Bernardino Ghetti

  • 30218 Citations
  • 83 h-Index
1967 …2021
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Publications 1967 2019

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2009
53 Citations (Scopus)

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

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

Research output: Contribution to journalArticle

Oxidative stress
Apoferritins
Ferritins
Metabolism
Oxidative Stress
20 Citations (Scopus)

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., 2009, In : Archives of Neurology. 66, 10, p. 1274-1280 7 p.

Research output: Contribution to journalArticle

Ideomotor Apraxia
Apraxias
Motor Cortex
Gray Matter
Apraxia
42 Citations (Scopus)

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 2009, In : Journal of Neuropathology and Experimental Neurology. 68, 12, p. 1282-1293 12 p.

Research output: Contribution to journalArticle

Caspase 6
Presenilins
Amyloid beta-Protein Precursor
Alzheimer Disease
Mutation
35 Citations (Scopus)

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 2009, In : Brain Pathology. 19, 1, p. 58-68 11 p.

Research output: Contribution to journalArticle

Cerebral Amyloid Angiopathy
Amyloid
Transgenic Mice
Grooming
Cerebellar Ataxia
20 Citations (Scopus)

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

Neuroimaging
Iron
Fluorodeoxyglucose F18
Dyskinesias
Tremor
14 Citations (Scopus)

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

Creutzfeldt-Jakob Syndrome
Prions
Prion Diseases
Amniotic Fluid
Placenta
137 Citations (Scopus)

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 2009, In : Acta Neuropathologica. 118, 5, p. 659-671 13 p.

Research output: Contribution to journalArticle

Kuru
Phenotype
Molecular Typing
Incidence
Valine
35 Citations (Scopus)

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

Presenilin-1
Amyloid beta-Protein Precursor
Alzheimer Disease
Amyloid Precursor Protein Secretases
Mutation
294 Citations (Scopus)

Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: Consensus recommendations

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., 2009, In : Acta Neuropathologica. 117, 1, p. 15-18 4 p.

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
tau Proteins
Inclusion Bodies
DNA-Binding Proteins
Terminology
1 Citation (Scopus)

Old age before cognitive impairment

Ghetti, B., Aug 2009, In : Current Alzheimer Research. 6, 4, p. 323 1 p.

Research output: Contribution to journalArticle

Cognition Disorders
Memory Disorders
Cognitive Dysfunction
3 Citations (Scopus)

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., 2009, In : Acta Neurobiologiae Experimentalis. 69, 2, p. 198-206 9 p.

Research output: Contribution to journalArticle

Neurologic Mutant Mice
Dopaminergic Neurons
Substantia Nigra
Cell Death
Tyrosine 3-Monooxygenase
127 Citations (Scopus)

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

Frontotemporal Dementia
Chorea
Amyotrophic Lateral Sclerosis
Paralysis
Frontotemporal Lobar Degeneration
2010
18 Citations (Scopus)

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., 2010, In : Molecular Neurodegeneration. 5, 1, 50.

Research output: Contribution to journalArticle

Neurodegenerative Diseases
Iron
Fibroblasts
Ferritins
Peptides
53 Citations (Scopus)

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., 2010, In : Brain. 133, 10, p. 3030-3042 13 p.

Research output: Contribution to journalArticle

Prion Diseases
Prions
National Institutes of Health (U.S.)
Kuru
Creutzfeldt-Jakob Syndrome
284 Citations (Scopus)

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 2010, In : Nature Genetics. 42, 3, p. 234-239 6 p.

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
Single Nucleotide Polymorphism
Mutation
Genome-Wide Association Study
Linkage Disequilibrium
Caspase 6
Presenilins
Amyloid beta-Protein Precursor
Neurology
Alzheimer Disease
22 Citations (Scopus)

Modeling familial British and Danish dementia

Garringer, H., Murrell, J., D'Adamio, L., Ghetti, B. & Vidal, R., Mar 2010, In : Brain Structure and Function. 214, 2-3, p. 235-244 10 p.

Research output: Contribution to journalArticle

Cerebral Amyloid Angiopathy
Amyloid
Transgenic Mice
Animal Models
Gene Knockout Techniques
13 Citations (Scopus)

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

Alzheimer Disease
Motor Cortex
Pathology
Neocortex
Temporal Lobe
544 Citations (Scopus)

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 2010, In : Acta Neuropathologica. 119, 1, p. 1-4 4 p.

