Bernardino Ghetti

  • 32255 Citations
  • 88 h-Index
1967 …2020

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2014

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
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
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
2011

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

Naj, A. C., Jun, G., Beecham, G. W., Wang, L. S., Vardarajan, B. N., Buros, J., Gallins, P. J., Buxbaum, J. D., Jarvik, G. P., Crane, P. K., Larson, E. B., Bird, T. D., Boeve, B. F., Graff-Radford, N. R., De Jager, P. L., Evans, D., Schneider, J. A., Carrasquillo, M. M., Ertekin-Taner, N., Younkin, S. G. & 135 others, Cruchaga, C., Kauwe, J. S. K., Nowotny, P., Kramer, P., Hardy, J., Huentelman, M. J., Myers, A. J., Barmada, M. M., Demirci, F. Y., Baldwin, C. T., Green, R. C., Rogaeva, E., George-Hyslop, P. S., Arnold, S. E., Barber, R., Beach, T., Bigio, E. H., Bowen, J. D., Boxer, A., Burke, J. R., Cairns, N. J., Carlson, C. S., Carney, R. M., Carroll, S. L., Chui, H. C., Clark, D. G., Corneveaux, J., Cotman, C. W., Cummings, J. L., Decarli, C., Dekosky, S. T., Diaz-Arrastia, R., Dick, M., Dickson, D. W., Ellis, W. G., Faber, K. M., Fallon, K. B., Farlow, M. R., Ferris, S., Frosch, M. P., Galasko, D. R., Ganguli, M., Gearing, M., Geschwind, D. H., Ghetti, B., Gilbert, J. R., Gilman, S., Giordani, B., Glass, J. D., Growdon, J. H., Hamilton, R. L., Harrell, L. E., Head, E., Honig, L. S., Hulette, C. M., Hyman, B. T., Jicha, G. A., Jin, L. W., Johnson, N., Karlawish, J., Karydas, A., Kaye, J. A., Kim, R., Koo, E. H., Kowall, N. W., Lah, J. J., Levey, A. I., Lieberman, A. P., Lopez, O. L., 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., Parisi, J. E., Perl, D. P., Peskind, E., Petersen, R. C., Poon, W. W., Quinn, J. F., Rajbhandary, R. A., Raskind, M., Reisberg, B., Ringman, J. M., Roberson, E. D., Rosenberg, R. N., Sano, M., Schneider, L. S., Seeley, W., Shelanski, M. L., Slifer, M. A., Smith, C. D., Sonnen, J. A., Spina, S., Stern, R. A., Tanzi, R. E., Trojanowski, J. Q., Troncoso, J. C., Van Deerlin, V. M., Vinters, H. V., Vonsattel, J. P., Weintraub, S., Welsh-Bohmer, K. A., Williamson, J., Woltjer, R. L., Cantwell, L. B., Dombroski, B. A., Beekly, D., Lunetta, K. L., Martin, E. R., Kamboh, M. I., Saykin, A. J., Reiman, E. M., Bennett, D. A., Morris, J. C., Montine, T. J., Goate, A. M., Blacker, D., Tsuang, D. W., Hakonarson, H., Kukull, W. A., Foroud, T. M., Haines, J. L., Mayeux, R., Pericak-Vance, M. A., Farrer, L. A. & Schellenberg, G. D., May 1 2011, In : Nature genetics. 43, 5, p. 436-443 8 p.

Research output: Contribution to journalArticle

1143 Scopus citations

Encephalopathy with neuroserpin inclusion bodies presenting as progressive myoclonus epilepsy and associated with a novel mutation in the Proteinase Inhibitor 12 gene

Hagen, M. C., Murrell, J. R., Delisle, M. B., Andermann, E., Andermann, F., Guiot, M. C. & Ghetti, B., Sep 1 2011, In : Brain Pathology. 21, 5, p. 575-582 8 p.

Research output: Contribution to journalArticle

30 Scopus citations

Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype

Jayadev, S., Nochlin, D., Poorkaj, P., Steinbart, E. J., Mastrianni, J. A., Montine, T. J., Ghetti, B., Schellenberg, G. D., Bird, T. D. & Leverenz, J. B., Mar 1 2011, In : Annals of Neurology. 69, 4, p. 712-720 9 p.

Research output: Contribution to journalArticle

53 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

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
2010

Abnormal iron metabolism in fibroblasts from a patient with the neurodegenerative disease hereditary ferritinopathy

Barbeito, A. G., Levade, T., Delisle, M. B., Ghetti, B. & Vidal, R., Nov 12 2010, In : Molecular Neurodegeneration. 5, 1, 50.

