Bernardino Ghetti

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

2019
1 Citation (Scopus)

4-Repeat tau seeds and templating subtypes as brain and CSF biomarkers of frontotemporal lobar degeneration

Saijo, E., Metrick, M. A., Koga, S., Parchi, P., Litvan, I., Spina, S., Boxer, A., Rojas, J. C., Galasko, D., Kraus, A., Rossi, M., Newell, K., Zanusso, G., Grinberg, L. T., Seeley, W. W., Ghetti, B., Dickson, D. W. & Caughey, B., Jan 1 2019, (Accepted/In press) In : Acta Neuropathologica.

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
Tauopathies
Progressive Supranuclear Palsy
Cerebrospinal Fluid
Seeds
1 Citation (Scopus)

Clinical, pathophysiological and genetic features of motor symptoms in autosomal dominant Alzheimer's disease

Dominantly Inherited Alzheimer Network, May 1 2019, In : Brain : a journal of neurology. 142, 5, p. 1429-1440 12 p.

Research output: Contribution to journalArticle

Alzheimer Disease
Mutation
Basal Ganglia
Amyloid
Dementia

Diffuse Lewy Body Disease and Alzheimer Disease: Neuropathologic Phenotype Associated With the PSEN1 p.A396T Mutation

Gondim, D. D., Oblak, A., Murrell, J. R., Richardson, R., Epperson, F., Ross, O. A. & Ghetti, B., Jul 1 2019, In : Journal of neuropathology and experimental neurology. 78, 7, p. 585-594 10 p.

Research output: Contribution to journalArticle

Synucleins
Lewy Body Disease
Alzheimer Disease
Phenotype
Mutation
3 Citations (Scopus)

FDG-PET patterns associated with underlying pathology in corticobasal syndrome

Pardini, M., Huey, E. D., Spina, S., Kreisl, W. C., Morbelli, S., Wassermann, E. M., Nobili, F., Ghetti, B. & Grafman, J., Mar 5 2019, In : Neurology. 92, 10, p. e1121-e1135

Research output: Contribution to journalArticle

Pathology
Positron-Emission Tomography
Gyrus Cinguli
Basal Ganglia
Progressive Supranuclear Palsy
50 Citations (Scopus)

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Alzheimer Disease Genetics Consortium (ADGC), The European Alzheimer’s Disease Initiative (EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE), & Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES), Mar 1 2019, In : Nature genetics. 51, 3, p. 414-430 17 p.

Research output: Contribution to journalArticle

Meta-Analysis
Immunity
Alzheimer Disease
Lipids
Serum Amyloid A Protein
6 Citations (Scopus)

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

Pottier, C., Ren, Y., Perkerson, R. B., Baker, M., Jenkins, G. D., van Blitterswijk, M., DeJesus-Hernandez, M., van Rooij, J. G. J., Murray, M. E., Christopher, E., McDonnell, S. K., Fogarty, Z., Batzler, A., Tian, S., Vicente, C. T., Matchett, B., Karydas, A. M., Hsiung, G. Y. R., Seelaar, H., Mol, M. O. & 85 others, Finger, E. C., Graff, C., Öijerstedt, L., Neumann, M., Heutink, P., Synofzik, M., Wilke, C., Prudlo, J., Rizzu, P., Simon-Sanchez, J., Edbauer, D., Roeber, S., Diehl-Schmid, J., Evers, B. M., King, A., Mesulam, M. M., Weintraub, S., Geula, C., Bieniek, K. F., Petrucelli, L., Ahern, G. L., Reiman, E. M., Woodruff, B. K., Caselli, R. J., Huey, E. D., Farlow, M., Grafman, J., Mead, S., Grinberg, L. T., Spina, S., Grossman, M., Irwin, D. J., Lee, E. B., Suh, E. R., Snowden, J., Mann, D., Ertekin-Taner, N., Uitti, R. J., Wszolek, Z. K., Josephs, K. A., Parisi, J. E., Knopman, D. S., Petersen, R. C., Hodges, J. R., Piguet, O., Geier, E. G., Yokoyama, J. S., Rissman, R. A., Rogaeva, E., Keith, J., Zinman, L., Tartaglia, M. C., Cairns, N. J., Cruchaga, C., Ghetti, B., Kofler, J., Lopez, O. L., Beach, T. G., Arzberger, T., Herms, J., Honig, L. S., Vonsattel, J. P., Halliday, G. M., Kwok, J. B., White, C. L., Gearing, M., Glass, J., Rollinson, S., Pickering-Brown, S., Rohrer, J. D., Trojanowski, J. Q., Van Deerlin, V., Bigio, E. H., Troakes, C., Al-Sarraj, S., Asmann, Y., Miller, B. L., Graff-Radford, N. R., Boeve, B. F., Seeley, W. W., Mackenzie, I. R. A., van Swieten, J. C., Dickson, D. W., Biernacka, J. M. & Rademakers, R., Jan 1 2019, In : Acta Neuropathologica.

