Bernardino Ghetti

  • 31420 Citations
  • 86 h-Index
1967 …2021

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2008

In vivo and postmortem clinicoanatomical correlations in frontotemporal dementia and parkinsonism linked to chromosome 17

Ghetti, B., Spina, S., Murrell, J. R., Huey, E. D., Pietrini, P., Sweeney, B., Wassermann, E. M., Keohane, C., Farlow, M. R. & Grafman, J., Mar 1 2008, In : Neurodegenerative Diseases. 5, 3-4, p. 215-217 3 p.

Research output: Contribution to journalArticle

25 Scopus citations

The tauopathy associated with mutation +3 in intron 10 of Tau: Characterization of the MSTD family

Spina, S., Farlow, M. R., Unverzagt, F. W., Kareken, D. A., Murrell, J. R., Fraser, G., Epperson, F., Crowther, R. A., Spillantini, M. G., Goedert, M. & Ghetti, B., Jan 2008, In : Brain. 131, 1, p. 72-89 18 p.

Research output: Contribution to journalArticle

53 Scopus citations

White matter tauopathy with globular glial inclusions: A distinct sporadic frontotemporal lobar segeneration

Kovacs, G. G., Majtenyi, K., Spina, S., Murrell, J. R., Gelpi, E., Hoftberger, R., Fraser, G., Crowther, R. A., Goedert, M., Budka, H. & Ghetti, B., Oct 1 2008, In : Journal of Neuropathology and Experimental Neurology. 67, 10, p. 963-975 13 p.

Research output: Contribution to journalArticle

89 Scopus citations
2007

Accumulation of prion protein in the brain that is not associated with transmissible disease

Piccardo, P., Manson, J. C., King, D., Ghetti, B. & Barron, R. M., Mar 13 2007, In : Proceedings of the National Academy of Sciences of the United States of America. 104, 11, p. 4712-4717 6 p.

Research output: Contribution to journalArticle

145 Scopus citations

Alois Alzheimer: His life and times

Goedert, M. & Ghetti, B., Jan 1 2007, In : Brain Pathology. 17, 1, p. 57-62 6 p.

Research output: Contribution to journalArticle

31 Scopus citations

Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation

Baba, Y., Baker, M. C., Le Ber, I., Brice, A., Maeck, L., Kohlhase, J., Yasuda, M., Stoppe, G., Bugiani, O., Sperfeld, A. D., Tsuboi, Y., Uitti, R. J., Farrer, M. J., Ghetti, B., Hutton, M. L. & Wszolek, Z. K., Jul 1 2007, In : Journal of Neural Transmission. 114, 7, p. 947-950 4 p.

Research output: Contribution to journalArticle

19 Scopus citations

Clinicopathologic features of frontotemporal dementia with Progranulin sequence variation

Spina, S., Murrell, J. R., Huey, E. D., Wassermann, E. M., Pietrini, P., Baraibar, M. A., Barbeito, A. G., Troncoso, J. C., Vidal, R., Ghetti, B. & Grafman, J., Mar 2007, In : Neurology. 68, 11, p. 820-827 8 p.

Research output: Contribution to journalArticle

62 Scopus citations

Corticobasal syndrome associated with the A9D Progranulin mutation

Spina, S., Murrell, J. R., Huey, E. D., Wassermann, E. M., Pietrini, P., Grafman, J. & Ghetti, B., Oct 1 2007, In : Journal of Neuropathology and Experimental Neurology. 66, 10, p. 892-900 9 p.

Research output: Contribution to journalArticle

72 Scopus citations

Generation and survival of midbrain dopaminergic neurons in weaver mice

Martí, J., Santa-Cruz, M. C., Bayer, S. A., Ghetti, B. & Hervás, J. P., Aug 1 2007, In : International Journal of Developmental Neuroscience. 25, 5, p. 299-307 9 p.

