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  • Bernardino Ghetti
2017

Amyloid polymorphisms constitute distinct clouds of conformational variants in different etiological subtypes of Alzheimer’s disease

Rasmussen, J., Mahler, J., Beschorner, N., Kaeser, S. A., Häsler, L. M., Baumann, F., Nyström, S., Portelius, E., Blennow, K., Lashley, T., Fox, N. C., Sepulveda-Falla, D., Glatzel, M., Oblak, A. L., Ghetti, B., Nilsson, K. P. R., Hammarström, P., Staufenbiel, M., Walker, L. C. & Jucker, M., Dec 5 2017, In : Proceedings of the National Academy of Sciences of the United States of America. 114, 49, p. 13018-13023 6 p.

Research output: Contribution to journalArticle

62 Scopus citations
2018

Molecular subtypes of Alzheimer's disease

Di Fede, G., Catania, M., Maderna, E., Ghidoni, R., Benussi, L., Tonoli, E., Giaccone, G., Moda, F., Paterlini, A., Campagnani, I., Sorrentino, S., Colombo, L., Kubis, A., Bistaffa, E., Ghetti, B. & Tagliavini, F., Dec 1 2018, In : Scientific reports. 8, 1, 3269.

Research output: Contribution to journalArticle

16 Scopus citations
2017

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
2020

Neurodegeneration-Associated Proteins in Human Olfactory Neurons Collected by Nasal Brushing

Brozzetti, L., Sacchetto, L., Cecchini, M. P., Avesani, A., Perra, D., Bongianni, M., Portioli, C., Scupoli, M., Ghetti, B., Monaco, S., Buffelli, M. & Zanusso, G., Mar 5 2020, In : Frontiers in Neuroscience. 14, 145.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations
2016

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

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

Research output: Contribution to journalArticle

11 Scopus citations
2020

Structures of α-synuclein filaments from multiple system atrophy

Schweighauser, M., Shi, Y., Tarutani, A., Kametani, F., Murzin, A. G., Ghetti, B., Matsubara, T., Tomita, T., Ando, T., Hasegawa, K., Murayama, S., Yoshida, M., Hasegawa, M., Scheres, S. H. W. & Goedert, M., Jan 1 2020, (Accepted/In press) In : Nature.

Research output: Contribution to journalArticle

4 Scopus citations

Awareness of genetic risk in the Dominantly Inherited Alzheimer Network (DIAN)

Dominantly Inherited Alzheimer Network, Jan 1 2020, In : Alzheimer's and Dementia. 16, 1, p. 219-228 10 p.

Research output: Contribution to journalArticle

Open Access
2018

Living Neurons with Tau Filaments Aberrantly Expose Phosphatidylserine and Are Phagocytosed by Microglia

Brelstaff, J., Tolkovsky, A. M., Ghetti, B., Goedert, M. & Spillantini, M. G., Aug 21 2018, In : Cell Reports. 24, 8, p. 1939-1948.e4

Research output: Contribution to journalArticle

26 Scopus citations
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

8 Scopus citations
2020

Amyloid and Tau Pathology Associations With Personality Traits, Neuropsychiatric Symptoms, and Cognitive Lifestyle in the Preclinical Phases of Sporadic and Autosomal Dominant Alzheimer's Disease

Dominantly Inherited Alzheimer Network (DIAN) & PREVENT-AD Research Group, 2020, (Accepted/In press) In : Biological psychiatry.

Research output: Contribution to journalArticle

1 Scopus citations
2019

Late to the part-y

Josephs, K. A., Mackenzie, I., Frosch, M. P., Bigio, E. H., Neumann, M., Arai, T., Dugger, B. N., Ghetti, B., Grossman, M., Hasegawa, M., Herrup, K., Holton, J., Jellinger, K., Lashley, T., McAleese, K. E., Parisi, J. E., Revesz, T., Saito, Y., Vonsattel, J. P., Whitwell, J. L. & 2 others, Wisniewski, T. & Hu, W., Sep 1 2019, In : Brain. 142, 9, p. 1-5 5 p.

Research output: Contribution to journalLetter

Open Access
7 Scopus citations

An atlas of cortical circular RNA expression in Alzheimer disease brains demonstrates clinical and pathological associations

the Dominantly Inherited Alzheimer Network (DIAN), Nov 1 2019, In : Nature Neuroscience. 22, 11, p. 1903-1912 10 p.

