Bernardino Ghetti

  • 32255 Citations
  • 88 h-Index
1967 …2020

Research output per year

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Publications

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2006

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

221 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
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

146 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

169 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
2008

Aggregated, wild-type prion protein causes neurological dysfunction and synaptic abnormalities

Chiesa, R., Piccardo, P., Biasini, E., Ghetti, B. & Harris, D. A., Dec 3 2008, In : Journal of Neuroscience. 28, 49, p. 13258-13267 10 p.

Research output: Contribution to journalArticle

51 Scopus citations

Analysis of tau phosphorylation and truncation in a mouse model of human tauopathy

Delobel, P., Lavenir, I., Fraser, G., Ingram, E., Holzer, M., Ghetti, B., Spillantini, M. G., Crowther, R. A. & Goedert, M., Jan 2008, In : American Journal of Pathology. 172, 1, p. 123-131 9 p.

Research output: Contribution to journalArticle

82 Scopus citations

Characterization of truncated forms of abnormal prion protein in Creutzfeldt-Jakob disease

Notari, S., Strammiello, R., Capellari, S., Giese, A., Cescatti, M., Grassi, J., Ghetti, B., Langeveld, J. P. M., Zou, W. Q., Gambetti, P., Kretzschmar, H. A. & Parchi, P., Nov 7 2008, In : Journal of Biological Chemistry. 283, 45, p. 30557-30565 9 p.

Research output: Contribution to journalArticle

63 Scopus citations

Detection of filamentous tau inclusions by the fluorescent Congo red derivative FSB [(trans,trans)-1-fluoro-2,5-bis(3-hydroxycarbonyl-4-hydroxy)styrylbenzene]

Velasco, A., Fraser, G., Delobel, P., Ghetti, B., Lavenir, I. & Goedert, M., Mar 19 2008, In : FEBS Letters. 582, 6, p. 901-906 6 p.

Research output: Contribution to journalArticle

28 Scopus citations

Expression of a mutant form of the ferritin light chain gene induces neurodegeneration and iron overload in transgenic mice

Vidal, R., Miravalle, L., Gao, X., Barbeito, A. G., Baraibar, M. A., Hekmatyar, S. K., Widel, M., Bansal, N., Delisle, M. B. & Ghetti, B., Jan 2 2008, In : Journal of Neuroscience. 28, 1, p. 60-67 8 p.

Research output: Contribution to journalArticle

81 Scopus citations

Histopathological and molecular heterogeneity among individuals with dementia associated with Presenilin mutations

Maarouf, C. L., Daugs, I. D., Spina, S., Vidal, R., Kokjohn, T. A., Patton, R. L., Kalback, W. M., Luehrs, D. C., Walker, D. G., Castaño, E. M., Beach, T. G., Ghetti, B. & Roher, A. E., Dec 22 2008, In : Molecular Neurodegeneration. 3, 1, 20.

Research output: Contribution to journalArticle

31 Scopus citations

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

55 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

92 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

TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea

Kovacs, G. G., Murrell, J. R., Horvath, S., Haraszti, L., Majtenyi, K., Molnar, M. J., Budka, H., Ghetti, B. & Spina, S., Sep 15 2009, In : Movement Disorders. 24, 12, p. 1843-1847 5 p.

Research output: Contribution to journalArticle

132 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
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