Research output: Contribution to journalArticle

RNA-Binding Protein FUS
Ubiquitinated Proteins
Frontotemporal Lobar Degeneration
tau Proteins
Intermediate Filaments
44 Citations (Scopus)

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

Kepe, V., Ghetti, B., Farlow, M., 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 2010, In : Brain Pathology. 20, 2, p. 419-430 12 p.

Research output: Contribution to journalArticle

Amyloid
Brain
Neocortex
Thalamus
Cerebellum
147 Citations (Scopus)

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

Synucleins
SNARE Proteins
Transgenic Mice
Parkinson Disease
Lewy Body Disease
2011
1094 Citations (Scopus)

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., 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., 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., Haines, J. L., Mayeux, R., Pericak-Vance, M. A., Farrer, L. A. & Schellenberg, G. D., May 2011, In : Nature Genetics. 43, 5, p. 436-443 8 p.

Research output: Contribution to journalArticle

Alzheimer Disease
Meta-Analysis
Genome-Wide Association Study
Disease Susceptibility
Genome
28 Citations (Scopus)

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 2011, In : Brain Pathology. 21, 5, p. 575-582 8 p.

Research output: Contribution to journalArticle

Progressive Myoclonic Epilepsy
Inclusion Bodies
Brain Diseases
Peptide Hydrolases
Mutation
52 Citations (Scopus)

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 2011, In : Annals of Neurology. 69, 4, p. 712-720 9 p.

Research output: Contribution to journalArticle

Prion Diseases
Clinical Pathology
Alzheimer Disease
Phenotype
Neurofibrillary Tangles
74 Citations (Scopus)

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., 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 2011, In : Archives of Neurology. 68, 4, p. 488-497 10 p.

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
Mutation
Degeneration
Age of Onset
Chromosomes, Human, Pair 17
148 Citations (Scopus)

Genome-wide association of familial late-onset alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE

Wijsman, E. M., Pankratz, N. D., Choi, Y., Rothstein, J. H., Faber, K. M., Cheng, R., Lee, J. H., Bird, T. D., Bennett, D. A., Diaz-Arrastia, R., Goate, A. M., Farlow, M., Ghetti, B., Sweet, R. A., Foroud, T. & Mayeux, R., Feb 2011, In : PLoS Genetics. 7, 2, e1001308.

Research output: Contribution to journalArticle

Alzheimer disease
Social Adjustment
Alzheimer Disease
genome
Genome
276 Citations (Scopus)

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

Höglinger, G. U., Melhem, N. M., Dickson, D. W., Sleiman, P. M. A., Wang, L. S., Klei, L., Rademakers, R., De Silva, R., Litvan, I., Riley, D. E., Van Swieten, J. C., Heutink, P., Wszolek, Z. K., Uitti, R. J., Vandrovcova, J., Hurtig, H. I., Gross, R. G., Maetzler, W., Goldwurm, S., Tolosa, E. & 116 others, Borroni, B., Pastor, P., Cantwell, L. B., Han, M. R., Dillman, A., Van Der Brug, M. P., Gibbs, J. R., Cookson, M. R., Hernandez, D. G., Singleton, A. B., Farrer, M. J., Yu, C. E., Golbe, L. I., Revesz, T., Hardy, J., Lees, A. J., Devlin, B., Hakonarson, H., Müller, U., Schellenberg, G. D., Albin, R. L., Alonso, E., Antonini, A., Apfelbacher, M., Arnold, S. E., Avila, J., Beach, T. G., Beecher, S., Berg, D., Bird, T. D., Bogdanovic, N., Boon, A. J. W., Bordelon, Y., Brice, A., Budka, H., Canesi, M., Chiu, W. Z., Cilia, R., Colosimo, C., De Deyn, P. P., De Yebenes, J. G., Kaat, L. D., Duara, R., Durr, A., Engelborghs, S., Fabbrini, G., Finch, N. A., Flook, R., Frosch, M. P., Gaig, C., Galasko, D. R., Gasser, T., Gearing, M., Geller, E. T., Ghetti, B., Graff-Radford, N. R., Grossman, M., Hall, D. A., Hazrati, L. N., Höllerhage, M., Jankovic, J., Juncos, J. L., Karydas, A., Kretzschmar, H. A., Leber, I., Lee, V. M., Lieberman, A. P., Lyons, K. E., Mariani, C., Masliah, E., Massey, L. A., McLean, C. A., Meucci, N., Miller, B. L., Mollenhauer, B., Möller, J. C., Morris, H. R., Morris, C., O'Sullivan, S. S., Oertel, W. H., Ottaviani, D., Padovani, A., Pahwa, R., Pezzoli, G., Pickering-Brown, S., Poewe, W., Rabano, A., Rajput, A., Reich, S. G., Respondek, G., Roeber, S., Rohrer, J. D., Ross, O. A., Rossor, M. N., Sacilotto, G., Seeley, W. W., Seppi, K., Silveira-Moriyama, L., Spina, S., Srulijes, K., St. George-Hyslop, P., Stamelou, M., Standaert, D. G., Tesei, S., Tourtellotte, W. W., Trenkwalder, C., Troakes, C., Trojanowski, J. Q., Troncoso, J. C., Van Deerlin, V. M., Vonsattel, J. P. G., Wenning, G. K., White, C. L., Winter, P., Zarow, C. & Zecchinelli, A. L., Jul 2011, In : Nature Genetics. 43, 7, p. 699-705 7 p.