Research output: Contribution to journalArticle

22 Scopus citations
2018

Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network

Karch, C. M., Hernández, D., Wang, J. C., Marsh, J., Hewitt, A. W., Hsu, S., Norton, J., Levitch, D., Donahue, T., Sigurdson, W., Ghetti, B., Farlow, M., Chhatwal, J., Berman, S., Cruchaga, C., Morris, J. C., Bateman, R. J., Pébay, A. & Goate, A. M., Jul 25 2018, In : Alzheimer's Research and Therapy. 10, 1, 69.

Research output: Contribution to journalArticle

5 Scopus citations

Preferential degradation of cognitive networks differentiates Alzheimer's disease from ageing

Chhatwal, J. P., Schultz, A. P., Johnson, K. A., Hedden, T., Jaimes, S., Benzinger, T. L. S., Jack, C., Ances, B. M., Ringman, J. M., Marcus, D. S., Ghetti, B., Farlow, M. R., Danek, A., Levin, J., Yakushev, I., Laske, C., Koeppe, R. A., Galasko, D. R., Xiong, C., Masters, C. L. & 10 others, Schofield, P. R., Kinnunen, K. M., Salloway, S., Martins, R. N., McDade, E., Cairns, N. J., Buckles, V. D., Morris, J. C., Bateman, R. & Sperling, R. A., May 1 2018, In : Brain. 141, 5, p. 1486-1500 15 p.

Research output: Contribution to journalArticle

14 Scopus citations
2020

A soluble phosphorylated tau signature links tau, amyloid and the evolution of stages of dominantly inherited Alzheimer’s disease

the Dominantly Inherited Alzheimer Network, Mar 1 2020, In : Nature Medicine. 26, 3, p. 398-407 10 p.

Research output: Contribution to journalArticle

6 Scopus citations
2019

Seizures as an early symptom of autosomal dominant Alzheimer's disease

Dominantly Inherited Alzheimer Network, Apr 2019, In : Neurobiology of Aging. 76, p. 18-23 6 p.

Research output: Contribution to journalArticle

9 Scopus citations
2018

Relationship between physical activity, cognition, and Alzheimer pathology in autosomal dominant Alzheimer's disease

Dominantly Inherited Alzheimer Network (DIAN), Nov 2018, In : Alzheimer's and Dementia. 14, 11, p. 1427-1437 11 p.

Research output: Contribution to journalArticle

14 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

167 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

93 Scopus citations
2017

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

45 Scopus citations
2016

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

24 Scopus citations
2018

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

Pottier, C., Zhou, X., Perkerson, R. B., Baker, M., Jenkins, G. D., Serie, D. J., Ghidoni, R., Benussi, L., Binetti, G., López de Munain, A., Zulaica, M., Moreno, F., Le Ber, I., Pasquier, F., Hannequin, D., Sánchez-Valle, R., Antonell, A., Lladó, A., Parsons, T. M., Finch, N. C. A. & 113 others, Finger, E. C., Lippa, C. F., Huey, E. D., Neumann, M., Heutink, P., Synofzik, M., Wilke, C., Rissman, R. A., Slawek, J., Sitek, E., Johannsen, P., Nielsen, J. E., Ren, Y., van Blitterswijk, M., DeJesus-Hernandez, M., Christopher, E., Murray, M. E., Bieniek, K. F., Evers, B. M., Ferrari, C., Rollinson, S., Richardson, A., Scarpini, E., Fumagalli, G. G., Padovani, A., Hardy, J., Momeni, P., Ferrari, R., Frangipane, F., Maletta, R., Anfossi, M., Gallo, M., Petrucelli, L., Suh, E. R., Lopez, O. L., Wong, T. H., van Rooij, J. G. J., Seelaar, H., Mead, S., Caselli, R. J., Reiman, E. M., Noel Sabbagh, M., Kjolby, M., Nykjaer, A., Karydas, A. M., Boxer, A. L., Grinberg, L. T., Grafman, J., Spina, S., Oblak, A., Mesulam, M. M., Weintraub, S., Geula, C., Hodges, J. R., Piguet, O., Brooks, W. S., Irwin, D. J., Trojanowski, J. Q., Lee, E. B., Josephs, K. A., Parisi, J. E., Ertekin-Taner, N., Knopman, D. S., Nacmias, B., Piaceri, I., Bagnoli, S., Sorbi, S., Gearing, M., Glass, J., Beach, T. G., Black, S. E., Masellis, M., Rogaeva, E., Vonsattel, J. P., Honig, L. S., Kofler, J., Bruni, A. C., Snowden, J., Mann, D., Pickering-Brown, S., Diehl-Schmid, J., Winkelmann, J., Galimberti, D., Graff, C., Öijerstedt, L., Troakes, C., Al-Sarraj, S., Cruchaga, C., Cairns, N. J., Rohrer, J. D., Halliday, G. M., Kwok, J. B., van Swieten, J. C., White, C. L., Ghetti, B., Murell, J. R., Mackenzie, I. R. A., Hsiung, G. Y. R., Borroni, B., Rossi, G., Tagliavini, F., Wszolek, Z. K., Petersen, R. C., Bigio, E. H., Grossman, M., Van Deerlin, V. M., Seeley, W. W., Miller, B. L., Graff-Radford, N. R., Boeve, B. F., Dickson, D. W., Biernacka, J. M. & Rademakers, R., Jun 2018, In : The Lancet Neurology. 17, 6, p. 548-558 11 p.

