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2019
3 Citations (Scopus)

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
2016
137 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
2017
11 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
2019
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
2018
8 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
2019
2 Citations (Scopus)

An atlas of cortical circular RNA expression in Alzheimer disease brains demonstrates clinical and pathological associations

the Dominantly Inherited Alzheimer Network (DIAN), Nov 1 2019, In : Nature Neuroscience. 22, 11, p. 1903-1912 10 p.

Research output: Contribution to journalArticle

Atlases
Alzheimer Disease
RNA
MicroRNAs
Brain

Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (Nature Genetics, (2019), 51, 3, (414-430), 10.1038/s41588-019-0358-2)

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), Sep 1 2019, In : Nature genetics. 51, 9, p. 1423-1424 2 p.

Research output: Contribution to journalComment/debate

Open Access
Meta-Analysis
Immunity
Alzheimer Disease
Lipids
2016
4 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

2018
14 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
2016
30 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
2017
29 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
7 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
2019
4 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

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
2018
26 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
2016
2 Citations (Scopus)

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
2017
366 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
3 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
2018
1 Citation (Scopus)

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
2019

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
2018
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
2016
23 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
2017
34 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., May 1 2017, In : Acta Neuropathologica. 133, 5, p. 751-765 15 p.

Research output: Contribution to journalArticle

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

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

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

Research output: Contribution to journalArticle

Genome-Wide Association Study
Alzheimer disease
Polymorphism
Gene expression
Alzheimer Disease
2018
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
2016
21 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
2017
45 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

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
2018
8 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
2 Citations (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
2019
44 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
2018
98 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
1 Citation (Scopus)

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

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

Research output: Contribution to journalArticle

Psychiatry
Neurobehavioral Manifestations
Ataxia
Thalamus
Immunohistochemistry
2016
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
4 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

2019
2 Citations (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
2018
42 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
2019
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

C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy

Cali, C. P., Patino, M., Tai, Y. K., Ho, W. Y., McLean, C. A., