Bernardino Ghetti

  • 29265 Citations
  • 81 h-Index
1967 …2021
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Publications 1967 2019

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2016
30 Citations (Scopus)

Impact of training method on the robustness of the visual assessment of 18F-florbetaben PET scans: Results from a phase-3 study

Seibyl, J., Catafau, A. M., Barthel, H., Ishii, K., Rowe, C. C., Leverenz, J. B., Ghetti, B., Ironside, J. W., Takao, M., Akatsu, H., Murayama, S., Bullich, S., Mueller, A., Koglin, N., Schulz-Schaeffer, W. J., Hoffmann, A., Sabbagh, M. N., Stephens, A. W. & Sabri, O., Jun 1 2016, In : Journal of Nuclear Medicine. 57, 6, p. 900-906 7 p.

Research output: Contribution to journalArticle

Silver Staining
Positron-Emission Tomography
Immunohistochemistry
Amyloid Plaques
Amyloid
15 Citations (Scopus)
Neurologic Manifestations
Observational Studies
Alzheimer Disease
Age of Onset
Neurobehavioral Manifestations
14 Citations (Scopus)

Quantitative Amyloid imaging in autosomal Dominant Alzheimer's disease: Results from the DIAN study group

Su, Y., Blazey, T. M., Owen, C. J., Christensen, J. J., Friedrichsen, K., Joseph-Mathurin, N., Wang, Q., Hornbeck, R. C., Ances, B. M., Snyder, A. Z., Cash, L. A., Koeppe, R. A., Klunk, W. E., Galasko, D., Brickman, A. M., McDade, E., Ringman, J. M., Thompson, P. M., Saykin, A., Ghetti, B. & 16 others, Sperling, R. A., Johnson, K. A., Salloway, S. P., Schofield, P. R., Masters, C. L., Villemagne, V. L., Fox, N. C., Förster, S., Chen, K., Reiman, E. M., Xiong, C., Marcus, D. S., Weiner, M. W., Morris, J. C., Bateman, R. J. & Benzinger, T. L. S., Mar 1 2016, In : PLoS One. 11, 3, e0152082.

Research output: Contribution to journalArticle

amyloid
Alzheimer disease
Amyloid
Alzheimer Disease
image analysis
3 Citations (Scopus)

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

17 Citations (Scopus)

The phosphatase calcineurin regulates pathological TDP-43 phosphorylation

Liachko, N. F., Saxton, A. D., McMillan, P. J., Strovas, T. J., Currey, H. N., Taylor, L. M., Wheeler, J. M., Oblak, A. L., Ghetti, B., Montine, T. J., Keene, C. D., Raskind, M. A., Bird, T. D. & Kraemer, B. C., Jul 29 2016, (Accepted/In press) In : Acta Neuropathologica. p. 1-17 17 p.

Research output: Contribution to journalArticle

Frontotemporal Dementia
TDP-43 Proteinopathies
Calcineurin
Phosphorylation
Amyotrophic Lateral Sclerosis
67 Citations (Scopus)

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., 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

Alzheimer Disease
Mutation
Magnetic Resonance Imaging
White Matter
Cerebrovascular Disorders
2015
18 Citations (Scopus)

Association of long runs of homozygosity with Alzheimer disease among African American individuals

Ghani, M., Reitz, C., Cheng, R., Vardarajan, B. N., Jun, G., Sato, C., Naj, A., Rajbhandary, R., Wang, L. S., Valladares, O., Lin, C. F., Larson, E. B., Graff-Radford, N. R., Evans, D., De Jager, P. L., Crane, P. K., Buxbaum, J. D., Murrell, J. R., Raj, T., Ertekin-Taner, N. & 153 others, Logue, M., Baldwin, C. T., Green, R. C., Barnes, L. L., Cantwell, L. B., Fallin, M. D., Go, R. C. P., Griffith, P. A., Obisesan, T. O., Manly, J. J., Lunetta, K. L., Kamboh, M. I., Lopez, O. L., Bennett, D. A., Hendrie, H., Hall, K., Goate, A. M., Byrd, G. S., Kukull, W. A., Foroud, T., Haines, J. L., Farrer, L. A., Pericak-Vance, M. A., Lee, J. H., Schellenberg, G. D., St. George-Hyslop, P., Mayeux, R., Rogaeva, E., Albert, M. S., Albin, R. L., Apostolova, L. G., Arnold, S. E., Barber, R., Barmada, M. M., Beach, T. G., Beecham, G. W., Beekly, D., Bigio, E. H., Bird, T. D., Blacker, D., Boeve, B. F., Bowen, J. D., Boxer, A., Burke, J. R., Cai, G., Cairns, N. J., Cao, C., Carlson, C. S., Carney, R. M., Carroll, S. L., Chui, H. C., Clark, D. G., Cribbs, D. H., Crocco, E. A., Cruchaga, C., DeCarli, C., DeKosky, S. T., Demirci, F. Y., Dick, M., Faber, K. M., Fallon, K. B., Ferris, S., Frosch, M. P., Galasko, D. R., Ganguli, M., Gearing, M., Geschwind, D. H., Ghetti, B., Gilbert, J. R., Gilman, S., Glass, J. D., Growdon, J. H., Hakonarson, H., Hamilton, R. L., Hamilton-Nelson, K. L., Haroutunian, V., Harrell, L. E., Honig, L. S., Hulette, C. M., Hyman, B. T., Jarvik, G. P., Jicha, G. A., Jin, L. W., Karydas, A., Kauwe, J. S. K., Kaye, J. A., Kim, R., Koo, E. H., Kowall, N. W., Kramer, J. H., Kramer, P., LaFerla, F. M., Lah, J. J., Lang-Walker, R., Leverenz, J. B., Levey, A. I., Li, G., Lieberman, A. P., 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., Montine, T. J., Morris, J. 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., Ringman, J. M., Roberson, E. D., 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., Van Deerlin, V. M., Van Eldik, L. J., Vinters, H. V., Vonsattel, J. P., Weintraub, S., Welsh-Bohmer, K. A., Williamson, J., Woltjer, R. L., Wright, C. B., Younkin, S. G., Yu, C. E. & Yu, L., Nov 1 2015, In : JAMA Neurology. 72, 11, p. 1313-1323 11 p.

Research output: Contribution to journalArticle

African Americans
Alzheimer Disease
Single Nucleotide Polymorphism
Consensus
Dementia
56 Citations (Scopus)

Associations between Potentially Modifiable Risk Factors and Alzheimer Disease: A Mendelian Randomization Study

Alzheimer’s Disease Genetics Consortium, The GERAD1 Consortium & EPIC-InterAct Consortium, Jun 1 2015, In : PLoS Medicine. 12, 6, e1001841.

Research output: Contribution to journalArticle

Random Allocation
Alzheimer Disease
Smoking
Odds Ratio
Mendelian Randomization Analysis
55 Citations (Scopus)

Bank Vole Prion Protein As an Apparently Universal Substrate for RT-QuIC-Based Detection and Discrimination of Prion Strains

Orrú, C. D., Groveman, B. R., Raymond, L. D., Hughson, A. G., Nonno, R., Zou, W., Ghetti, B., Gambetti, P. & Caughey, B., Jun 1 2015, In : PLoS Pathogens. 11, 6, e1004983.

Research output: Contribution to journalArticle

Arvicolinae
Prions
Sheep
Conversion Disorder
Bovine Spongiform Encephalopathy
14 Citations (Scopus)

Cerebral amyloidosis associated with cognitive decline in autosomal dominant Alzheimer disease

Wang, F., Gordon, B. A., Ryman, D. C., Ma, S., Xiong, C., Hassenstab, J., Goate, A., Fagan, A. M., Cairns, N. J., Marcus, D. S., McDade, E., Ringman, J. M., Graff-Radford, N. R., Ghetti, B., Farlow, M., Sperling, R., Salloway, S., Schofield, P. R., Masters, C. L., Martins, R. N. & 8 others, Rossor, M. N., Jucker, M., Danek, A., Förster, S., Lane, C. A. S., Morris, J. C., Benzinger, T. L. S. & Bateman, R. J., Sep 1 2015, In : Neurology. 85, 9, p. 790-798 9 p.

Research output: Contribution to journalArticle

Alzheimer Disease
Episodic Memory
Short-Term Memory
Cognition
Mutation
10 Citations (Scopus)

Correction to: Bank Vole Prion Protein As an Apparently Universal Substrate for RT-QuIC-Based Detection and Discrimination of Prion Strains (PLoS Pathog, (2015) 11, [8])

Orrú, C. D., Groveman, B. R., Raymond, L. D., Hughson, A. G., Nonno, R., Zou, W., Ghetti, B., Gambetti, P. & Caughey, B., Aug 18 2015, In : PLoS Pathogens. 11, 8, e1005117.

Research output: Contribution to journalArticle

Arvicolinae
Prions
Prion Proteins
33 Citations (Scopus)

Distinct Neurodegenerative Changes in an Induced Pluripotent Stem Cell Model of Frontotemporal Dementia Linked to Mutant TAU Protein

Ehrlich, M., Hallmann, A. L., Reinhardt, P., Araúzo-Bravo, M. J., Korr, S., Röpke, A., Psathaki, O. E., Ehling, P., Meuth, S. G., Oblak, A. L., Murrell, J. R., Ghetti, B., Zaehres, H., Schöler, H. R., Sterneckert, J., Kuhlmann, T. & Hargus, G., Jul 14 2015, In : Stem Cell Reports. 5, 1, p. 83-96 14 p.

Research output: Contribution to journalArticle

Induced Pluripotent Stem Cells
Frontotemporal Dementia
Mutant Proteins
Stem cells
Neurons
22 Citations (Scopus)

Early behavioural changes in familial Alzheimer's disease in the Dominantly Inherited Alzheimer Network

Ringman, J. M., Liang, L. J., Zhou, Y., Vangala, S., Teng, E., Kremen, S., Wharton, D., Goate, A., Marcus, D. S., Farlow, M., Ghetti, B., McDade, E., Masters, C. L., Mayeux, R. P., Rossor, M., Salloway, S., Schofield, P. R., Cummings, J. L., Buckles, V., Bateman, R. & 1 others, Morris, J. C., Apr 1 2015, In : Brain. 138, 4, p. 1036-1045 10 p.

Research output: Contribution to journalArticle

Alzheimer Disease
Depression
Mutation
Apathy
Geriatrics

Erratum: Early behavioural changes in familial Alzheimers disease in the Dominantly Inherited Alzheimer Network (Brain (2015) 138 (103645) (10.1093/brain/awv004))

Ringman, J. M., Liang, L. J., Zhou, Y., Vangala, S., Teng, E., Kremen, S., Wharton, D., Goate, A., Marcus, D. S., Farlow, M., Ghetti, B., McDade, E., Masters, C. L., Mayeux, R. P., Rossor, M., Salloway, S., Schofield, P. R., Cummings, J. L., Buckles, V., Bateman, R. & 1 others, Morris, J. C., Dec 1 2015, In : Brain. 138, 12, p. e401

Research output: Contribution to journalArticle

Alzheimer
Familial
Alzheimer's Disease
154 Citations (Scopus)

Florbetaben PET imaging to detect amyloid beta plaques in Alzheimer's disease: Phase 3 study

Florbetaben Phase 3 Study Group, Aug 1 2015, In : Alzheimer's and Dementia. 11, 8, p. 964-974 11 p., 1958.