Research output: Contribution to journalArticle

29 Scopus citations
2019

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Alzheimer Disease Genetics Consortium (ADGC), The European Alzheimer’s Disease Initiative (EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE), & Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES), Mar 1 2019, In : Nature genetics. 51, 3, p. 414-430 17 p.

Research output: Contribution to journalArticle

190 Scopus citations
2016

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. M., 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

89 Scopus citations
2019

Million-fold sensitivity enhancement in proteopathic seed amplification assays for biospecimens by Hofmeister ion comparisons

Metrick, M. A., do Carmo Ferreira, N., Saijo, E., Hughson, A. G., Kraus, A., Orrú, C., Miller, M. W., Zanusso, G., Ghetti, B., Vendruscolo, M. & Caughey, B., Nov 12 2019, In : Proceedings of the National Academy of Sciences of the United States of America. 116, 46, p. 23029-23039 11 p.

Research output: Contribution to journalArticle

Open Access
8 Scopus citations

Silver staining (Campbell-Switzer) of neuronal α-synuclein assemblies induced by multiple system atrophy and Parkinson's disease brain extracts in transgenic mice

Lavenir, I., Passarella, D., Masuda-Suzukake, M., Curry, A., Holton, J. L., Ghetti, B. & Goedert, M., Sep 16 2019, In : Acta Neuropathologica Communications. 7, 1, p. 148 1 p.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations
2016

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
2018

Structures of filaments from Pick’s disease reveal a novel tau protein fold

Falcon, B., Zhang, W., Murzin, A. G., Murshudov, G., Garringer, H. J., Vidal, R., Crowther, R. A., Ghetti, B., Scheres, S. H. W. & Goedert, M., Sep 6 2018, In : Nature. 561, 7721, p. 137-140 4 p.

Research output: Contribution to journalArticle

151 Scopus citations
2020

4-Repeat tau seeds and templating subtypes as brain and CSF biomarkers of frontotemporal lobar degeneration

Saijo, E., Metrick, M. A., Koga, S., Parchi, P., Litvan, I., Spina, S., Boxer, A., Rojas, J. C., Galasko, D., Kraus, A., Rossi, M., Newell, K., Zanusso, G., Grinberg, L. T., Seeley, W. W., Ghetti, B., Dickson, D. W. & Caughey, B., Jan 1 2020, In : Acta Neuropathologica. 139, 1, p. 63-77 15 p.

Research output: Contribution to journalArticle

10 Scopus citations
2017

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

41 Scopus citations

Amyloid and intracellular accumulation of BRI2

Garringer, H., Sammeta, N., Oblak, A., Ghetti, B. & Vidal, R., Apr 1 2017, In : Neurobiology of Aging. 52, p. 90-97 8 p.

Research output: Contribution to journalArticle

3 Scopus citations
2018

Dominantly inherited prion protein cerebral amyloidoses – a modern view of Gerstmann–Sträussler–Scheinker

Ghetti, B., Piccardo, P. & Zanusso, G., Jan 1 2018, Handbook of Clinical Neurology. Pocchiari, M. & Manson, J. (eds.). Elsevier B.V., p. 243-269 27 p. (Handbook of Clinical Neurology; vol. 153).

Research output: Chapter in Book/Report/Conference proceedingChapter

8 Scopus citations
2017

Cryo-EM structures of tau filaments from Alzheimer's disease

Fitzpatrick, A. W. P., Falcon, B., He, S., Murzin, A. G., Murshudov, G., Garringer, H. J., Crowther, R. A., Ghetti, B., Goedert, M. & Scheres, S. H. W., Jul 13 2017, In : Nature. 547, 7662, p. 185-190 6 p.