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
Frontotemporal Dementia
Genome
Genes
Mutation
2 Citations (Scopus)

Gerstmann-Sträussler-Scheinker disease revisited: accumulation of covalently-linked multimers of internal prion protein fragments

Cracco, L., Xiao, X., Nemani, S. K., Lavrich, J., Cali, I., Ghetti, B., Notari, S., Surewicz, W. K. & Gambetti, P., May 29 2019, In : Acta neuropathologica communications. 7, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
Creutzfeldt-Jakob Syndrome
Prion Diseases
Molecular Weight
Epitope Mapping
Endopeptidase K
2 Citations (Scopus)

LATE to the PART-y

Josephs, K. A., Mackenzie, I., Frosch, M. P., Bigio, E. H., Neumann, M., Arai, T., Dugger, B. N., Ghetti, B., Grossman, M., Hasegawa, M., Herrup, K., Holton, J., Jellinger, K., Lashley, T., McAleese, K. E., Parisi, J. E., Revesz, T., Saito, Y., Vonsattel, J. P., Whitwell, J. L. & 2 others, Wisniewski, T. & Hu, W., Sep 1 2019, In : Brain : a journal of neurology. 142, 9, p. e47

Research output: Contribution to journalArticle

Open Access

Million-fold sensitivity enhancement in proteopathic seed amplification assays for biospecimens by Hofmeister ion comparisons

Metrick, M. A., do Carmo Ferreira, N., Saijo, E., Hughson, A. G., Kraus, A., Orrú, C., Miller, M. W., Zanusso, G., Ghetti, B., Vendruscolo, M. & Caughey, B., Nov 12 2019, In : Proceedings of the National Academy of Sciences of the United States of America. 116, 46, p. 23029-23039 11 p.

Research output: Contribution to journalArticle

Open Access
Proteostasis Deficiencies
Seeds
Prion Diseases
Prions
Ions
32 Citations (Scopus)

Novel tau filament fold in chronic traumatic encephalopathy encloses hydrophobic molecules

Falcon, B., Zivanov, J., Zhang, W., Murzin, A. G., Garringer, H., Vidal, R., Crowther, R. A., Newell, K. L., Ghetti, B., Goedert, M. & Scheres, S. H. W., Jan 1 2019, In : Nature.

Research output: Contribution to journalLetter

Alzheimer Disease
Tauopathies
Brain
Chronic Traumatic Encephalopathy
Pick Disease of the Brain
5 Citations (Scopus)

Seizures as an early symptom of autosomal dominant Alzheimer's disease

Dominantly Inherited Alzheimer Network, Apr 1 2019, In : Neurobiology of Aging. 76, p. 18-23 6 p.

Research output: Contribution to journalArticle

Alzheimer Disease
Seizures
Mutation
Mutation Rate
Observational Studies
41 Citations (Scopus)

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

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

Research output: Contribution to journalLetter

Asymptomatic Diseases
Intermediate Filaments
Alzheimer Disease
Light
Serum

Silver staining (Campbell-Switzer) of neuronal α-synuclein assemblies induced by multiple system atrophy and Parkinson's disease brain extracts in transgenic mice

Lavenir, I., Passarella, D., Masuda-Suzukake, M., Curry, A., Holton, J. L., Ghetti, B. & Goedert, M., Sep 16 2019, In : Acta neuropathologica communications. 7, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
Synucleins
Multiple System Atrophy
Silver Staining
Transgenic Mice
Parkinson Disease

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

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

Research output: Contribution to journalArticle

Open Access
Tauopathies
Prions
Polymorphism
Brain
Alzheimer Disease

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

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

Research output: Contribution to journalArticle

Open Access
Synucleins
Lewy Body Disease
Cerebrospinal Fluid
Pathology
Neurodegenerative Diseases
2018
1 Citation (Scopus)

Detection of tau in Gerstmann-Sträussler-Scheinker disease (PRNP F198S) by [18F]Flortaucipir PET

Risacher, S. L., Farlow, M., Bateman, D. R., Epperson, F., Tallman, E. F., Richardson, R., Murrell, J. R., Unverzagt, F., Apostolova, L. G., Bonnin, J., Ghetti, B. & Saykin, A., Oct 29 2018, In : Acta neuropathologica communications. 6, 1, 1 p.

Research output: Contribution to journalArticle

Psychiatry
Neurobehavioral Manifestations
Ataxia
Thalamus
Immunohistochemistry

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

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

Research output: Contribution to journalArticle

Open Access
Pick Disease of the Brain
Alzheimer Disease
Amino Acids
Protein Isoforms
Cryoelectron Microscopy
4 Citations (Scopus)

Dominantly inherited prion protein cerebral amyloidoses – a modern view of Gerstmann–Sträussler–Scheinker

Ghetti, B., Piccardo, P. & Zanusso, G., Jan 1 2018, Handbook of Clinical Neurology. Elsevier B.V., p. 243-269 27 p. (Handbook of Clinical Neurology; vol. 153).