Research output: Contribution to journalArticle

9 Scopus citations

Increase in the relative expression of tau with four microtubule binding repeat regions in frontotemporal lobar degeneration and progressive supranuclear palsy brains

Ingelsson, M., Ramasamy, K., Russ, C., Freeman, S. H., Orne, J., Raju, S., Matsui, T., Growdon, J. H., Frosch, M. P., Ghetti, B., Brown, R. H., Irizarry, M. C. & Hyman, B. T., Nov 1 2007, In : Acta Neuropathologica. 114, 5, p. 471-479 9 p.

Research output: Contribution to journalArticle

25 Scopus citations

Performance on MMSE sub-items and education level in presenilin-1 mutation carriers without dementia

Ringman, J. M., Rodriguez, Y., Diaz-Olavarrieta, C., Chavez, M., Thompson, M., Fairbanks, L., Paz, F., Varpetian, A., Chaparro, H., Macias-Islas, M. A., Murrell, J., Ghetti, B. & Kawas, C., Apr 1 2007, In : International Psychogeriatrics. 19, 2, p. 323-332 10 p.

Research output: Contribution to journalArticle

3 Scopus citations

Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C→T (Arg493X) mutation: an international initiative

Rademakers, R., Baker, M., Gass, J., Adamson, J., Huey, E. D., Momeni, P., Spina, S., Coppola, G., Karydas, A. M., Stewart, H., Johnson, N., Hsiung, G. Y., Kelley, B., Kuntz, K., Steinbart, E., Wood, E. M. C., Yu, C. E., Josephs, K., Sorenson, E., Womack, K. B. & 30 others, Weintraub, S., Pickering-Brown, S. M., Schofield, P. R., Brooks, W. S., Van Deerlin, V. M., Snowden, J., Clark, C. M., Kertesz, A., Boylan, K., Ghetti, B., Neary, D., Schellenberg, G. D., Beach, T. G., Mesulam, M., Mann, D., Grafman, J., Mackenzie, I. R., Feldman, H., Bird, T., Petersen, R., Knopman, D., Boeve, B., Geschwind, D. H., Miller, B., Wszolek, Z., Lippa, C., Bigio, E. H., Dickson, D., Graff-Radford, N. & Hutton, M., Oct 2007, In : Lancet Neurology. 6, 10, p. 857-868 12 p.

Research output: Contribution to journalArticle

168 Scopus citations

Prion protein with an octapeptide insertion has impaired neuroprotective activity in transgenic mice

Li, A., Piccardo, P., Barmada, S. J., Ghetti, B. & Harris, D. A., Jun 6 2007, In : EMBO Journal. 26, 11, p. 2777-2785 9 p.

Research output: Contribution to journalArticle

28 Scopus citations

Purkinje cell age-distribution in fissures and in foliar crowns: A comparative study in the weaver cerebellum

Martí, J., Santa-Cruz, M. C., Bayer, S. A., Ghetti, B. & Hervás, J. P., Dec 1 2007, In : Brain Structure and Function. 212, 3-4, p. 347-357 11 p.

Research output: Contribution to journalArticle

9 Scopus citations

Symposium: Tau protein and neurodegeneration

Ghetti, B. & Goedert, M., Jan 1 2007, In : Brain Pathology. 17, 1, 1 p.

Research output: Contribution to journalArticle

The genetics of very early onset Alzheimer disease

Filley, C. M., Rollins, Y. D., Alan Anderson, C., Arciniegas, D. B., Howard, K. L., Murrell, J. R., Boyer, P. J., Kleinschmidt-DeMasters, B. K. & Ghetti, B., Sep 1 2007, In : Cognitive and Behavioral Neurology. 20, 3, p. 149-156 8 p.

Research output: Contribution to journalArticle

34 Scopus citations

The novel Tau mutation G335S: Clinical, neuropathological and molecular characterization

Spina, S., Murrell, J. R., Yoshida, H., Ghetti, B., Bermingham, N., Sweeney, B., Dlouhy, S. R., Crowther, R. A., Goedert, M. & Keohane, C., Apr 1 2007, In : Acta Neuropathologica. 113, 4, p. 461-470 10 p.