Research output: Contribution to journalArticle

Amyloid Plaques
Positron-Emission Tomography
Amyloid
Alzheimer Disease
Sensitivity and Specificity
17 Citations (Scopus)

Genetically predicted body mass index and Alzheimer's disease-related phenotypes in three large samples: Mendelian randomization analyses

Adult Changes in Thought Study Investigators, Religious Orders Study/Memory and Aging Project Investigators & Alzheimer's Disease Genetics Consortium, Dec 1 2015, In : Alzheimer's and Dementia. 11, 12, p. 1439-1451 13 p.

Research output: Contribution to journalArticle

Mendelian Randomization Analysis
Alzheimer Disease
Body Mass Index
Phenotype
Odds Ratio
64 Citations (Scopus)

Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy

Kouri, N., Ross, O. A., Dombroski, B., Younkin, C. S., Serie, D. J., Soto-Ortolaza, A., Baker, M., Finch, N. C. A., Yoon, H., Kim, J., Fujioka, S., Mclean, C. A., Ghetti, B., Spina, S., Cantwell, L. B., Farlow, M., Grafman, J., Huey, E. D., Ryung Han, M., Beecher, S. & 34 others, Geller, E. T., Kretzschmar, H. A., Roeber, S., Gearing, M., Juncos, J. L., Vonsattel, J. P. G., Van Deerlin, V. M., Grossman, M., Hurtig, H. I., Gross, R. G., Arnold, S. E., Trojanowski, J. Q., Lee, V. M., Wenning, G. K., White, C. L., Höglinger, G. U., Müller, U., Devlin, B., Golbe, L. I., Crook, J., Parisi, J. E., Boeve, B. F., Josephs, K. A., Wszolek, Z. K., Uitti, R. J., Graff-Radford, N. R., Litvan, I., Younkin, S. G., Wang, L. S., Ertekin-Taner, N., Rademakers, R., Hakonarsen, H., Schellenberg, G. D. & Dickson, D. W., Jun 16 2015, In : Nature Communications. 6, 7247.

Research output: Contribution to journalArticle

Progressive Supranuclear Palsy
degeneration
genome
Genome-Wide Association Study
Oligodendroglia
120 Citations (Scopus)

Invited review: Frontotemporal dementia caused by microtubule-associated protein tau gene (MAPT) mutations: A chameleon for neuropathology and neuroimaging

Ghetti, B., Oblak, A. L., Boeve, B. F., Johnson, K. A., Dickerson, B. C. & Goedert, M., Feb 1 2015, In : Neuropathology and Applied Neurobiology. 41, 1, p. 24-46 23 p.

Research output: Contribution to journalArticle

Frontotemporal Dementia
Microtubule-Associated Proteins
Lizards
Neuroimaging
Positron-Emission Tomography
70 Citations (Scopus)

Neuronal NLRP1 inflammasome activation of Caspase-1 coordinately regulates inflammatory interleukin-1-beta production and axonal degeneration-associated Caspase-6 activation

Kaushal, V., Dye, R., Pakavathkumar, P., Foveau, B., Flores, J., Hyman, B., Ghetti, B., Koller, B. H. & LeBlanc, A. C., Oct 9 2015, In : Cell Death and Differentiation. 22, 10, p. 1676-1686 11 p.

Research output: Contribution to journalArticle

Caspase 6
Inflammasomes
Caspase 1
Interleukin-1beta
Neurons
24 Citations (Scopus)

Neuropathologic assessment of participants in two multi-center longitudinal observational studies: The Alzheimer Disease Neuroimaging Initiative (ADNI) and the Dominantly Inherited Alzheimer Network (DIAN)

the Alzheimer Disease Neuroimaging Initiative and the Dominantly Inherited Alzheimer Network, Aug 1 2015, In : Neuropathology. 35, 4, p. 390-400 11 p.