Research output: Chapter in Book/Report/Conference proceedingChapter

Amyloid
Phenotype
Mutation
Prions
Brain Diseases
1 Citation (Scopus)

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

Newell, K., Paron, F., Mompean, M., Murrell, J., Salis, E., Stuani, C., Pattee, G., Romano, M., Laurents, D., Ghetti, B. & Buratti, E., Jan 1 2018, (Accepted/In press) In : Brain Pathology.

Research output: Contribution to journalArticle

Amyotrophic Lateral Sclerosis
Skeletal Muscle
Phosphorylation
Muscle Denervation
Pyramidal Tracts

Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease

International Genomics of Alzheimer's Project (IGAP), ARUK Consortium & GERAD/PERADES, CHARGE, ADGC, EADI, Jan 1 2018, In : Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring. 10, p. 595-598 4 p.

Research output: Contribution to journalArticle

Cholesterol Ester Transfer Proteins
HDL Cholesterol
Alzheimer Disease
Genes
Single Nucleotide Polymorphism
2 Citations (Scopus)

Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network

Karch, C. M., Hernández, D., Wang, J. C., Marsh, J., Hewitt, A. W., Hsu, S., Norton, J., Levitch, D., Donahue, T., Sigurdson, W., Ghetti, B., Farlow, M., Chhatwal, J., Berman, S., Cruchaga, C., Morris, J. C., Bateman, R. J., Pébay, A. & Goate, A. M., Jul 25 2018, In : Alzheimer's Research and Therapy. 10, 1, 69.

Research output: Contribution to journalArticle

Presenilin-2
Presenilin-1
Amyloid beta-Protein Precursor
Stem Cells
Fibroblasts
13 Citations (Scopus)

Living Neurons with Tau Filaments Aberrantly Expose Phosphatidylserine and Are Phagocytosed by Microglia

Brelstaff, J., Tolkovsky, A. M., Ghetti, B., Goedert, M. & Spillantini, M. G., Aug 21 2018, In : Cell Reports. 24, 8, p. 1939-1948.e4

Research output: Contribution to journalArticle

Phosphatidylserines
Microglia
Phagocytosis
Neurons
Tauopathies
18 Citations (Scopus)

Longitudinal cognitive and biomarker changes in dominantly inherited Alzheimer disease

Dominantly Inherited Alzheimer Network, Oct 2 2018, In : Neurology. 91, 14, p. e1295-e1306

Research output: Contribution to journalArticle

Alzheimer Disease
Biomarkers
Amyloidosis
Amyloid
Neuroimaging
6 Citations (Scopus)

Molecular subtypes of Alzheimer's disease

Di Fede, G., Catania, M., Maderna, E., Ghidoni, R., Benussi, L., Tonoli, E., Giaccone, G., Moda, F., Paterlini, A., Campagnani, I., Sorrentino, S., Colombo, L., Kubis, A., Bistaffa, E., Ghetti, B. & Tagliavini, F., Dec 1 2018, In : Scientific Reports. 8, 1, 3269.

Research output: Contribution to journalArticle

Alzheimer Disease
Amyloid
Brain
Amyloidosis
Phenotype
7 Citations (Scopus)

Pathological phosphorylation of tau and TDP-43 by TTBK1 and TTBK2 drives neurodegeneration

Taylor, L. M., McMillan, P. J., Liachko, N. F., Strovas, T. J., Ghetti, B., Bird, T. D., Dirk Keene, C. & Kraemer, B. C., Feb 6 2018, In : Molecular Neurodegeneration. 13, 1, 7.

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
Phosphorylation
Neurons
Phosphotransferases
Transgenes
13 Citations (Scopus)

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

Pottier, C., Zhou, X., Perkerson, R. B., Baker, M., Jenkins, G. D., Serie, D. J., Ghidoni, R., Benussi, L., Binetti, G., López de Munain, A., Zulaica, M., Moreno, F., Le Ber, I., Pasquier, F., Hannequin, D., Sánchez-Valle, R., Antonell, A., Lladó, A., Parsons, T. M., Finch, N. C. A. & 113 others, Finger, E. C., Lippa, C. F., Huey, E. D., Neumann, M., Heutink, P., Synofzik, M., Wilke, C., Rissman, R. A., Slawek, J., Sitek, E., Johannsen, P., Nielsen, J. E., Ren, Y., van Blitterswijk, M., DeJesus-Hernandez, M., Christopher, E., Murray, M. E., Bieniek, K. F., Evers, B. M., Ferrari, C., Rollinson, S., Richardson, A., Scarpini, E., Fumagalli, G. G., Padovani, A., Hardy, J., Momeni, P., Ferrari, R., Frangipane, F., Maletta, R., Anfossi, M., Gallo, M., Petrucelli, L., Suh, E. R., Lopez, O. L., Wong, T. H., van Rooij, J. G. J., Seelaar, H., Mead, S., Caselli, R. J., Reiman, E. M., Noel Sabbagh, M., Kjolby, M., Nykjaer, A., Karydas, A. M., Boxer, A. L., Grinberg, L. T., Grafman, J., Spina, S., Oblak, A., Mesulam, M. M., Weintraub, S., Geula, C., Hodges, J. R., Piguet, O., Brooks, W. S., Irwin, D. J., Trojanowski, J. Q., Lee, E. B., Josephs, K. A., Parisi, J. E., Ertekin-Taner, N., Knopman, D. S., Nacmias, B., Piaceri, I., Bagnoli, S., Sorbi, S., Gearing, M., Glass, J., Beach, T. G., Black, S. E., Masellis, M., Rogaeva, E., Vonsattel, J. P., Honig, L. S., Kofler, J., Bruni, A. C., Snowden, J., Mann, D., Pickering-Brown, S., Diehl-Schmid, J., Winkelmann, J., Galimberti, D., Graff, C., Öijerstedt, L., Troakes, C., Al-Sarraj, S., Cruchaga, C., Cairns, N. J., Rohrer, J. D., Halliday, G. M., Kwok, J. B., van Swieten, J. C., White, C. L., Ghetti, B., Murell, J. R., Mackenzie, I. R. A., Hsiung, G. Y. R., Borroni, B., Rossi, G., Tagliavini, F., Wszolek, Z. K., Petersen, R. C., Bigio, E. H., Grossman, M., Van Deerlin, V. M., Seeley, W. W., Miller, B. L., Graff-Radford, N. R., Boeve, B. F., Dickson, D. W., Biernacka, J. M. & Rademakers, R., Jun 1 2018, In : The Lancet Neurology. 17, 6, p. 548-558 11 p.

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
Inborn Genetic Diseases
Genome-Wide Association Study
Age of Onset
Meta-Analysis
8 Citations (Scopus)

Preferential degradation of cognitive networks differentiates Alzheimer's disease from ageing

Chhatwal, J. P., Schultz, A. P., Johnson, K. A., Hedden, T., Jaimes, S., Benzinger, T. L. S., Jack, C., Ances, B. M., Ringman, J. M., Marcus, D. S., Ghetti, B., Farlow, M., Danek, A., Levin, J., Yakushev, I., Laske, C., Koeppe, R. A., Galasko, D. R., Xiong, C., Masters, C. L. & 10 others, Schofield, P. R., Kinnunen, K. M., Salloway, S., Martins, R. N., McDade, E., Cairns, N. J., Buckles, V. D., Morris, J. C., Bateman, R. & Sperling, R. A., May 1 2018, In : Brain. 141, 5, p. 1486-1500 15 p.

Research output: Contribution to journalArticle

Alzheimer Disease
Biomarkers
Magnetic Resonance Imaging
Pathology
Amyloid
10 Citations (Scopus)

Presymptomatic atrophy in autosomal dominant Alzheimer's disease: A serial magnetic resonance imaging study

for the, Jan 1 2018, In : Alzheimer's and Dementia. 14, 1, p. 43-53 11 p.

Research output: Contribution to journalArticle

Atrophy
Alzheimer Disease
Magnetic Resonance Imaging
Cytomegalovirus Infections
Disease Progression
37 Citations (Scopus)

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

Groveman, B. R., Orrù, C. D., Hughson, A. G., Raymond, L. D., Zanusso, G., Ghetti, B., Campbell, K. J., Safar, J., Galasko, D. & Caughey, B., Feb 8 2018, In : Journal of Biological Research (Greece). 25, 1, 7.

Research output: Contribution to journalArticle

Synucleins
Cerebrospinal fluid
cerebrospinal fluid
Cerebrospinal Fluid
Seed
7 Citations (Scopus)

Relationship between physical activity, cognition, and Alzheimer pathology in autosomal dominant Alzheimer's disease

Dominantly Inherited Alzheimer Network (DIAN), Nov 1 2018, In : Alzheimer's & dementia : the journal of the Alzheimer's Association. 14, 11, p. 1427-1437 11 p.

Research output: Contribution to journalArticle

Cognition
Alzheimer Disease
Pathology
Mutation
Cerebrospinal Fluid
8 Citations (Scopus)

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

Kraus, A., Saijo, E., Metrick, M. A., Newell, K., Sigurdson, C. J., Zanusso, G., Ghetti, B. & Caughey, B., Jan 1 2018, (Accepted/In press) In : Acta Neuropathologica.

Research output: Contribution to journalArticle

Alzheimer Disease
Tauopathies
Seeds
Brain
Polymerization
22 Citations (Scopus)

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

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

Research output: Contribution to journalArticle

Apolipoproteins
Apolipoproteins E
Cerebrospinal Fluid
Alzheimer Disease
Neurofibrillary Tangles
13 Citations (Scopus)

Sex-specific genetic predictors of Alzheimer’s disease biomarkers

Alzheimer’s Disease Neuroimaging Initiative (ADNI) & The Alzheimer Disease Genetics Consortium (Adgc), Jul 2 2018, (Accepted/In press) In : Acta Neuropathologica. p. 1-16 16 p.

Research output: Contribution to journalArticle

Alzheimer Disease
Biomarkers
Genome-Wide Association Study
Amyloid
Endophenotypes
82 Citations (Scopus)

Structures of filaments from Pick’s disease reveal a novel tau protein fold

Falcon, B., Zhang, W., Murzin, A. G., Murshudov, G., Garringer, H., Vidal, R., Crowther, R. A., Ghetti, B., Scheres, S. H. W. & Goedert, M., Sep 6 2018, In : Nature. 561, 7721, p. 137-140 4 p.