Research output: Contribution to journalArticle

24 Scopus citations

The ε isoform of 14-3-3 protein is a component of the prion protein amyloid deposits of Gerstmann-Sträussler-Scheinker disease

Di Fede, G., Giaccone, G., Limido, L., Mangieri, M., Suardi, S., Puoti, G., Morbin, M., Mazzoleni, G., Ghetti, B. & Tagliavini, F., Feb 1 2007, In : Journal of Neuropathology and Experimental Neurology. 66, 2, p. 124-130 7 p.

Research output: Contribution to journalArticle

13 Scopus citations
2006

Aberrantly regulated proteins in frontotemporal dementia

Schweitzer, K., Decker, E., Zhu, L., Miller, R. E., Mirra, S. S., Spina, S., Ghetti, B., Wang, M. & Murrell, J., Sep 22 2006, In : Biochemical and Biophysical Research Communications. 348, 2, p. 465-472 8 p.

Research output: Contribution to journalArticle

11 Scopus citations

Aβ42-driven cerebral amyloidosis in transgenic mice reveals early and robust pathology

Radde, R., Bolmont, T., Kaeser, S. A., Coomaraswamy, J., Lindau, D., Stoltze, L., Calhoun, M. E., Jäggi, F., Wolburg, H., Gengler, S., Haass, C., Ghetti, B., Czech, C., Hölscher, C., Mathews, P. M. & Jucker, M., Sep 1 2006, In : EMBO Reports. 7, 9, p. 940-946 7 p.

Research output: Contribution to journalArticle

428 Scopus citations

Cell-cycle markers in a transgenic mouse model of human tauopathy: Increased levels of cyclin-dependent kinase inhibitors p21Cip1 and p27Kip1

Delobel, P., Lavenir, I., Ghetti, B., Holzer, M. & Goedert, M., Mar 2006, In : American Journal of Pathology. 168, 3, p. 878-887 10 p.

Research output: Contribution to journalArticle

29 Scopus citations

Characteristics of frontotemporal dementia patients with a Progranulin mutation

Huey, E. D., Grafman, J., Wassermann, E. M., Pietrini, P., Tierney, M. C., Ghetti, B., Spina, S., Baker, M., Hutton, M., Elder, J. W., Berger, S. L., Heflin, K. A., Hardy, J. & Momeni, P., Sep 1 2006, In : Annals of Neurology. 60, 3, p. 374-380 7 p.

Research output: Contribution to journalArticle

68 Scopus citations

Comparison of extent of tau pathology in patients with frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17), frontotemporal lobar degeneration with Pick bodies and early onset Alzheimer's disease

Shiarli, A. M., Jennings, R., Shi, J., Bailey, K., Davidson, Y., Tian, J., Bigio, E. H., Ghetti, B., Murrell, J. R., Delisle, M. B., Mirra, S., Crain, B., Zolo, P., Arima, K., Iseki, E., Murayama, S., Kretzschmar, H., Neumann, M., Lippa, C., Halliday, G. & 8 others, MacKenzie, J., Khan, N., Ravid, R., Dickson, D., Wszolek, Z., Iwatsubo, T., Pickering-Brown, S. M. & Mann, D. M. A., Aug 1 2006, In : Neuropathology and Applied Neurobiology. 32, 4, p. 374-387 14 p.

Research output: Contribution to journalArticle

22 Scopus citations

Gerstmann-Sträussler-Scheinker: A new phenotype with 'curly' PrP deposits

Colucci, M., Moleres, F. J., Xie, Z. L., Ray-Chaudhury, A., Gutti, S., Butefisch, C. M., Cervenakova, L., Wang, W., Goldfarb, L. G., Kong, Q., Ghetti, B., Chen, S. G. & Gambetti, P., Jul 1 2006, In : Journal of Neuropathology and Experimental Neurology. 65, 7, p. 642-651 10 p.

Research output: Contribution to journalArticle

29 Scopus citations

Hereditary diffuse leukoencephalopathy with spheroids: Clinical, pathologic and genetic studies of a new kindred

Baba, Y., Ghetti, B., Baker, M. C., Uitti, R. J., Hutton, M. L., Yamaguchi, K., Bird, T., Lin, W., DeLucia, M. W., Dickson, D. W. & Wszolek, Z. K., Apr 1 2006, In : Acta Neuropathologica. 111, 4, p. 300-311 12 p.

Research output: Contribution to journalArticle

70 Scopus citations

Mutations in the tau gene (MAPT) in FTDP-17: The family with Multiple System Tauopathy with Presenile Dementia (MSTD)

Spillantini, M. G., Murrell, J. R., Goedert, M., Farlow, M., Klug, A. & Ghetti, B., 2006, In : Journal of Alzheimer's Disease. 9, SUPPL. 3, p. 373-380 8 p.

Research output: Contribution to journalArticle

Pathological changes in dopaminergic nerve cells of the substantia nigra and olfactory bulb in mice transgenic for truncated human α-synuclein(1- 120): Implications for lewy body disorders

Tofaris, G. K., Reitböck, P. G., Humby, T., Lambourne, S. L., O'Connell, M., Ghetti, B., Gossage, H., Emson, P. C., Wilkinson, L. S., Goedert, M. & Spillantini, M. G., Sep 7 2006, In : Journal of Neuroscience. 26, 15, p. 3942-3950 9 p.

Research output: Contribution to journalArticle

219 Scopus citations

Pathologic prion protein is specifically recognized in situ by a novel PrP conformational antibody

Moroncini, G., Mangieri, M., Morbin, M., Mazzoleni, G., Ghetti, B., Gabrielli, A., Williamson, R. A., Giaccone, G. & Tagliavini, F., Sep 1 2006, In : Neurobiology of Disease. 23, 3, p. 717-724 8 p.

Research output: Contribution to journalArticle

22 Scopus citations

The A431E mutation in PSEN1 causing Familial Alzheimer's Disease originating in Jalisco State, Mexico: An additional fifteen families

Murrell, J., Ghetti, B., Cochran, E., Macias-Islas, M. A., Medina, L., Varpetian, A., Cummings, J. L., Mendez, M. F., Kawas, C., Chui, H. & Ringman, J. M., Nov 1 2006, In : Neurogenetics. 7, 4, p. 277-279 3 p.

Research output: Contribution to journalArticle

34 Scopus citations
2005

Abundant neuritic inclusions and microvacuolar changes in a case of diffuse Lewy body disease with the A53T mutation in the α-synuclein gene

Yamaguchi, K., Cochran, E. J., Murrell, J. R., Polymeropoulos, M. H., Shannon, K. M., Crowther, R. A., Goedert, M. & Ghetti, B., Sep 1 2005, In : Acta Neuropathologica. 110, 3, p. 298-305 8 p.

Research output: Contribution to journalArticle

43 Scopus citations

Altered APP processing in PDAPP (Val717 → Phe) transgenic mice yields extended-length Aβ peptides

Esh, C., Patton, L., Kalback, W., Kokjohn, T. A., Lopez, J., Brune, D., Newell, A. J., Beach, T., Schenk, D., Games, D., Paul, S., Bales, K., Ghetti, B., Castaño, E. M. & Roher, A. E., Oct 25 2005, In : Biochemistry. 44, 42, p. 13807-13819 13 p.

Research output: Contribution to journalArticle

27 Scopus citations

Amino-terminally truncated Aβ peptide species are the main component of cotton wool plaques

Miravalle, L., Calero, M., Takao, M., Roher, A. E., Ghetti, B. & Vidal, R., Aug 16 2005, In : Biochemistry. 44, 32, p. 10810-10821 12 p.

Research output: Contribution to journalArticle

113 Scopus citations

Bax deletion prevents neuronal loss but not neurological symptoms in a transgenic model of inherited prion disease

Chiesa, R., Piccardo, P., Dossena, S., Nowoslawski, L., Roth, K. A., Ghetti, B. & Harris, D. A., Jan 4 2005, In : Proceedings of the National Academy of Sciences of the United States of America. 102, 1, p. 238-243 6 p.