Research output: Contribution to journalArticle

Tauopathies
Progressive Supranuclear Palsy
Membrane Fusion Proteins
Unfolded Protein Response
Genome-Wide Association Study
1 Citation (Scopus)

Introduction: From the desk of the guest editor

Ghetti, B., Nov 2011, In : Journal of Molecular Neuroscience. 45, 3, p. 321-322 2 p.

Research output: Contribution to journalArticle

34 Citations (Scopus)

Presence of reactive microglia and neuroinflammatory mediators in a case of frontotemporal dementia with P301S mutation

Bellucci, A., Bugiani, O., Ghetti, B. & Spillantini, M. G., May 2011, In : Neurodegenerative Diseases. 8, 4, p. 221-229 9 p.

Research output: Contribution to journalArticle

Frontotemporal Dementia
Microglia
Cyclooxygenase 2
Mutation
Brain
10 Citations (Scopus)

Rapidly progressive atypical parkinsonism associated with frontotemporal lobar degeneration and motor neuron disease

Espay, A. J., Spina, S., Houghton, D. J., Murrell, J. R., De Courten-Myers, G. M., Ghetti, B. & Litvan, I., Jul 2011, In : Journal of Neurology, Neurosurgery and Psychiatry. 82, 7, p. 751-753 3 p.

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
Motor Neuron Disease
DNA-Binding Proteins
Parkinsonian Disorders
Dementia
2012
15 Citations (Scopus)

Allelic origin of protease-sensitive and protease-resistant prion protein isoforms in gerstmann-sträussler-scheinker disease with the p102l mutation

Monaco, S., Fiorini, M., Farinazzo, A., Ferrari, S., Gelati, M., Piccardo, P., Zanusso, G. & Ghetti, B., Feb 23 2012, In : PLoS One. 7, 2, e32382.

Research output: Contribution to journalArticle

protein isoforms
prions
Protein Isoforms
Peptide Hydrolases
proteinases
20 Citations (Scopus)

APP mutations in the Aβ coding region are associated with abundant cerebral deposition of Aβ38

Moro, M. L., Giaccone, G., Lombardi, R., Indaco, A., Uggetti, A., Morbin, M., Saccucci, S., Di Fede, G., Catania, M., Walsh, D. M., Demarchi, A., Rozemuller, A., Bogdanovic, N., Bugiani, O., Ghetti, B. & Tagliavini, F., Dec 2012, In : Acta Neuropathologica. 124, 6, p. 809-821 13 p.

Research output: Contribution to journalArticle

Alzheimer Disease
Mutation
Amyloid Plaques
Down Syndrome
Familial Cerebral Amyloid Angiopathy
1511 Citations (Scopus)

Clinical and biomarker changes in dominantly inherited Alzheimer's disease

Bateman, R. J., Xiong, C., Benzinger, T. L. S., Fagan, A. M., Goate, A., Fox, N. C., Marcus, D. S., Cairns, N. J., Xie, X., Blazey, T. M., Holtzman, D. M., Santacruz, A., Buckles, V., Oliver, A., Moulder, K., Aisen, P. S., Ghetti, B., Klunk, W. E., McDade, E., Martins, R. N. & 8 others, Masters, C. L., Mayeux, R., Ringman, J. M., Rossor, M. N., Schofield, P. R., Sperling, R. A., Salloway, S. & Morris, J. C., Aug 30 2012, In : New England Journal of Medicine. 367, 9, p. 795-804 10 p.