Research output: Contribution to journalLetter

Pick Disease of the Brain
tau Proteins
Alzheimer Disease
Protein Isoforms
Cryoelectron Microscopy
21 Citations (Scopus)

Tau filaments from multiple cases of sporadic and inherited Alzheimer’s disease adopt a common fold

Falcon, B., Zhang, W., Schweighauser, M., Murzin, A. G., Vidal, R., Garringer, H., Ghetti, B., Scheres, S. H. W. & Goedert, M., Jan 1 2018, (Accepted/In press) In : Acta Neuropathologica.

Research output: Contribution to journalArticle

Alzheimer Disease
Gold
Electron Microscopy
Coloring Agents
Frontal Lobe
7 Citations (Scopus)

White matter hyperintensities and the mediating role of cerebral amyloid angiopathy in dominantly-inherited Alzheimer’s disease

Lee, S., Zimmerman, M. E., Narkhede, A., Nasrabady, S. E., Tosto, G., Meier, I. B., Benzinger, T. L. S., Marcus, D. S., Fagan, A. M., 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., Fӧrster, S. & 12 others, Schofield, P. R., Sperling, R. A., Johnson, K. A., Chhatwal, J. P., Salloway, S., Correia, S., Jack, C. R., Weiner, M., Bateman, R. J., Morris, J. C., Mayeux, R. & Brickman, A. M., May 1 2018, In : PLoS One. 13, 5, e0195838.

Research output: Contribution to journalArticle

Cerebral Amyloid Angiopathy
amyloid
Alzheimer disease
Amyloid
Alzheimer Disease
2017
2 Citations (Scopus)

Amyloid and intracellular accumulation of BRI2

Garringer, H., Sammeta, N., Oblak, A., Ghetti, B. & Vidal, R., Apr 1 2017, In : Neurobiology of Aging. 52, p. 90-97 8 p.

Research output: Contribution to journalArticle

Amyloid
Neurites
Alzheimer Disease
Neurofibrillary Tangles
Proteins
42 Citations (Scopus)

Amyloid polymorphisms constitute distinct clouds of conformational variants in different etiological subtypes of Alzheimer’s disease

Rasmussen, J., Mahler, J., Beschorner, N., Kaeser, S. A., Häsler, L. M., Baumann, F., Nyström, S., Portelius, E., Blennow, K., Lashley, T., Fox, N. C., Sepulveda-Falla, D., Glatzel, M., Oblak, A. L., Ghetti, B., Nilsson, K. P. R., Hammarström, P., Staufenbiel, M., Walker, L. C. & Jucker, M., Dec 5 2017, In : Proceedings of the National Academy of Sciences of the United States of America. 114, 49, p. 13018-13023 6 p.

Research output: Contribution to journalArticle

Amyloid
Alzheimer Disease
Amyloid Plaques
Brain
Phenotype
28 Citations (Scopus)

Comparative binding properties of the tau PET tracers THK5117, THK5351, PBB3, and T807 in postmortem Alzheimer brains

Lemoine, L., Gillberg, P. G., Svedberg, M., Stepanov, V., Jia, Z., Huang, J., Nag, S., Tian, H., Ghetti, B., Okamura, N., Higuchi, M., Halldin, C. & Nordberg, A., Dec 11 2017, In : Alzheimer's Research and Therapy. 9, 1, 96.

Research output: Contribution to journalArticle

Brain
Selegiline
Hippocampus
Monoamine Oxidase
Autoradiography
332 Citations (Scopus)

Cryo-EM structures of tau filaments from Alzheimer's disease

Fitzpatrick, A. W. P., Falcon, B., He, S., Murzin, A. G., Murshudov, G., Garringer, H., Crowther, R. A., Ghetti, B., Goedert, M. & Scheres, S. H. W., Jul 13 2017, In : Nature. 547, 7662, p. 185-190 6 p.

Research output: Contribution to journalArticle

Neurodegenerative Diseases
Cryoelectron Microscopy
Alzheimer Disease
tau Proteins
Amyloid Plaques
35 Citations (Scopus)

Cytosolic Fc receptor TRIM21 inhibits seeded tau aggregation

McEwan, W. A., Falcon, B., Vaysburd, M., Clift, D., Oblak, A. L., Ghetti, B., Goedert, M. & James, L. C., Jan 17 2017, In : Proceedings of the National Academy of Sciences of the United States of America. 114, 3, p. 574-579 6 p.

