Bernardino Ghetti

  • 29006 Citations
  • 80 h-Index
1967 …2021
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Publications 1967 2019

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2019

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
1 Citation (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
30 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
5 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

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

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

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

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
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

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
11 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
9 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
4 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
6 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
11 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
7 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
30 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
4 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
1 Citation (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
8 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
7 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
8 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
6 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
37 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
21 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
248 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
34 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
147 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. 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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
26 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
108 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
27 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
13 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
16 Citations (Scopus)

Cerebellar Amyloid-β plaques: How frequent are they, and do they influence 18F-Florbetaben SUV ratios?

Catafau, A. M., Bullich, S., Seibyl, J. P., Barthel, H., Ghetti, B., Leverenz, J., Ironside, J. W., Schulz-Schaeffer, W. J., Hoffmann, A. & Sabri, O., Nov 1 2016, In : Journal of Nuclear Medicine. 57, 11, p. 1740-1745 6 p.

Research output: Contribution to journalArticle

Amyloid Plaques
Blood Vessels
Cerebral Cortex
Cerebellar Cortex
Gyrus Cinguli

Clinicopathological Correlates in a PRNP P102L Mutation Carrier with Rapidly Progressing Parkinsonism-Dystonia

Umeh, C. C., Kalakoti, P., Greenberg, M. K., Notari, S., Cohen, Y., Gambetti, P., Oblak, A. L., Ghetti, B. & Mari, Z., Jul 1 2016, In : Movement Disorders Clinical Practice. 3, 4, p. 355-358 4 p.

Research output: Contribution to journalArticle

Dystonia
Parkinsonian Disorders
Mutation
Molecular Biology
Magnetic Resonance Spectroscopy
9 Citations (Scopus)

Effect of systemic iron overload and a chelation therapy in a mouse model of the neurodegenerative disease hereditary ferritinopathy

Garringer, H., Irimia, J. M., Li, W., Goodwin, C. B., Richine, B., Acton, A., Chan, R., Peacock, M., Muhoberac, B. B., Ghetti, B. & Vidal, R., Aug 1 2016, In : PLoS One. 11, 8, e0161341.

Research output: Contribution to journalArticle

Neurodegenerative diseases
Chelation Therapy
iron overload
Iron Overload
chelation
2 Citations (Scopus)

Fulminant corticobasal degeneration: Agrypnia excitata in corticobasal syndrome

Rodriguez-Porcel, F., Lowder, L., Rademakers, R., Ravenscroft, T., Ghetti, B., Hagen, M. C. & Espay, A. J., Mar 22 2016, In : Neurology. 86, 12, p. 1164-1166 3 p.

Research output: Contribution to journalArticle

28 Citations (Scopus)

Gerstmann-Sträussler-Scheinker disease subtypes efficiently transmit in bank voles as genuine prion diseases

Pirisinu, L., Di Bari, M. A., D'Agostino, C., Marcon, S., Riccardi, G., Poleggi, A., Cohen, M. L., Appleby, B. S., Gambetti, P., Ghetti, B., Agrimi, U. & Nonno, R., Feb 4 2016, In : Scientific Reports. 6, 20443.

Research output: Contribution to journalArticle

Arvicolinae
Prion Diseases
Peptide Hydrolases
Rodent Diseases
Mutation
80 Citations (Scopus)

Identification of TMEM230 mutations in familial Parkinson's disease

Deng, H. X., Shi, Y., Yang, Y., Ahmeti, K. B., Miller, N., Huang, C., Cheng, L., Zhai, H., Deng, S., Nuytemans, K., Corbett, N. J., Kim, M. J., Deng, H., Tang, B., Yang, Z., Xu, Y., Chan, P., Huang, B., Gao, X. P., Song, Z. & 14 others, Liu, Z., Fecto, F., Siddique, N., Foroud, T., Jankovic, J., Ghetti, B., Nicholson, D. A., Krainc, D., Melen, O., Vance, J. M., Pericak-Vance, M. A., Ma, Y. C., Rajput, A. H. & Siddique, T., Jul 1 2016, In : Nature Genetics. 48, 7, p. 733-739 7 p.

Research output: Contribution to journalArticle

Parkinson Disease
Mutation
Synaptic Vesicles
Chromosomes, Human, Pair 20
Neurons
25 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