Research output: Contribution to journalArticle

Alzheimer Disease
Biomarkers
Age of Onset
Cerebrospinal Fluid
Amyloid
139 Citations (Scopus)

Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis

Whitcomb, D. C., LaRusch, J., Krasinskas, A. M., Klei, L., Smith, J. P., Brand, R. E., Neoptolemos, J. P., Lerch, M. M., Tector, M., Sandhu, B. S., Guda, N. M., Orlichenko, L., Alkaade, S., Amann, S. T., Anderson, M. A., Baillie, J., Banks, P. A., Conwell, D., Coté, G. A., Cotton, P. B. & 178 others, DiSario, J., Farrer, L. A., Forsmark, C. E., Johnstone, M., Gardner, T. B., Gelrud, A., Greenhalf, W., Haines, J. L., Hartman, D. J., Hawes, R. A., Lawrence, C., Lewis, M., Mayerle, J., Mayeux, R., Melhem, N. M., Money, M. E., Muniraj, T., Papachristou, G. I., Pericak-Vance, M. A., Romagnuolo, J., Schellenberg, G. D., Sherman, S., Simon, P., Singh, V. P., Slivka, A., Stolz, D., Sutton, R., Weiss, F. U., Wilcox, C. M., Zarnescu, N. O., Wisniewski, S. R., O'Connell, M. R., Kienholz, M. L., Roeder, K., Barmada, M. M., Yadav, D., Devlin, B., Albert, M. S., Albin, R. L., Apostolova, L. G., Arnold, S. E., Baldwin, C. T., Barber, R., Barnes, L. L., Beach, T. G., Beecham, G. W., Beekly, D., Bennett, D. A., Bigio, E. H., Bird, T. D., Blacker, D., Boxer, A., Burke, J. R., Buxbaum, J. D., Cairns, N. J., Cantwell, L. B., Cao, C., Carney, R. M., Carroll, S. L., Chui, H. C., Clark, D. G., Cribbs, D. H., Crocco, E. A., Cruchaga, C., DeCarli, C., Demirci, F. Y., Dick, M., Dickson, D. W., Duara, R., Ertekin-Taner, N., Faber, K. M., Fallon, K. B., Farlow, M., Ferris, S., Foroud, T., Frosch, M. P., Galasko, D. R., Ganguli, M., Gearing, M., Geschwind, D. H., Ghetti, B., Gilbert, J. R., Gilman, S., Glass, J. D., Goate, A. M., Graff-Radford, N. R., Green, R. C., Growdon, J. H., Hakonarson, H., Hamilton-Nelson, K. L., Hamilton, R. L., Harrell, L. E., Head, E., Honig, L. S., Hulette, C. M., Hyman, B. T., Jicha, G. A., Jin, L. W., Jun, G., Kamboh, M. I., Karydas, A., Kaye, J. A., Kim, R., Koo, E. H., Kowall, N. W., Kramer, J. H., Kramer, P., Kukul, W. A., LaFerla, F. M., Lah, J. J., Leverenz, J. B., Levey, A. I., Li, G., Lin, C. F., Lieberman, A. P., Lopez, O. L., Lunetta, K. L., Lyketsos, C. G., MacK, W. J., Marson, D. C., Martin, E. R., Martiniuk, F., Mash, D. C., Masliah, E., McKee, A. C., Mesulam, M., Miller, B. L., Miller, C. A., Miller, J. W., Montine, T. J., Morris, J. C., Murrel, J. R., Naj, A. C., Olichney, J. M., Parisi, J. E., Peskind, E., Petersen, R. C., Pierce, A., Poon, W. W., Potter, H., Quinn, J. F., Raj, A., Raskind, M., Reiman, E. M., Reisberg, B., Reitz, C., Ringman, J. M., Roberson, E. D., Rosen, H. J., Rosenberg, R. N., Sano, M., Saykin, A., Schneider, J. A., Schneider, L. S., Seeley, W. W., Smith, A. G., Sonnen, J. A., Spina, S., Stern, R. A., Tanzi, R. E., Trojanowski, J. Q., Troncoso, J. C., Tsuang, D. W., Valladares, O., Van Deerlin, V. M., Van Eldik, L. J., Vardarajan, B. N., Vinters, H. V., Vonsatte, J. P., Wang, L. S., Weintraub, S., Welsh-Bohmer, K. A., Williamson, J., Woltjer, R. L., Wright, C. B., Younkin, S. G., Yu, C. E. & Yu, L., Dec 2012, In : Nature Genetics. 44, 12, p. 1349-1354 6 p.