Research output: Contribution to journalArticle

Fc Receptors
Seeds
tau Proteins
Virus Diseases
Proteasome Endopeptidase Complex
10 Citations (Scopus)

Decreased body mass index in the preclinical stage of autosomal dominant Alzheimer's disease

Müller, S., Preische, O., Sohrabi, H. R., Gräber, S., Jucker, M., Dietzsch, J., Ringman, J. M., Martins, R. N., McDade, E., Schofield, P. R., Ghetti, B., Rossor, M., Graff-Radford, N. R., Levin, J., Galasko, D., Quaid, K. A., Salloway, S., Xiong, C., Benzinger, T., Buckles, V. & 5 others, Masters, C. L., Sperling, R., Bateman, R. J., Morris, J. C. & Laske, C., Dec 1 2017, In : Scientific Reports. 7, 1, 1225.

Research output: Contribution to journalArticle

Alzheimer Disease
Body Mass Index
Mutation
Episodic Memory
Amyloid
6 Citations (Scopus)

Novel strain properties distinguishing sporadic prion diseases sharing prion protein genotype and prion type

Cracco, L., Notari, S., Cali, I., Sy, M. S., Chen, S. G., Cohen, M. L., Ghetti, B., Appleby, B. S., Zou, W. Q., Caughey, B., Safar, J. G. & Gambetti, P., Jan 16 2017, In : Scientific Reports. 7, 38280.

Research output: Contribution to journalArticle

PrPSc Proteins
Prion Diseases
Prions
Genotype
Sleep Initiation and Maintenance Disorders
187 Citations (Scopus)