Research output: Contribution to journalArticle

19 Scopus citations

Agent strain variation in human prion disease: Insights from a molecular and pathological review of the National Institutes of Health series of experimentally transmitted disease

Parchi, P., Cescatti, M., Notari, S., Schulz-Schaeffer, W. J., Capellari, S., Giese, A., Zou, W. Q., Kretzschmar, H., Ghetti, B. & Brown, P., Oct 2010, In : Brain. 133, 10, p. 3030-3042 13 p.

Research output: Contribution to journalArticle

54 Scopus citations

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

Van Deerlin, V. M., Sleiman, P. M. A., Martinez-Lage, M., Chen-Plotkin, A., Wang, L. S., Graff-Radford, N. R., Dickson, D. W., Rademakers, R., Boeve, B. F., Grossman, M., Arnold, S. E., Mann, D. M. A., Pickering-Brown, S. M., Seelaar, H., Heutink, P., Van Swieten, J. C., Murrell, J. R., Ghetti, B., Spina, S., Grafman, J. & 80 others, Hodges, J., Spillantini, M. G., Gilman, S., Lieberman, A. P., Kaye, J. A., Woltjer, R. L., Bigio, E. H., Mesulam, M., Al-Sarraj, S., Troakes, C., Rosenberg, R. N., White, C. L., Ferrer, I., Lladó, A., Neumann, M., Kretzschmar, H. A., Hulette, C. M., Welsh-Bohmer, K. A., Miller, B. L., Alzualde, A., De Munain, A. L., McKee, A. C., Gearing, M., Levey, A. I., Lah, J. J., Hardy, J., Rohrer, J. D., Lashley, T., MacKenzie, I. R. A., Feldman, H. H., Hamilton, R. L., Dekosky, S. T., Van Der Zee, J., Kumar-Singh, S., Van Broeckhoven, C., Mayeux, R., Vonsattel, J. P. G., Troncoso, J. C., Kril, J. J., Kwok, J. B. J., Halliday, G. M., Bird, T. D., Ince, P. G., Shaw, P. J., Cairns, N. J., Morris, J. C., McLean, C. A., Decarli, C., Ellis, W. G., Freeman, S. H., Frosch, M. P., Growdon, J. H., Perl, D. P., Sano, M., Bennett, D. A., Schneider, J. A., Beach, T. G., Reiman, E. M., Woodruff, B. K., Cummings, J., Vinters, H. V., Miller, C. A., Chui, H. C., Alafuzoff, I., Hartikainen, P., Seilhean, D., Galasko, D., Masliah, E., Cotman, C. W., Tũón, M. T., Martínez, M. C. C., Munoz, D. G., Carroll, S. L., Marson, D., Riederer, P. F., Bogdanovic, N., Schellenberg, G. D., Hakonarson, H., Trojanowski, J. Q. & Lee, V. M. Y., Mar 1 2010, In : Nature genetics. 42, 3, p. 234-239 6 p.

Research output: Contribution to journalArticle

295 Scopus citations

Neocortical variation of Aβ load in fully expressed, pure Alzheimer's disease

Cupidi, C., Capobianco, R., Goffredo, D., Marcon, G., Ghetti, B., Bugiani, O., Tagliavini, F. & Giaccone, G., 2010, In : Journal of Alzheimer's Disease. 19, 1, p. 57-68 12 p.

Research output: Contribution to journalArticle

13 Scopus citations

Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: An update

MacKenzie, I. R. A., Neumann, M., Bigio, E. H., Cairns, N. J., Alafuzoff, I., Kril, J., Kovacs, G. G., Ghetti, B., Halliday, G., Holm, I. E., Ince, P. G., Kamphorst, W., Revesz, T., Rozemuller, A. J. M., Kumar-Singh, S., Akiyama, H., Baborie, A., Spina, S., Dickson, D. W., Trojanowski, J. Q. & 1 others, Mann, D. M. A., Jan 1 2010, In : Acta Neuropathologica. 119, 1, p. 1-4 4 p.

Research output: Contribution to journalArticle

588 Scopus citations

PET of brain prion protein amyloid in Gerstmann-Sträussler-Scheinker disease

Kepe, V., Ghetti, B., Farlow, M. R., Bresjanac, M., Miller, K., Huang, S. C., Wong, K. P., Murrell, J. R., Piccardo, P., Epperson, F., Repovš, G., Smid, L. M., Petrič, A., Siddarth, P., Liu, J., Satyamurthy, N., Small, G. W. & Barrio, J. R., Mar 1 2010, In : Brain Pathology. 20, 2, p. 419-430 12 p.

Research output: Contribution to journalArticle

46 Scopus citations

SNARE protein redistribution and synaptic failure in a transgenic mouse model of Parkinson's disease

Garcia-Reitböck, P., Anichtchik, O., Bellucci, A., Iovino, M., Ballini, C., Fineberg, E., Ghetti, B., Della Corte, L., Spano, P., Tofaris, G. K., Goedert, M. & Spillantini, M. G., Jul 2010, In : Brain. 133, 7, p. 2032-2044 13 p.