Research output: Contribution to journalArticle

Neuroimaging
Observational Studies
Longitudinal Studies
Alzheimer Disease
Autopsy
26 Citations (Scopus)

PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease

Beecham, G. W., Dickson, D. W., Scott, W. K., Martin, E. R., Schellenberg, G., Nuytemans, K., Larson, E. B., Buxbaum, J. D., Trojanowski, J. Q., Van Deerlin, V. M., Hurtig, H. I., Mash, D. C., Beach, T. G., Troncoso, J. C., Pletnikova, O., Frosch, M. P., Ghetti, B., Foroud, T., Honig, L. S., Marder, K. & 12 others, Vonsattel, J. P., Goldman, S. M., Vinters, H. V., Ross, O. A., Wszolek, Z. K., Wang, L., Dykxhoorn, D. M., Pericak-Vance, M. A., Montine, T. J., Leverenz, J. B., Dawson, T. M. & Vance, J. M., Mar 10 2015, In : Neurology. 84, 10, p. 972-980 9 p.

Research output: Contribution to journalArticle

Parkinson Disease
Genome-Wide Association Study
Haplotypes
Genetic Heterogeneity
Chromosomes, Human, Pair 1
68 Citations (Scopus)

Partial volume correction in quantitative amyloid imaging

Dominantly Inherited Alzheimer Network, Feb 5 2015, In : NeuroImage. 107, p. 55-64 10 p.

Research output: Contribution to journalArticle

Amyloid
Positron-Emission Tomography
Polyvinyl Chloride
Research
2-(4'-(methylamino)phenyl)-6-hydroxybenzothiazole
31 Citations (Scopus)

Protective variant for hippocampal atrophy identified by whole exome sequencing

Nho, K., Kim, S., Risacher, S. L., Shen, L., Corneveaux, J. J., Swaminathan, S., Lin, H., 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. L. & 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., Mar 1 2015, In : Annals of Neurology. 77, 3, p. 547-552 6 p.

Research output: Contribution to journalArticle

Exome
Neurogenesis
Neuroimaging
Computer Simulation
Atrophy
20 Citations (Scopus)

Rarity of the alzheimer disease-protective APP A673T variant in the United States

National Institute on Aging-Late-Onset Alzheimer's Disease (NIA-LOAD) Family Study & Alzheimer's Disease Genetics Consortium, Feb 1 2015, In : JAMA Neurology. 72, 2, p. 209-216 8 p.

Research output: Contribution to journalArticle

Amyloid beta-Protein Precursor
Alzheimer Disease
Genes
Sweden
Alanine
16 Citations (Scopus)

Systemic and cerebral iron homeostasis in ferritin knock-out Mice

Li, W., Garringer, H., Goodwin, C. B., Richine, B., Acton, A., VanDuyn, N., Muhoberac, B. B., Irimia-Dominguez, J., Chan, R., Peacock, M., Nass, R., Ghetti, B. & Vidal, R., Jan 28 2015, In : PLoS One. 10, 1, e0117435.

Research output: Contribution to journalArticle

ferritin
Ferritins
Knockout Mice
homeostasis
Homeostasis
37 Citations (Scopus)

Visualization of regional tau deposits using (3)H-THK5117 in Alzheimer brain tissue

Lemoine, L., Saint-Aubert, L., Marutle, A., Antoni, G., Eriksson, J. P., Ghetti, B., Okamura, N., Nennesmo, I., Gillberg, P. G. & Nordberg, A., Jul 2 2015, In : Acta neuropathologica communications. 3, p. 40 1 p.

Research output: Contribution to journalArticle

Alzheimer Disease
Brain
Positron-Emission Tomography
Autoradiography
tau Proteins
2014
4 Citations (Scopus)

Cerebral hypometabolism and grey matter density in MAPT intron 10 +3 mutation carriers

Deters, K. D., Risacher, S. L., Farlow, M., Unverzagt, F., Kareken, D., Hutchins, G., Yoder, K., Murrell, J. R., Spina, S., Epperson, F., Gao, S., Saykin, A. & Ghetti, B., 2014, In : American Journal of Neurodegenerative Diseases. 3, 3, p. 103-114 12 p.

