Annals of neurology. 79, 6, p. 929-939 11 p.

Research output: Contribution to journalArticle

118 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

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

Neuronal NLRP1 inflammasome activation of Caspase-1 coordinately regulates inflammatory interleukin-1-beta production and axonal degeneration-associated Caspase-6 activation

Kaushal, V., Dye, R., Pakavathkumar, P., Foveau, B., Flores, J., Hyman, B., Ghetti, B., Koller, B. H. & LeBlanc, A. C., Oct 9 2015, In : Cell Death and Differentiation. 22, 10, p. 1676-1686 11 p.

Research output: Contribution to journalArticle

91 Scopus citations

Neuropathologic assessment of participants in two multi-center longitudinal observational studies: The Alzheimer Disease Neuroimaging Initiative (ADNI) and the Dominantly Inherited Alzheimer Network (DIAN)

the Alzheimer Disease Neuroimaging Initiative and the Dominantly Inherited Alzheimer Network, Aug 1 2015, In : Neuropathology. 35, 4, p. 390-400 11 p.

Research output: Contribution to journalArticle

28 Scopus citations

PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease

Beecham, G. W., Dickson, D. W., Scott, W. K., Martin, E. R., Schellenberg, G., Nuytemans, K., Larson, E. B., Buxbaum, J. D., Trojanowski, J. Q., Van Deerlin, V. M., Hurtig, H. I., Mash, D. C., Beach, T. G., Troncoso, J. C., Pletnikova, O., Frosch, M. P., Ghetti, B., Foroud, T. M., Honig, L. S., Marder, K. & 12 others, Vonsattel, J. P., Goldman, S. M., Vinters, H. V., Ross, O. A., Wszolek, Z. K., Wang, L., Dykxhoorn, D. M., Pericak-Vance, M. A., Montine, T. J., Leverenz, J. B., Dawson, T. M. & Vance, J. M., Mar 10 2015, In : Neurology. 84, 10, p. 972-980 9 p.

Research output: Contribution to journalArticle

28 Scopus citations

Partial volume correction in quantitative amyloid imaging

Dominantly Inherited Alzheimer Network, Feb 5 2015, In : NeuroImage. 107, p. 55-64 10 p.

Research output: Contribution to journalArticle

81 Scopus citations

Protective variant for hippocampal atrophy identified by whole exome sequencing

Nho, K., Kim, S., Risacher, S. L., Shen, L., Corneveaux, J. J., Swaminathan, S., Lin, H., Ramanan, V. K., Liu, Y., Foroud, T. M., 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. L. & 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., Mar 1 2015, In : Annals of neurology. 77, 3, p. 547-552 6 p.

Research output: Contribution to journalArticle

35 Scopus citations

Rarity of the alzheimer disease-protective APP A673T variant in the United States

National Institute on Aging-Late-Onset Alzheimer's Disease (NIA-LOAD) Family Study & Alzheimer's Disease Genetics Consortium, Feb 1 2015, In : JAMA Neurology. 72, 2, p. 209-216 8 p.

Research output: Contribution to journalArticle

21 Scopus citations

Systemic and cerebral iron homeostasis in ferritin knock-out Mice

Li, W., Garringer, H. J., Goodwin, C. B., Richine, B., Acton, A., VanDuyn, N., Muhoberac, B. B., Irimia-Dominguez, J., Chan, R. J., Peacock, M., Nass, R., Ghetti, B. & Vidal, R., Jan 28 2015, In : PloS one. 10, 1, e0117435.

Research output: Contribution to journalArticle

24 Scopus citations

Visualization of regional tau deposits using (3)H-THK5117 in Alzheimer brain tissue

Lemoine, L., Saint-Aubert, L., Marutle, A., Antoni, G., Eriksson, J. P., Ghetti, B., Okamura, N., Nennesmo, I., Gillberg, P. G. & Nordberg, A., Jul 2 2015, In : Acta Neuropathologica Communications. 3, 1 p.

Research output: Contribution to journalArticle

38 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