Research output: Contribution to journalArticle

Pancreatitis
Alcohols
Claudin-2
Hemizygote
Alleles
126 Citations (Scopus)

Evidence for a role of the rare p.A152T variant in mapt in increasing the risk for FTD-spectrum and Alzheimer's diseases

Coppola, G., Chinnathambi, S., Lee, J. J., Dombroski, B. A., Baker, M. C., Soto-ortolaza, A. I., Lee, S. E., Klein, E., Huang, A. Y., Sears, R., Lane, J. R., Karydas, A. M., Kenet, R. O., Biernat, J., Wang, L. S., Cotman, C. W., Decarli, C. S., Levey, A. I., Ringman, J. M., Mendez, M. F. & 210 others, Chui, H. C., Le ber, I., Brice, A., Lupton, M. K., Preza, E., Lovestone, S., Powell, J., Graff-radford, N., Petersen, R. C., Boeve, B. F., Lippa, C. F., Bigio, E. H., Mackenzie, I., Finger, E., Kertesz, A., Caselli, R. J., Gearing, M., Juncos, J. L., Ghetti, B., Spina, S., Bordelon, Y. M., Tourtellotte, W. W., Frosch, M. P., Vonsattel, J. P. G., Zarow, C., Beach, T. G., Albin, R. L., Lieberman, A. P., Lee, V. M., Trojanowski, J. Q., Van deerlin, V. M., Bird, T. D., Galasko, D. R., Masliah, E., White, C. L., Troncoso, J. C., Hannequin, D., Boxer, A. L., Geschwind, M. D., Kumar, S., Mandelkow, E. M., Wszolek, Z. K., Uitti, R. J., Dickson, D. W., Haines, J. L., Mayeux, R., Pericak-vance, M. A., Farrer, L. A., Apostolova, L. G., Arnold, S. E., Baldwin, C. T., Barber, R., Barmada, M. M., Beach, T., Beecham, G. W., Beekly, D., Bennett, D. A., Bigio, E. H., Bird, T. D., Blacker, D., Boeve, B. F., Bowen, J. D., Boxer, A., Burke, J. R., Buros, J., Buxbaum, J. D., Cairns, N. J., Cantwell, L. B., Cao, C., Carlson, C. S., Carney, R. M., Carrasquillo, M. M., Carroll, S. L., Chui, H. C., Clark, D. G., Corneveaux, J., Cotman, C. W., Crane, P. K., Cruchaga, C., Cummings, J. L., De Jager, P. L., DeCarli, C., DeKosky, S. T., Demirci, F. Y., Diaz-Arrastia, R., Dick, M., Dickson, D. W., Dombroski, B. A., Duara, R., Ellis, W. G., Ertekin-Taner, N. N., Evans, D., Faber, K. M., Fallon, K. B., Farlow, M., Ferris, S., Foroud, T., Frosch, M. P., Galasko, D. R., Gallins, P. J., Ganguli, M., Gearing, M., Geschwind, D. H., Ghetti, B., Gilbert, J. R., Gilman, S., Giordani, B., Glass, J. D., Goate, A. M., Graff-Radford, N. R., Green, R. C., Growdon, J. H., Hakonarson, H., Hamilton, R. L., Hardy, J., Harrell, L. E., Head, E., Honig, L. S., Huentelman, M. J., Hulette, C. M., Hyman, B. T., Jarvik, G. P., Jicha, G. A., Jin, L. W., Johnson, N., Jun, G., Kamboh, M. I., Karlawish, J., Karydas, A., Kauwe, J. S. K., Kaye, J. A., Kim, R., Koo, E. H., Kowall, N. W., Kramer, P., Kukull, W. A., Lah, J. J., Larson, E. B., Levey, A. I., Lieberman, A. P., Lopez, O. L., Lunetta, K. L., Mack, W. J., Marson, D. C., Martin, E. R., Martiniuk, F., Mash, D. C., Masliah, E., McCormick, W. C., McCurry, S. M., McDavid, A. N., McKee, A. C., Mesulam, M., Miller, B. L., Miller, C. A., Miller, J. W., Montine, T. J., Morris, J. C., Myers, A. J., Naj, A. C., Nowotny, P., Parisi, J. E., Perl, D. P., Peskind, E., Petersen, R. C., Poon, W. W., Potter, H., Quinn, J. F., Raj, A., Rajbhandary, R. A., Raskind, M., Reiman, E. M., Reisberg, B., Reitz, C., Ringman, J. M., Roberson, E. D., Rogaeva, E., Rosenberg, R. N., Sano, M., Saykin, A., Schneider, J. A., Schneider, L. S., Seeley, W., Shelanski, M. L., Slifer, M. A., Smith, C. D., Sonnen, J. A., Spina, S., George-Hyslop, P. S., Stern, R. A., Tanzi, R. E., Trojanowski, J. Q., Troncoso, J. C., Tsuang, D. W., Van Deerlin, V. M., Vardarajan, B. N., Vinters, H. V., Vonsattel, J. P., Wang, L. S., Weintraub, S., Welsh-Bohmer, K. A., Williamson, J., Woltjer, R. L., Younkin, S. G., Ross, O. A., Rademakers, R., Schellenberg, G. D., Miller, B. L., Mandelkow, E. & Geschwind, D. H., 2012, In : Human Molecular Genetics. 21, 15, p. 3500-3512 13 p., dds161.

Research output: Contribution to journalArticle

Progressive Supranuclear Palsy
Frontotemporal Dementia
Microtubule-Associated Proteins
Microtubules
tau Proteins
92 Citations (Scopus)

Frontotemporal dementia: Implications for understanding Alzheimer disease

Goedert, M., Ghetti, B. & Spillantini, M. G., 2012, In : Cold Spring Harbor perspectives in medicine. 2, 2, a006254.

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
Frontotemporal Dementia
Alzheimer Disease
DNA-Binding Proteins
Chromosomes
Amyloid beta-Protein Precursor
Genes
Alzheimer Disease
Amyloid
Mutation
21 Citations (Scopus)

Mechanism of PrP-amyloid formation in mice without transmissible spongiform encephalopathy

Jeffrey, M., McGovern, G., Chambers, E. V., King, D., González, L., Manson, J. C., Ghetti, B., Piccardo, P. & Barron, R. M., Jan 2012, In : Brain Pathology. 22, 1, p. 58-66 9 p.

Research output: Contribution to journalArticle

Prion Diseases
Amyloid
Scrapie
Membranes
Cell Membrane
55 Citations (Scopus)

MRI characteristics and scoring in HDLS due to CSF1R gene mutations

Sundal, C., Van Gerpen, J. A., Nicholson, A. M., Wider, C., Shuster, E. A., Aasly, J., Spina, S., Ghetti, B., Roeber, S., Garbern, J., Borjesson-Hanson, A., Tselis, A., Swerdlow, R. H., Miller, B. B., Fujioka, S., Heckman, M. G., Uitti, R. J., Josephs, K. A., Baker, M., Andersen, O. & 4 others, Rademakers, R., Dickson, D. W., Broderick, D. & Wszolek, Z. K., Aug 7 2012, In : Neurology. 79, 6, p. 566-574 9 p.

Research output: Contribution to journalArticle

Colony-Stimulating Factor Receptors
Macrophage Colony-Stimulating Factor
Mutation
Genes
Atrophy
259 Citations (Scopus)

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

Rademakers, R., Baker, M., Nicholson, A. M., Rutherford, N. J., Finch, N., Soto-Ortolaza, A., Lash, J., Wider, C., Wojtas, A., Dejesus-Hernandez, M., Adamson, J., Kouri, N., Sundal, C., Shuster, E. A., Aasly, J., MacKenzie, J., Roeber, S., Kretzschmar, H. A., Boeve, B. F., Knopman, D. S. & 18 others, Petersen, R. C., Cairns, N. J., Ghetti, B., Spina, S., Garbern, J., Tselis, A. C., Uitti, R., Das, P., Van Gerpen, J. A., Meschia, J. F., Levy, S., Broderick, D. F., Graff-Radford, N., Ross, O. A., Miller, B. B., Swerdlow, R. H., Dickson, D. W. & Wszolek, Z. K., Feb 2012, In : Nature Genetics. 44, 2, p. 200-205 6 p.