Research output: Contribution to journalArticle

492 Scopus citations
2018

Pathological phosphorylation of tau and TDP-43 by TTBK1 and TTBK2 drives neurodegeneration

Taylor, L. M., McMillan, P. J., Liachko, N. F., Strovas, T. J., Ghetti, B., Bird, T. D., Dirk Keene, C. & Kraemer, B. C., Feb 6 2018, In : Molecular Neurodegeneration. 13, 1, 7.

Research output: Contribution to journalArticle

11 Scopus citations
2020

Crystal structure of a conformational antibody that binds tau oligomers and inhibits pathological seeding by extracts from donors with Alzheimer's disease

Abskharon, R., Seidler, P. M., Sawaya, M. R., Cascio, D., Yang, T. P., Philipp, S., Williams, C. K., Newell, K. L., Ghetti, B., DeTure, M. A., Dickson, D. W., Vinters, H. V., Felgner, P. L., Nakajima, R., Glabe, C. G. & Eisenberg, D. S., Jul 31 2020, In : The Journal of biological chemistry. 295, 31, p. 10662-10676 15 p.

Research output: Contribution to journalArticle

2019

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

Pottier, C., Ren, Y., Perkerson, R. B., Baker, M., Jenkins, G. D., van Blitterswijk, M., DeJesus-Hernandez, M., van Rooij, J. G. J., Murray, M. E., Christopher, E., McDonnell, S. K., Fogarty, Z., Batzler, A., Tian, S., Vicente, C. T., Matchett, B., Karydas, A. M., Hsiung, G. Y. R., Seelaar, H., Mol, M. O. & 85 others, Finger, E. C., Graff, C., Öijerstedt, L., Neumann, M., Heutink, P., Synofzik, M., Wilke, C., Prudlo, J., Rizzu, P., Simon-Sanchez, J., Edbauer, D., Roeber, S., Diehl-Schmid, J., Evers, B. M., King, A., Mesulam, M. M., Weintraub, S., Geula, C., Bieniek, K. F., Petrucelli, L., Ahern, G. L., Reiman, E. M., Woodruff, B. K., Caselli, R. J., Huey, E. D., Farlow, M. R., Grafman, J., Mead, S., Grinberg, L. T., Spina, S., Grossman, M., Irwin, D. J., Lee, E. B., Suh, E. R., Snowden, J., Mann, D., Ertekin-Taner, N., Uitti, R. J., Wszolek, Z. K., Josephs, K. A., Parisi, J. E., Knopman, D. S., Petersen, R. C., Hodges, J. R., Piguet, O., Geier, E. G., Yokoyama, J. S., Rissman, R. A., Rogaeva, E., Keith, J., Zinman, L., Tartaglia, M. C., Cairns, N. J., Cruchaga, C., Ghetti, B., Kofler, J., Lopez, O. L., Beach, T. G., Arzberger, T., Herms, J., Honig, L. S., Vonsattel, J. P., Halliday, G. M., Kwok, J. B., White, C. L., Gearing, M., Glass, J., Rollinson, S., Pickering-Brown, S., Rohrer, J. D., Trojanowski, J. Q., Van Deerlin, V., Bigio, E. H., Troakes, C., Al-Sarraj, S., Asmann, Y., Miller, B. L., Graff-Radford, N. R., Boeve, B. F., Seeley, W. W., Mackenzie, I. R. A., van Swieten, J. C., Dickson, D. W., Biernacka, J. M. & Rademakers, R., Jun 1 2019, In : Acta Neuropathologica. 137, 6, p. 879-899 21 p.

Research output: Contribution to journalArticle

16 Scopus citations
2018

Longitudinal cognitive and biomarker changes in dominantly inherited Alzheimer disease

McDade, E., Wang, G., Gordon, B. A., Hassenstab, J., Benzinger, T. L. S., Buckles, V., Fagan, A. M., Holtzman, D. M., Cairns, N. J., Goate, A. M., Marcus, D. S., Morris, J. C., Paumier, K., Xiong, C., Allegri, R., Berman, S. B., Klunk, W., Noble, J., Ringman, J., Ghetti, B. & 12 others, Farlow, M., Sperling, R. A., Chhatwal, J., Salloway, S., Graff-Radford, N. R., Schofield, P. R., Masters, C., Rossor, M. N., Fox, N. C., Levin, J., Jucker, M. & Bateman, R. J., Oct 2 2018, In : Neurology. 91, 14, p. E1295-E1306

Research output: Contribution to journalArticle

37 Scopus citations
2019

Clinical, pathophysiological and genetic features of motor symptoms in autosomal dominant Alzheimer's disease