Research output: Contribution to journalArticle

Inteins
Microtubule-Associated Proteins
Frontotemporal Dementia
Mutation
Temporal Lobe
75 Citations (Scopus)

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: A genome-wide association study

Alzheimer Disease Genetics Consortium, Nov 1 2014, In : JAMA Neurology. 71, 11, p. 1394-1404 11 p.

Research output: Contribution to journalArticle

Genetic Loci
Genome-Wide Association Study
Age of Onset
Alzheimer Disease
Genetic Databases
12 Citations (Scopus)

Enlarging the nosological spectrum of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)

Hoffmann, S., Murrell, J., Harms, L., Miller, K., Meisel, A., Brosch, T., Scheel, M., Ghetti, B., Goebel, H. H. & Stenzel, W., Sep 1 2014, In : Brain pathology (Zurich, Switzerland). 24, 5, p. 452-458 7 p.

Research output: Contribution to journalArticle

Colony-Stimulating Factor Receptors
Macrophage Colony-Stimulating Factor
Mutation
Personality
Macrophages
39 Citations (Scopus)

Functional connectivity in autosomal dominant and late-onset Alzheimer disease

Thomas, J. B., Brier, M. R., Bateman, R. J., Snyder, A. Z., Benzinger, T. L., Xiong, C., Raichle, M., Holtzman, D. M., Sperling, R. A., Mayeux, R., Ghetti, B., Ringman, J. M., Salloway, S., McDade, E., Rossor, M. N., Ourselin, S., Schofield, P. R., Masters, C. L., Martins, R. N., Weiner, M. W. & 18 others, Thompson, P. M., Fox, N. C., Koeppe, R. A., Jack, C. R., Mathis, C. A., Oliver, A., Blazey, T. M., Moulder, K., Buckles, V., Hornbeck, R., Chhatwal, J., Schultz, A. P., Goate, A. M., Fagan, A. M., Cairns, N. J., Marcus, D. S., Morris, J. C. & Ances, B. M., Sep 1 2014, In : JAMA Neurology. 71, 9, p. 1111-1122 12 p.

Research output: Contribution to journalArticle

Alzheimer Disease
Dementia
Connectivity
Onset
Alzheimer's Disease
22 Citations (Scopus)

Genetic Heterogeneity in Alzheimer Disease and Implications for Treatment Strategies

Ringman, J. M., Goate, A., Masters, C. L., Cairns, N. J., Danek, A., Graff-Radford, N., Ghetti, B. & Morris, J. C., 2014, In : Current Neurology and Neuroscience Reports. 14, 11

Research output: Contribution to journalArticle

Genetic Heterogeneity
Alzheimer Disease
Mutation
Homozygote
Therapeutics
139 Citations (Scopus)

Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias

Beecham, G. W., Hamilton, K., Naj, A. C., Martin, E. R., Huentelman, M., Myers, A. J., Corneveaux, J. J., Hardy, J., Vonsattel, J. P., Younkin, S. G., Bennett, D. A., De Jager, P. L., Larson, E. B., Crane, P. K., Kamboh, M. I., Kofler, J. K., Mash, D. C., Duque, L., Gilbert, J. R., Gwirtsman, H. & 16 others, Buxbaum, J. D., Kramer, P., Dickson, D. W., Farrer, L. A., Frosch, M. P., Ghetti, B., Haines, J. L., Hyman, B. T., Kukull, W. A., Mayeux, R. P., Pericak-Vance, M. A., Schneider, J. A., Trojanowski, J. Q., Reiman, E. M., Schellenberg, G. D. & Montine, T. J., Sep 1 2014, In : PLoS Genetics. 10, 9

Research output: Contribution to journalArticle

dementia
Genome-Wide Association Study
meta-analysis
Alzheimer disease
Dementia
6 Citations (Scopus)

Gerstmann-sträussler-scheinker disease and anchorless prion protein mice share prion conformational properties diverging from sporadic creutzfeldt-jakob disease

Zanusso, G., Fiorini, M., Ferrari, S., Meade-White, K., Barbieri, I., Brocchi, E., Ghetti, B. & Monaco, S., Feb 21 2014, In : Journal of Biological Chemistry. 289, 8, p. 4870-4881 12 p.

Research output: Contribution to journalArticle

Prion Diseases
Prions
Glycosylphosphatidylinositols
Inborn Genetic Diseases
Medical Genetics
145 Citations (Scopus)

Longitudinal change in CSF biomarkers in autosomal-dominant Alzheimer's disease

Fagan, A. M., Xiong, C., Jasielec, M. S., Bateman, R. J., Goate, A. M., Benzinger, T. L. S., Ghetti, B., Martins, R. N., Masters, C. L., Mayeux, R., Ringman, J. M., Rossor, M. N., Salloway, S., Schofield, P. R., Sperling, R. A., Marcus, D., Cairns, N. J., Buckles, V. D., Ladenson, J. H., Morris, J. C. & 1 others, Holtzman, D. M., Mar 5 2014, In : Science Translational Medicine. 6, 226, 226ra30.

Research output: Contribution to journalArticle

Cerebrospinal Fluid
Alzheimer Disease
Biomarkers
Amyloid
Neurocalcin
23 Citations (Scopus)

Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: A neuropathologic and neuroanatomical study of four siblings

Oblak, A. L., Hagen, M. C., Sweadner, K. J., Haq, I., Whitlow, C. T., Maldjian, J. A., Epperson, F., Cook, J. F., Stacy, M., Murrell, J. R., Ozelius, L. J., Brashear, A. & Ghetti, B., 2014, In : Acta Neuropathologica. 128, 1, p. 81-98 18 p.

Research output: Contribution to journalArticle

Siblings
Mutation
Genes
Olivary Nucleus
Red Nucleus
129 Citations (Scopus)

Symptom onset in autosomal dominant Alzheimer disease: A systematic review and meta-analysis

Ryman, D. C., Acosta-Baena, N., Aisen, P. S., Bird, T., Danek, A., Fox, N. C., Goate, A., Frommelt, P., Ghetti, B., Langbaum, J. B. S., Lopera, F., Martins, R., Masters, C. L., Mayeux, R. P., McDade, E., Moreno, S., Reiman, E. M., Ringman, J. M., Salloway, S., Schofield, P. R. & 5 others, Sperling, R., Tariot, P. N., Xiong, C., Morris, J. C. & Bateman, R. J., Jul 15 2014, In : Neurology. 83, 3, p. 253-260 8 p.

Research output: Contribution to journalArticle

Age of Onset
Meta-Analysis
Alzheimer Disease
Mutation
Onset
24 Citations (Scopus)

The Tau Tubulin Kinases TTBK1/2 Promote Accumulation of Pathological TDP-43

Liachko, N. F., McMillan, P. J., Strovas, T. J., Loomis, E., Greenup, L., Murrell, J. R., Ghetti, B., Raskind, M. A., Montine, T. J., Bird, T. D., Leverenz, J. B. & Kraemer, B. C., Dec 1 2014, In : PLoS Genetics. 10, 12

Research output: Contribution to journalArticle

Amyotrophic Lateral Sclerosis
Frontotemporal Dementia
phosphorylation
phosphotransferases (kinases)
Phosphotransferases
65 Citations (Scopus)