Research output: Contribution to journalArticle

77 Scopus citations

Characterization of the F198S prion protein mutation: Enhanced glycosylation and defective refolding

Zaidi, S. I. A., Richardson, S. L., Capellari, S., Song, L., Smith, M. A., Ghetti, B., Sy, M. S., Gambetti, P. & Petersen, R. B., Jan 1 2005, In : Journal of Alzheimer's Disease. 7, 2, p. 159-171 13 p.

Research output: Contribution to journalArticle

17 Scopus citations

Chitin-like polysaccharides in Alzheimer's disease brains

Castellani, R. J., Siedlak, S. L., Fortino, A. E., Perry, G., Ghetti, B. & Smith, M. A., Oct 1 2005, In : Current Alzheimer research. 2, 4, p. 419-423 5 p.

Research output: Contribution to journalArticle

30 Scopus citations

Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation

Boeve, B. F., Tremont-Lukats, I. W., Waclawik, A. J., Murrell, J. R., Hermann, B., Jack, C. R., Shiung, M. M., Smith, G. E., Nair, A. R., Lindor, N., Koppikar, V. & Ghetti, B., Apr 2005, In : Brain. 128, 4, p. 752-772 21 p.

Research output: Contribution to journalArticle

48 Scopus citations

Neurodegenerative illness in transgenic mice expressing a transmembrane form of the prion protein

Stewart, R. S., Piccardo, P., Ghetti, B. & Harris, D. A., Mar 30 2005, In : Journal of Neuroscience. 25, 13, p. 3469-3477 9 p.

Research output: Contribution to journalArticle

50 Scopus citations

Neuropsychological function in nondemented carriers of presenilin-1 mutations

Ringman, J. M., Diaz-Olavarrieta, C., Rodriguez, Y., Chavez, M., Fairbanks, L., Paz, F., Varpetian, A., Maldonado, H. C., Macias-Islas, M. A., Murrell, J., Ghetti, B. & Kawas, C., Aug 23 2005, In : Neurology. 65, 4, p. 552-558 7 p.

Research output: Contribution to journalArticle

20 Scopus citations

Recognition: Robert Terry

Ghetti, B., Jul 1 2005, In : Alzheimer's and Dementia. 1, 1, 1 p.

Research output: Contribution to journalArticle

Redox metals and oxidative abnormalities in human prion diseases

Petersen, R. B., Siedlak, S. L., Lee, H. G., Kim, Y. S., Nunomura, A., Tagliavini, F., Ghetti, B., Cras, P., Moreira, P. I., Castellani, R. J., Guentchev, M., Budka, H., Ironside, J. W., Gambetti, P., Smith, M. A. & Perry, G., Sep 1 2005, In : Acta Neuropathologica. 110, 3, p. 232-238 7 p.

Research output: Contribution to journalArticle

54 Scopus citations

Slow wave and REM sleep mechanisms are differently altered in hereditary pick disease associated with the Tau G389R mutation

Gemignani, A., Pietrini, P., Murrell, J. R., Glazier, B. S., Zolo, P., Guazzelli, M. & Ghetti, B., Feb 1 2005, In : Archives Italiennes de Biologie. 143, 1, p. 65-79 15 p.

Research output: Contribution to journalArticle

11 Scopus citations

The Effect of tau genotype on clinical features in FTDP-17

Baba, Y., Tsuboi, Y., Baker, M. C., Uitti, R. J., Hutton, M. L., Dickson, D. W., Farrer, M., Putzke, J. D., Woodruff, B. K., Ghetti, B., Murrell, J. R., Boeve, B. F., Petersen, R. C., Verpillat, P., Brice, A., Delisle, M. B., Rascol, O., Arima, K., Dysken, M. W., Yasuda, M. & 11 others, Kobayashi, T., Sunohara, N., Komure, O., Kuno, S., Sperfeld, A. D., Stoppe, G., Kohlhase, J., Pickering-Brown, S., Neary, D., Bugiani, O. & Wszolek, Z. K., Jun 1 2005, In : Parkinsonism and Related Disorders. 11, 4, p. 205-208 4 p.