Vöglein, J., Paumier, K., Jucker, M., Preische, O., McDade, E., Hassenstab, J., Benzinger, T. L., Noble, J. M., Berman, S. B., Graff-Radford, N. R., Ghetti, B., Farlow, M. R., Chhatwal, J., Salloway, S., Xiong, C., Karch, C. M., Cairns, N., Mori, H., Schofield, P. R., Masters, C. L. & 16 others, Goate, A., Buckles, V., Fox, N., Rossor, M., Chrem, P., Allegri, R., Ringman, J. M., Höglinger, G., Steiner, H., Dieterich, M., Haass, C., Laske, C., Morris, J. C., Bateman, R. J., Danek, A. & Levin, J., 2019, In : Brain. 142, 5, p. 1429-1440 12 p., awz050.

Research output: Contribution to journalArticle

3 Scopus citations
2016

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
2019

Diffuse Lewy body disease and Alzheimer disease: Neuropathologic phenotype associated with the PSEN1 p.A396T mutation

Gondim, D. D., Oblak, A., Murrell, J. R., Richardson, R., Epperson, F., Ross, O. A. & Ghetti, B., 2019, In : Journal of Neuropathology and Experimental Neurology. 78, 7, p. 585-594 10 p.

Research output: Contribution to journalArticle

2 Scopus citations

C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy

Cali, C. P., Patino, M., Tai, Y. K., Ho, W. Y., McLean, C. A., Morris, C. M., Seeley, W. W., Miller, B. L., Gaig, C., Vonsattel, J. P. G., White, C. L., Roeber, S., Kretzschmar, H., Troncoso, J. C., Troakes, C., Gearing, M., Ghetti, B., Van Deerlin, V. M., Lee, V. M. Y., Trojanowski, J. Q. & 6 others, Mok, K. Y., Ling, H., Dickson, D. W., Schellenberg, G. D., Ling, S. C. & Lee, E. B., Nov 1 2019, In : Acta Neuropathologica. 138, 5, p. 795-811 17 p.

Research output: Contribution to journalArticle

5 Scopus citations
2016

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

34 Scopus citations
2019

Erratum: LATE to the PART-y (Brain (2019) 142 (e47) DOI: 10.1093/brain/awz224)

Josephs, K. A., Mackenzie, I., Frosch, M. P., Bigio, E. H., Neumann, M., Arai, T., Dugger, B. N., Ghetti, B., Grossman, M., Hasegawa, M., Herrup, K., Holton, J., Jellinger, K., Lashley, T., McAleese, K. E., Parisi, J. E., Revesz, T., Saito, Y., Vonsattel, J. P., Whitwell, J. L. & 2 others, Wisniewski, T. & Hu, W., Dec 1 2019, In : Brain. 142, 12, p. E73

Research output: Contribution to journalComment/debate

Open Access
2017

Decreased body mass index in the preclinical stage of autosomal dominant Alzheimer's disease

Müller, S., Preische, O., Sohrabi, H. R., Gräber, S., Jucker, M., Dietzsch, J., Ringman, J. M., Martins, R. N., McDade, E., Schofield, P. R., Ghetti, B., Rossor, M., Graff-Radford, N. R., Levin, J., Galasko, D., Quaid, K. A., Salloway, S., Xiong, C., Benzinger, T., Buckles, V. & 5 others, Masters, C. L., Sperling, R., Bateman, R. J., Morris, J. C. & Laske, C., Dec 1 2017, In : Scientific reports. 7, 1, 1225.

Research output: Contribution to journalArticle

15 Scopus citations
2019

Gerstmann-Sträussler-Scheinker disease revisited: accumulation of covalently-linked multimers of internal prion protein fragments

Cracco, L., Xiao, X., Nemani, S. K., Lavrich, J., Cali, I., Ghetti, B., Notari, S., Surewicz, W. K. & Gambetti, P., May 29 2019, In : Acta Neuropathologica Communications. 7, 1, p. 85 1 p.

Research output: Contribution to journalArticle

Open Access
7 Scopus citations
2020

Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study

The Alzheimer’s Disease Genetics Consortium, Dec 1 2020, In : Nature communications. 11, 1, 667.

Research output: Contribution to journalArticle

Open Access
11 Scopus citations
2016

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

35 Scopus citations
2018

Presymptomatic atrophy in autosomal dominant Alzheimer's disease: A serial magnetic resonance imaging study

for the & Dominantly Inherited Alzheimer Network (DIAN), Jan 2018, In : Alzheimer's and Dementia. 14, 1, p. 43-53 11 p.

Research output: Contribution to journalArticle

16 Scopus citations
2016

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