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

Sims, R., Van Der Lee, S. J., Naj, A. C., Bellenguez, C., Badarinarayan, N., Jakobsdottir, J., Kunkle, B. W., Boland, A., Raybould, R., Bis, J. C., Martin, E. R., Grenier-Boley, B., Heilmann-Heimbach, S., Chouraki, V., Kuzma, A. B., Sleegers, K., Vronskaya, M., Ruiz, A., Graham, R. R., Olaso, R. & 429 others, Hoffmann, P., Grove, M. L., Vardarajan, B. N., Hiltunen, M., Nöthen, M. M., White, C. C., Hamilton-Nelson, K. L., Epelbaum, J., Maier, W., Choi, S. H., Beecham, G. W., Dulary, C., Herms, S., Smith, A. V., Funk, C. C., Derbois, C., Forstner, A. J., Ahmad, S., Li, H., Bacq, D., Harold, D., Satizabal, C. L., Valladares, O., Squassina, A., Thomas, R., Brody, J. A., Qu, L., Sánchez-Juan, P., Morgan, T., Wolters, F. J., Zhao, Y., Garcia, F. S., Denning, N., Fornage, M., Malamon, J., Naranjo, M. C. D., Majounie, E., Mosley, T. H., Dombroski, B., Wallon, D., Lupton, M. K., Dupuis, J., Whitehead, P., Fratiglioni, L., Medway, C., Jian, X., Mukherjee, S., Keller, L., Brown, K., Lin, H., Cantwell, L. B., Panza, F., McGuinness, B., Moreno-Grau, S., Burgess, J. D., Solfrizzi, V., Proitsi, P., Adams, H. H., Allen, M., Seripa, D., Pastor, P., Cupples, L. A., Price, N. D., Hannequin, D., Frank-García, A., Levy, D., Chakrabarty, P., Caffarra, P., Giegling, I., Beiser, A. S., Giedraitis, V., Hampel, H., Garcia, M. E., Wang, X., Lannfelt, L., Mecocci, P., Eiriksdottir, G., Crane, P. K., Pasquier, F., Boccardi, V., Henández, I., Barber, R. C., Scherer, M., Tarraga, L., Adams, P. M., Leber, M., Chen, Y., Albert, M. S., Riedel-Heller, S., Emilsson, V., Beekly, D., Braae, A., Schmidt, R., Blacker, D., Masullo, C., Schmidt, H., Doody, R. S., Spalletta, G., Jr, W. T. L., Fairchild, T. J., Bossù, P., Lopez, O. L., Frosch, M. P., Sacchinelli, E., Ghetti, B., Yang, Q., Huebinger, R. M., Jessen, F., Li, S., Kamboh, M. I., Morris, J., Sotolongo-Grau, O., Katz, M. J., Corcoran, C., Dunstan, M., Braddel, A., Thomas, C., Meggy, A., Marshall, R., Gerrish, A., Chapman, J., Aguilar, M., Taylor, S., Hill, M., Fairén, M. D., Hodges, A., Vellas, B., Soininen, H., Kloszewska, I., Daniilidou, M., Uphill, J., Patel, Y., Hughes, J. T., Lord, J., Turton, J., Hartmann, A. M., Cecchetti, R., Fenoglio, C., Serpente, M., Arcaro, M., Caltagirone, C., Orfei, M. D., Ciaramella, A., Pichler, S., Mayhaus, M., Gu, W., Lleó, A., Fortea, J., Blesa, R., Barber, I. S., Brookes, K., Cupidi, C., Maletta, R. G., Carrell, D., Sorbi, S., Moebus, S., Urbano, M., Pilotto, A., Kornhuber, J., Bosco, P., Todd, S., Craig, D., Johnston, J., Gill, M., Lawlor, B., Lynch, A., Fox, N. C., Hardy, J., Albin, R. L., Apostolova, L. G., Arnold, S. E., Asthana, S., Atwood, C. S., Baldwin, C. T., Barnes, L. L., Barral, S., Beach, T. G., Becker, J. T., Bigio, E. H., Bird, T. D., Boeve, B. F., Bowen, J. D., Boxer, A., Burke, J. R., Burns, J. M., Buxbaum, J. D., Cairns, N. J., Cao, C., Carlson, C. S., Carlsson, C. M., Carney, R. M., Carrasquillo, M. M., Carroll, S. L., Diaz, C. C., Chui, H. C., Clark, D. G., Cribbs, D. H., Crocco, E. A., Decarli, C., Dick, M., Duara, R., Evans, D. A., Faber, K. M., Fallon, K. B., Fardo, D. W., Farlow, M., Ferris, S., Foroud, T., Galasko, D. R., Gearing, M., Geschwind, D. H., Gilbert, J. R., Graff-Radford, N. R., Green, R. C., Growdon, J. H., Hamilton, R. L., Harrell, L. E., Honig, L. S., Huentelman, M. J., Hulette, C. M., Hyman, B. T., Jarvik, G. P., Abner, E., Jin, L. W., Jun, G., Karydas, A., Kaye, J. A., Kim, R., Kowall, N. W., Kramer, J. H., Laferla, F. M., Lah, J. J., Leverenz, J. B., Levey, A. I., Li, G., Lieberman, A. P., Lunetta, K. L., Lyketsos, C. G., Marson, D. C., Martiniuk, F., Mash, D. C., Masliah, E., McCormick, W. C., McCurry, S. M., McDavid, A. N., McKee, A. C., Mesulam, M., Miller, B. L., Miller, C. A., Miller, J. W., Morris, J. C., Murrell, J. R., Myers, A. J., O'Bryant, S., Olichney, J. M., Pankratz, V. S., Parisi, J. E., Paulson, H. L., Perry, W., Peskind, E., Pierce, A., Poon, W. W., Potter, H., Quinn, J. F., Raj, A., Raskind, M., Reisberg, B., Reitz, C., Ringman, J. M., Roberson, E. D., Rogaeva, E., Rosen, H. J., Rosenberg, R. N., Saykin, A., Saykin, A. J., Schneider, J. A., Schneider, L. S., Seeley, W. W., Smith, A. G., Sonnen, J. A., Spina, S., Stern, R. A., Swerdlow, R. H., Tanzi, R. E., Thornton-Wells, T. A., Trojanowski, J. Q., Troncoso, J. C., Van Deerlin, V. M., Van Eldik, L. J., Vinters, H. V., Vonsattel, J. P., Weintraub, S., Welsh-Bohmer, K. A., Wilhelmsen, K. C., Williamson, J., Wingo, T. S., Woltjer, R. L., Wright, C. B., Yu, C. E., Yu, L., Garzia, F., Golamaully, F., Septier, G., Engelborghs, S., Vandenberghe, R., De Deyn, P. P., Fernadez, C. M., Benito, Y. A., Thonberg, H., Forsell, C., Lilius, L., Kinhult-Stählbom, A., Kilander, L., Brundin, R., Concari, L., Helisalmi, S., Koivisto, A. M., Haapasalo, A., Dermecourt, V., Fievet, N., Hanon, O., Dufouil, C., Brice, A., Ritchie, K., Dubois, B., Himali, J. J., Keene, C. D., Tschanz, J., Fitzpatrick, A. L., Kukull, W. A., Norton, M., Aspelund, T., Larson, E. B., Munger, R., Rotter, J. I., Lipton, R. B., Bullido, M. J., Hofman, A., Montine, T. J., Coto, E., Boerwinkle, E., Petersen, R. C., Alvarez, V., Rivadeneira, F., Reiman, E. M., Gallo, M., O'Donnell, C. J., Reisch, J. S., Bruni, A. C., Royall, D. R., Dichgans, M., Sano, M., Galimberti, D., St George-Hyslop, P., Scarpini, E., Tsuang, D. W., Mancuso, M., Bonuccelli, U., Winslow, A. R., Daniele, A., Wu, C. K., Peters, O., Nacmias, B., Riemenschneider, M., Heun, R., Brayne, C., Rubinsztein, D. C., Bras, J., Guerreiro, R., Al-Chalabi, A., Shaw, C. E., Collinge, J., Mann, D., Tsolaki, M., Clarimón, J., Sussams, R., Lovestone, S., O'Donovan, M. C., Owen, M. J., Behrens, T. W., Mead, S., Goate, A. M., Uitterlinden, A. G., Holmes, C., Cruchaga, C., Ingelsson, M., Bennett, D. A., Powell, J., Golde, T. E., Graff, C., De Jager, P. L., Morgan, K., Ertekin-Taner, N., Combarros, O., Psaty, B. M., Passmore, P., Younkin, S. G., Berr, C., Gudnason, V., Rujescu, D., Dickson, D. W., Dartigues, J. F., Destefano, A. L., Ortega-Cubero, S., Hakonarson, H., Campion, D., Boada, M., Kauwe, J. K., Farrer, L. A., Van Broeckhoven, C., Ikram, M. A., Jones, L., Haines, J. L., Tzourio, C., Launer, L. J., Escott-Price, V., Mayeux, R., Deleuze, J. F., Amin, N., Holmans, P. A., Pericak-Vance, M. A., Amouyel, P., Van Duijn, C. M., Ramirez, A., Wang, L. S., Lambert, J. C., Seshadri, S., Williams, J. & Schellenberg, G. D., Sep 1 2017, In : Nature Genetics. 49, 9, p. 1373-1384 12 p.