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

Gallagher, M. D., Suh, E., Grossman, M., Elman, L., McCluskey, L., Van Swieten, J. C., Al-Sarraj, S., Neumann, M., Gelpi, E., Ghetti, B., Rohrer, J. D., Halliday, G., Van Broeckhoven, C., Seilhean, D., Shaw, P. J., Frosch, M. P., Alafuzoff, I., Antonell, A., Bogdanovic, N., Brooks, W. & 56 others, Cairns, N. J., Cooper-Knock, J., Cotman, C., Cras, P., Cruts, M., De Deyn, P. P., Decarli, C., Dobson-Stone, C., Engelborghs, S., Fox, N., Galasko, D., Gearing, M., Gijselinck, I., Grafman, J., Hartikainen, P., Hatanpaa, K. J., Highley, J. R., Hodges, J., Hulette, C., Ince, P. G., Jin, L. W., Kirby, J., Kofler, J., Kril, J., Kwok, J. B. J., Levey, A., Lieberman, A., Llado, A., Martin, J. J., Masliah, E., McDermott, C. J., McKee, A., McLean, C., Mead, S., Miller, C. A., Miller, J., Munoz, D. G., Murrell, J., Paulson, H., Piguet, O., Rossor, M., Sanchez-Valle, R., Sano, M., Schneider, J., Silbert, L. C., Spina, S., Van Der Zee, J., Van Langenhove, T., Warren, J., Wharton, S. B., White, C. L., Woltjer, R. L., Trojanowski, J. Q., Lee, V. M. Y., Van Deerlin, V. & Chen-Plotkin, A. S., Mar 2014, In : Acta Neuropathologica. 127, 3, p. 407-418 12 p.

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
Chromosomes, Human, Pair 9
Open Reading Frames
Age of Onset
Alleles
6 Citations (Scopus)

Visuoperception test predicts pathologic diagnosis of Alzheimer disease in corticobasal syndrome

Boyd, C. D., Tierney, M., Wassermann, E. M., Spina, S., Oblak, A. L., Ghetti, B., Grafman, J. & Huey, E., Aug 5 2014, In : Neurology. 83, 6, p. 510-519 10 p.

Research output: Contribution to journalArticle

Space Perception
Alzheimer Disease
Visual Perception
Odds Ratio
Dementia
2013
171 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
286 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
13 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
40 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
2 Citations (Scopus)

Inge Grundke-Iqbal, Ph.D. (1937-2012): the discoverer of the abnormal hyperphosphorylation of tau in Alzheimer's disease.

Alonso, A. D. C., ElAkkad, E., Gong, C., Liu, F., Tanaka, T., Kudo, T., Tatebayashi, Y., Pei, J., Wang, J., Khatoon, S., Flory, M., Ghetti, B., Gozes, I., Novak, M., Novak, M., Robakis, N. K., de Leon, M. & Iqbal, M., 2013, In : Journal of Molecular Neuroscience. 49, 2, p. 430-435 6 p.

Research output: Contribution to journalArticle

21st Century History
20th Century History
tau Proteins
Neurosciences
Glycosylation
31 Citations (Scopus)

Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations

Sundal, C., Fujioka, S., Van Gerpen, J. A., Wider, C., Nicholson, A. M., Baker, M., Shuster, E. A., Aasly, J., Spina, S., Ghetti, B., Roeber, S., Garbern, J., Tselis, A., Swerdlow, R. H., Miller, B. B., Borjesson-Hanson, A., Uitti, R. J., Ross, O. A., Stoessl, A. J., Rademakers, R. & 4 others, Josephs, K. A., Dickson, D. W., Broderick, D. & Wszolek, Z. K., Oct 2013, In : Parkinsonism and Related Disorders. 19, 10, p. 869-877 9 p.

Research output: Contribution to journalArticle

Colony-Stimulating Factor Receptors
Macrophage Colony-Stimulating Factor
Mutation
Hypokinesia
Parkinsonian Disorders
34 Citations (Scopus)

Phenotypic variability in three families with valosin-containing protein mutation

Spina, S., Van Laar, A. D., Murrell, J. R., Hamilton, R. L., Kofler, J. K., Epperson, F., Farlow, M., Lopez, O. L., Quinlan, J., Dekosky, S. T. & Ghetti, B., Feb 2013, In : European Journal of Neurology. 20, 2, p. 251-258 8 p.

Research output: Contribution to journalArticle

Frontotemporal Dementia
Mutation
Primary Progressive Aphasia
Muscle Weakness
Muscular Diseases