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  • Bernardino Ghetti
2016

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
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

457 Scopus citations
2019

Serum neurofilament dynamics predicts neurodegeneration and clinical progression in presymptomatic Alzheimer’s disease

Dominantly Inherited Alzheimer Network, Feb 1 2019, In : Nature Medicine. 25, 2, p. 277-283 7 p.

Research output: Contribution to journalArticle

92 Scopus citations
2018

Rapid and ultra-sensitive quantitation of disease-associated α-synuclein seeds in brain and cerebrospinal fluid by αSyn RT-QuIC

Groveman, B. R., Orrù, C. D., Hughson, A. G., Raymond, L. D., Zanusso, G., Ghetti, B., Campbell, K. J., Safar, J., Galasko, D. & Caughey, B., Jan 1 2018, In : Acta Neuropathologica Communications. 6, 7.

Research output: Contribution to journalArticle

58 Scopus citations
2016

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
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

58 Scopus citations

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

13 Scopus citations
2016

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
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, 1 p.

Research output: Contribution to journalArticle

Open Access
4 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 journalLetter

140 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

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
2019

Dysregulation of TDP-43 intracellular localization and early onset ALS are associated with a TARDBP S375G variant

Newell, K., Paron, F., Mompean, M., Murrell, J., Salis, E., Stuani, C., Pattee, G., Romano, M., Laurents, D., Ghetti, B. & Buratti, E., May 2019, In : Brain Pathology. 29, 3, p. 397-413 17 p.

Research output: Contribution to journalArticle

3 Scopus citations

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
7 Scopus citations
2020

Correction to: 4-Repeat tau seeds and templating subtypes as brain and CSF biomarkers of frontotemporal lobar degeneration (Acta Neuropathologica, (2020), 139, 1, (63-77), 10.1007/s00401-019-02080-2)

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. 79-81 3 p.

Research output: Contribution to journalComment/debate

Open Access
2017

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
2016

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
2017

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
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., 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

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
2019

Structure-based inhibitors halt prion-like seeding by Alzheimer's disease-and tauopathy-derived brain tissue samples

Seidler, P. M., Boyer, D. R., Murray, K. A., Yang, T. P., Bentzel, M., Sawaya, M. R., Rosenberg, G., Cascio, D., Williams, C. K., Newell, K. L., Ghetti, B., DeTure, M. A., Dickson, D. W., Vinters, H. V. & Eisenberg, D. S., Nov 1 2019, In : Journal of Biological Chemistry. 294, 44, p. 16451-16464 14 p.

Research output: Contribution to journalArticle

Open Access
1 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. Elsevier B.V., p. 243-269 27 p. (Handbook of Clinical Neurology; vol. 153).

Research output: Chapter in Book/Report/Conference proceedingChapter

6 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
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

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

14 Scopus citations
2016

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
2019

FDG-PET patterns associated with underlying pathology in corticobasal syndrome

Pardini, M., Huey, E. D., Spina, S., Kreisl, W. C., Morbelli, S., Wassermann, E. M., Nobili, F., Ghetti, B. & Grafman, J., Mar 5 2019, In : Neurology. 92, 10, p. E1121-E1135

Research output: Contribution to journalArticle

7 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

32 Scopus citations
2019

α-Synuclein RT-QuIC assay in cerebrospinal fluid of patients with dementia with Lewy bodies

Bongianni, M., Ladogana, A., Capaldi, S., Klotz, S., Baiardi, S., Cagnin, A., Perra, D., Fiorini, M., Poleggi, A., Legname, G., Cattaruzza, T., Janes, F., Tabaton, M., Ghetti, B., Monaco, S., Kovacs, G. G., Parchi, P., Pocchiari, M. & Zanusso, G., Oct 1 2019, In : Annals of Clinical and Translational Neurology. 6, 10, p. 2120-2126 7 p.

Research output: Contribution to journalArticle

Open Access
7 Scopus citations
2016

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
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., Jan 1 2019, In : Journal of Neuropathology and Experimental Neurology. 78, 7, p. 585-594 10 p.

Research output: Contribution to journalArticle

2 Scopus citations

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

8 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
2019

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, 1 p.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

Luminescent conjugated oligothiophenes distinguish between α-synuclein assemblies of Parkinson's disease and multiple system atrophy

Klingstedt, T., Ghetti, B., Holton, J. L., Ling, H., Nilsson, K. P. R. & Goedert, M., Dec 3 2019, In : Acta Neuropathologica Communications. 7, 1, 193.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations
2020

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

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

13 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

Seeding selectivity and ultrasensitive detection of tau aggregate conformers of Alzheimer disease

Kraus, A., Saijo, E., Metrick, M. A., Newell, K., Sigurdson, C. J., Zanusso, G., Ghetti, B. & Caughey, B., Apr 1 2019, In : Acta Neuropathologica. 137, 4, p. 585-598 14 p.

Research output: Contribution to journalArticle

16 Scopus citations
2018

Distinct conformers of assembled tau in Alzheimer’s and Pick’s diseases

Goedert, M., Falcon, B., Zhang, W., Ghetti, B. & Scheres, S. H. W., Jan 1 2018, In : Cold Spring Harbor Symposia on Quantitative Biology. 83, p. 163-171 9 p.

Research output: Contribution to journalArticle

Open Access
7 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

8 Scopus citations

α-Synuclein filaments from transgenic mouse and human synucleinopathy-containing brains are major seed-competent species

Morgan, S. A., Lavenir, I., Fan, J., Masuda-Suzukake, M., Passarella, D., DeTure, M. A., Dickson, D. W., Bernardino Ghetti, X. & Goedert, M., May 8 2020, In : Journal of Biological Chemistry. 295, 19, p. 6652-6664 13 p.

Research output: Contribution to journalArticle

Open Access
2019

Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (Nature Genetics, (2019), 51, 3, (414-430), 10.1038/s41588-019-0358-2)

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), Sep 1 2019, In : Nature genetics. 51, 9, p. 1423-1424 2 p.

Research output: Contribution to journalComment/debate

Open Access
2018

Sex-specific association of apolipoprotein e with cerebrospinal fluid levels of tau

Alzheimer's Disease Genetics Consortium and the Alzheimer's Disease Neuroimaging Initiative, Aug 1 2018, In : JAMA Neurology. 75, 8, p. 989-998 10 p.

Research output: Contribution to journalArticle

39 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

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
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

44 Scopus citations
2018

Sex-specific genetic predictors of Alzheimer’s disease biomarkers

Alzheimer’s Disease Neuroimaging Initiative (ADNI) & The Alzheimer Disease Genetics Consortium (Adgc), Dec 1 2018, In : Acta Neuropathologica. 136, 6, p. 857-872 16 p.

Research output: Contribution to journalArticle

16 Scopus citations
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

13 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