Research output: Contribution to journalArticle

Innate Immunity
Gene Frequency
Alzheimer Disease
Odds Ratio
Microglia

The CNS in inbred transgenic models of 4-repeat Tauopathy develops consistent tau seeding capacity yet focal and diverse patterns of protein deposition

Eskandari-Sedighi, G., Daude, N., Gapeshina, H., Sanders, D. W., Kamali-Jamil, R., Yang, J., Shi, B., Wille, H., Ghetti, B., Diamond, M. I., Janus, C. & Westaway, D., Oct 4 2017, In : Molecular Neurodegeneration. 12, 1, 72.

Research output: Contribution to journalArticle

Tauopathies
Transgenic Mice
Transgenes
Proteins
Pathology
32 Citations (Scopus)

Ultrasensitive and selective detection of 3-repeat tau seeding activity in Pick disease brain and cerebrospinal fluid

Saijo, E., Ghetti, B., Zanusso, G., Oblak, A., Furman, J. L., Diamond, M. I., Kraus, A. & Caughey, B., Mar 14 2017, (Accepted/In press) In : Acta Neuropathologica. p. 1-15 15 p.

Research output: Contribution to journalArticle

Pick Disease of the Brain
Cerebrospinal Fluid
Alzheimer Disease
Tauopathies
Progressive Supranuclear Palsy
2016
132 Citations (Scopus)

Aging-related tau astrogliopathy (ARTAG): harmonized evaluation strategy

Kovacs, G. G., Ferrer, I., Grinberg, L. T., Alafuzoff, I., Attems, J., Budka, H., Cairns, N. J., Crary, J. F., Duyckaerts, C., Ghetti, B., Halliday, G. M., Ironside, J. W., Love, S., Mackenzie, I. R., Munoz, D. G., Murray, M. E., Nelson, P. T., Takahashi, H., Trojanowski, J. Q., Ansorge, O. & 52 others, Arzberger, T., Baborie, A., Beach, T. G., Bieniek, K. F., Bigio, E. H., Bodi, I., Dugger, B. N., Feany, M., Gelpi, E., Gentleman, S. M., Giaccone, G., Hatanpaa, K. J., Heale, R., Hof, P. R., Hofer, M., Hortobágyi, T., Jellinger, K., Jicha, G. A., Ince, P., Kofler, J., Kövari, E., Kril, J. J., Mann, D. M., Matej, R., McKee, A. C., McLean, C., Milenkovic, I., Montine, T. J., Murayama, S., Lee, E. B., Rahimi, J., Rodriguez, R. D., Rozemüller, A., Schneider, J. A., Schultz, C., Seeley, W., Seilhean, D., Smith, C., Tagliavini, F., Takao, M., Thal, D. R., Toledo, J. B., Tolnay, M., Troncoso, J. C., Vinters, H. V., Weis, S., Wharton, S. B., White, C. L., Wisniewski, T., Woulfe, J. M., Yamada, M. & Dickson, D. W., Jan 1 2016, In : Acta Neuropathologica. 131, 1, p. 87-102 16 p.

Research output: Contribution to journalArticle

Astrocytes
Tauopathies
Documentation
Brain
Pathology
6 Citations (Scopus)

Altered localization and functionality of TAR DNA binding protein 43 (TDP-43) in niemann-pick disease type C

Dardis, A., Zampieri, S., Canterini, S., Newell, K. L., Stuani, C., Murrell, J. R., Ghetti, B., Fiorenza, M. T., Bembi, B. & Buratti, E., 2016, In : Acta neuropathologica communications. 4, 1, 52.

Research output: Contribution to journalArticle

Type C Niemann-Pick Disease
DNA-Binding Proteins
Therapeutic Human Experimentation
Cerebellar Nuclei
Purkinje Cells
30 Citations (Scopus)

Alzheimer's disease risk polymorphisms regulate gene expression in the ZCWPW1 and the CELF1 loci

Alzheimer's Disease Genetics Consortium (ADGC), Feb 1 2016, In : PLoS One. 11, 2, e0148717.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Alzheimer disease
Polymorphism
Gene expression
Alzheimer Disease
19 Citations (Scopus)

Assessment of the genetic variance of late-onset Alzheimer's disease

Alzheimer's Disease Genetics Consortium (ADGC), May 1 2016, In : Neurobiology of Aging. 41, p. 200.e13-200.e20

Research output: Contribution to journalArticle

Alzheimer Disease
Single Nucleotide Polymorphism
Inborn Genetic Diseases
Amyloid beta-Protein Precursor
Myeloid Cells