Research output: Contribution to journalArticle

158 Scopus citations
2009

Abnormal iron metabolism and oxidative stress in mice expressing a mutant form of the ferritin light polypeptide gene

Barbeito, A. G., Garringer, H. J., Baraibar, M. A., Gao, X., Arredondo, M., Núñez, M. T., Smith, M. A., Ghetti, B. & Vidal, R., May 1 2009, In : Journal of Neurochemistry. 109, 4, p. 1067-1078 12 p.

Research output: Contribution to journalArticle

57 Scopus citations

Association of ideomotor apraxia with frontal gray matter volume loss in corticobasal syndrome

Huey, E. D., Pardini, M., Cavanagh, A., Wassermann, E. M., Kapogiannis, D., Spina, S., Ghetti, B. & Grafman, J., Nov 27 2009, In : Archives of Neurology. 66, 10, p. 1274-1280 7 p.

Research output: Contribution to journalArticle

21 Scopus citations

Caspase-6 activation in familial alzheimer disease brains carrying amyloid precursor protein or presenilin i or presenilin II mutations

Albrecht, S., Bogdanovic, N., Ghetti, B., Winblad, B. & Leblanc, A. C., Dec 1 2009, In : Journal of Neuropathology and Experimental Neurology. 68, 12, p. 1282-1293 12 p.

Research output: Contribution to journalArticle

43 Scopus citations

Cerebral amyloid angiopathy and parenchymal amyloid deposition in transgenic mice expressing the Danish mutant form of human BRI2

Vidal, R., Barbeito, A. G., Miravalle, L. & Ghetti, B., Jan 1 2009, In : Brain Pathology. 19, 1, p. 58-68 11 p.

Research output: Contribution to journalArticle

36 Scopus citations

Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498-499InsTC)

Ory-Magne, F., Brefel-Courbon, C., Payoux, P., Debruxelles, S., Sibon, I., Goizet, C., Labauge, P., Menegon, P., Uro-Coste, E., Ghetti, B., Delisle, M. B., Vidal, R. & Rascol, O., Aug 15 2009, In : Movement Disorders. 24, 11, p. 1676-1683 8 p.

Research output: Contribution to journalArticle

21 Scopus citations

Failure to detect the presence of prions in the uterine and gestational tissues from a gravida with Creutzfeldt-Jakob disease

Xiao, X., Miravalle, L., Yuan, J., McGeehan, J., Dong, Z., Wyza, R., MacLennan, G. T., Golichowski, A. M., Kneale, G., King, N., Kong, Q., Spina, S., Vidal, R., Ghetti, B., Roos, K., Gambetti, P. & Zou, W. Q., May 2009, In : American Journal of Pathology. 174, 5, p. 1602-1608 7 p.

Research output: Contribution to journalArticle

15 Scopus citations

Incidence and spectrum of sporadic Creutzfeldt-Jakob disease variants with mixed phenotype and co-occurrence of PrPSc types: An updated classification

Parchi, P., Strammiello, R., Notari, S., Giese, A., Langeveld, J. P. M., Ladogana, A., Zerr, I., Roncaroli, F., Cras, P., Ghetti, B., Pocchiari, M., Kretzschmar, H. & Capellari, S., Nov 1 2009, In : Acta Neuropathologica. 118, 5, p. 659-671 13 p.

Research output: Contribution to journalArticle

149 Scopus citations

Mutant presenilin 1 increases the expression and activity of BACE1

Giliberto, L., Borghi, R., Piccini, A., Mangerini, R., Sorbi, S., Cirmena, G., Garuti, A., Ghetti, B., Tagliavini, F., Mughal, M. R., Mattson, M. P., Zhu, X., Wang, X., Guglielmotto, M., Tamagno, E. & Tabaton, M., Apr 3 2009, In : Journal of Biological Chemistry. 284, 14, p. 9027-9038 12 p.

Research output: Contribution to journalArticle

36 Scopus citations

Old age before cognitive impairment

Ghetti, B., Aug 1 2009, In : Current Alzheimer research. 6, 4, 1 p.

Research output: Contribution to journalArticle

1 Scopus citations

Regional differences in the vulnerability of substantia nigra dopaminergic neurons in weaver mice

Martí, J., Santa-Cruz, M. C., Molina, V., Serra, R., Bayer, S. A., Ghetti, B. & Hervás, J. P., Dec 1 2009, In : Acta Neurobiologiae Experimentalis. 69, 2, p. 198-206 9 p.

Research output: Contribution to journalArticle

3 Scopus citations