Research output: Contribution to journalArticle

Colony-Stimulating Factor Receptors
Macrophage Colony-Stimulating Factor
Mutation
Genes
Exome
38 Citations (Scopus)

Screening for C9ORF72 repeat expansion in FTLD

Ferrari, R., Mok, K., Moreno, J. H., Cosentino, S., Goldman, J., Pietrini, P., Mayeux, R., Tierney, M. C., Kapogiannis, D., Jicha, G. A., Murrell, J. R., Ghetti, B., Wassermann, E. M., Grafman, J., Hardy, J., Huey, E. D. & Momeni, P., Aug 2012, In : Neurobiology of Aging. 33, 8

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
Pathology
Frontotemporal Dementia
Amyloid Plaques
Amyotrophic Lateral Sclerosis
11 Citations (Scopus)

The Psen1-L166P-knock-in mutation leads to amyloid deposition in human wild-type amyloid precursor protein YAC transgenic mice

Vidal, R., Sammeta, N., Garringer, H., Sambamurti, K., Miravalle, L., Lamb, B. & Ghetti, B., Jul 2012, In : FASEB Journal. 26, 7, p. 2899-2910 12 p.

Research output: Contribution to journalArticle

Amyloid beta-Protein Precursor
Pathology
Amyloid
Transgenic Mice
Mutation
2013
184 Citations (Scopus)

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

Nalls, M. A., Duran, R., Lopez, G., Kurzawa-Akanbi, M., McKeith, I. G., Chinnery, P. F., Morris, C. M., Theuns, J., Crosiers, D., Cras, P., Engelborghs, S., De Deyn, P. P., Van Broeckhoven, C., Mann, D. M. A., Snowden, J., Pickering-Brown, S., Halliwell, N., Davidson, Y., Gibbons, L., Harris, J. & 38 others, Sheerin, U. M., Bras, J., Hardy, J., Clark, L., Marder, K., Honig, L. S., Berg, D., Maetzler, W., Brockmann, K., Gasser, T., Novellino, F., Quattrone, A., Annesi, G., De Marco, E. V., Rogaeva, E., Masellis, M., Black, S. E., Bilbao, J. M., Foroud, T., Ghetti, B., Nichols, W. C., Pankratz, N., Halliday, G., Lesage, S., Klebe, S., Durr, A., Duyckaerts, C., Brice, A., Giasson, B. I., Trojanowski, J. Q., Hurtig, H. I., Tayebi, N., Landazabal, C., Knight, M. A., Keller, M., Singleton, A. B., Wolfsberg, T. G. & Sidransky, E., 2013, In : JAMA Neurology. 70, 6, p. 727-735 9 p.

Research output: Contribution to journalArticle

Glucosylceramidase
Lewy Body Disease
Multicenter Studies
Mutation
Parkinson Disease
327 Citations (Scopus)

Brain homogenates from human tauopathies induce tau inclusions in mouse brain

Clavaguera, F., Akatsu, H., Fraser, G., Crowther, R. A., Frank, S., Hench, J., Probst, A., Winkler, D. T., Reichwald, J., Staufenbiel, M., Ghetti, B., Goedert, M. & Tolnay, M., Jun 4 2013, In : Proceedings of the National Academy of Sciences of the United States of America. 110, 23, p. 9535-9540 6 p.

Research output: Contribution to journalArticle

Tauopathies
Brain
Injections
Transgenic Mice
Alzheimer Disease

Erratum: APP mutations in the Aβ coding region are associated with abundant cerebral deposition of Aβ38 (Acta Neuropathologica (2012) 124 (809-821) DOI: 10.1007/s00401-012-1061-x)

Moro, M. L., Giaccone, G., Lombardi, R., Indaco, A., Uggetti, A., Morbin, M., Saccucci, S., Di Fede, G., Catania, M., Walsh, D. M., Demarchi, A., Rozemuller, A., Bogdanovic, N., Bugiani, O., Ghetti, B. & Tagliavini, F., Mar 2013, In : Acta Neuropathologica. 125, 3, p. 467 1 p.