Research output: Contribution to journalArticle

31 Scopus citations
2004

Early-onset dementia with Lewy bodies

Takao, M., Ghetti, B., Yoshida, H., Piccardo, P., Narain, Y., Murrell, J. R., Vidal, R., Glazier, B. S., Jakes, R., Tsutsui, M., Spillantini, M. G., Crowther, R. A., Goedert, M. & Koto, A., Apr 2004, In : Brain Pathology. 14, 2, p. 137-147 11 p.

Research output: Contribution to journalArticle

20 Scopus citations

Effects of different experimental conditions on the PrPSc core generated by protease digestion: Implications for strain typing and molecular classification of CJD

Notari, S., Capellari, S., Giese, A., Westner, I., Baruzzi, A., Ghetti, B., Gambetti, P., Kretzschmar, H. A. & Parchi, P., Apr 16 2004, In : Journal of Biological Chemistry. 279, 16, p. 16797-16804 8 p.

Research output: Contribution to journalArticle

110 Scopus citations

GFP-tagged prion protein is correctly localized and functionally active in the brains of transgenic mice

Barmada, S., Piccardo, P., Yamaguchi, K., Ghetti, B. & Harris, D. A., Aug 1 2004, In : Neurobiology of Disease. 16, 3, p. 527-537 11 p.

Research output: Contribution to journalArticle

47 Scopus citations

Intracellular Ferritin Accumulation in Neural and Extraneural Tissue Characterizes A Neurodegenerative Disease Associated with A Mutation in the Ferritin Light Polypeptide Gene

Vidal, R., Ghetti, B., Takao, M., Brefel-Courbon, C., Uro-Coste, E., Glazier, B. S., Siani, V., Benson, M. D., Calvas, P., Miravalle, L., Rascol, O. & Delisle, M. B., Apr 2004, In : Journal of Neuropathology and Experimental Neurology. 63, 4, p. 363-380 18 p.

Research output: Contribution to journalArticle

Open Access
125 Scopus citations

Soluble amyloid β-protein is increased in frontotemporal dementia with tau gene mutations

Vitali, A., Piccini, A., Borghi, R., Fornaro, P., Siedlak, S. L., Smith, M. A., Gambetti, P., Ghetti, B. & Tabaton, M., Feb 2004, In : Journal of Alzheimer's Disease. 6, 1, p. 45-51 7 p.

Research output: Contribution to journalArticle

13 Scopus citations

The Human Amyloid-β Precursor Protein770 Mutation V717F Generates Peptides Longer Than Amyloid-β-(40-42) and Flocculent Amyloid Aggregates

Roher, A. E., Kokjohn, T. A., Esh, C., Weiss, N., Childress, J., Kalback, W., Luehrs, D. C., Lopez, J., Brune, D., Kuo, Y. M., Farlow, M., Murrell, J., Vidal, R. & Ghetti, B., Feb 13 2004, In : Journal of Biological Chemistry. 279, 7, p. 5829-5836 8 p.

Research output: Contribution to journalArticle

24 Scopus citations
2003

A novel leukoencephalopathy associated with tau deposits primarily in white matter glia

Powers, J. M., Byrne, N. P., Ito, M., Takao, M., Yankopoulou, D., Spillantini, M. G. & Ghetti, B., Aug 2 2003, In : Acta Neuropathologica. 106, 2, p. 181-187 7 p.

Research output: Contribution to journalArticle

28 Scopus citations

Hereditary ferritinopathy

Vidal, R., Delisle, M. B., Rascol, O. & Ghetti, B., Mar 15 2003, In : Journal of the Neurological Sciences. 207, 1-2, p. 110-111 2 p.

Research output: Contribution to journalArticle

32 Scopus citations