Research output: Contribution to journalArticle

Mutation

Erratum: Preclinical trials in autosomal dominant AD: Implementation of the DIAN-TU trial (Rev. Neurol. (2013) 169 (10) (737-743))

Mills, S. M., Mallmann, J., Santacruz, A. M., Fuqua, A., Carril, M., Aisen, P. S., Althage, M. C., Belyew, S., Benzinger, T. L., Brooks, W. S., Buckles, V. D., Cairns, N. J., Clifford, D., Danek, A., Fagan, A. M., Farlow, M., Fox, N., Ghetti, B., Goate, A. M., Heinrichs, D. & 22 others, Hornbeck, R., Jack, C., Jucker, M., Klunk, W. E., Marcus, D. S., Martins, R. N., Masters, C. M., Mayeux, R., McDade, E., Morris, J. C., Oliver, A., Ringman, J. M., Rossor, M. N., Salloway, S., Schofield, P. R., Snider, J., Snyder, P., Sperling, R. A., Stewart, C., Thomas, R. G., Xiong, C. & Bateman, R. J., Dec 2013, In : Revue Neurologique. 169, 12, p. 1018 1 p.

Research output: Contribution to journalArticle

77 Citations (Scopus)

Globular glial tauopathies (GGT): Consensus recommendations

Ahmed, Z., Bigio, E. H., Budka, H., Dickson, D. W., Ferrer, I., Ghetti, B., Giaccone, G., Hatanpaa, K. J., Holton, J. L., Josephs, K. A., Powers, J., Spina, S., Takahashi, H., White, C. L., Revesz, T. & Kovacs, G. G., 2013, In : Acta Neuropathologica. 126, 4, p. 537-544 8 p.

Research output: Contribution to journalArticle

Tauopathies
Neuroglia
Consensus
Pyramidal Tracts
Motor Cortex
6 Citations (Scopus)

Identification of functional variants from whole-exome sequencing, combined with neuroimaging genetics

Nho, K., Corneveaux, J. J., Kim, S., Lin, H., Risacher, S. L., Shen, L., Swaminathan, S., Ramanan, V. K., Liu, Y., Foroud, T., Inlow, M. H., Siniard, A. L., Reiman, R. A., Aisen, P. S., Petersen, R. C., Green, R. C., Jack, C. R., Weiner, M. W., Baldwin, C. T., Lunetta, K. & 14 others, Farrer, L. A., Furney, S. J., Lovestone, S., Simmons, A., Mecocci, P., Vellas, B., Tsolaki, M., Kloszewska, I., Soininen, H., McDonald, B., Farlow, M., Ghetti, B., Huentelman, M. J. & Saykin, A., Jul 2013, In : Molecular Psychiatry. 18, 7, p. 739 1 p.

Research output: Contribution to journalArticle

Exome
Genome-Wide Association Study
Neuroimaging
Atrophy
Hippocampus
14 Citations (Scopus)

Increased Tau Phosphorylation and Tau Truncation, and Decreased Synaptophysin Levels in Mutant BRI2/Tau Transgenic Mice

Garringer, H., Murrell, J., Sammeta, N., Gnezda, A., Ghetti, B. & Vidal, R., Feb 13 2013, In : PLoS One. 8, 2, e56426.

Research output: Contribution to journalArticle

Synaptophysin
Phosphorylation
dementia
Transgenic Mice
phosphorylation
42 Citations (Scopus)

Influence of Genetic Variation on Plasma Protein Levels in Older Adults Using a Multi-Analyte Panel

Kim, S., Swaminathan, S., Inlow, M., Risacher, S. L., Nho, K., Shen, L., Foroud, T., Petersen, R. C., Aisen, P. S., Soares, H., Toledo, J. B., Shaw, L. M., Trojanowski, J. Q., Weiner, M. W., McDonald, B., Farlow, M., Ghetti, B. & Saykin, A., Jul 23 2013, In : PLoS One. 8, 7, e70269.

Research output: Contribution to journalArticle

blood proteins
Blood Proteins
Polymorphism
Single Nucleotide Polymorphism
genetic variation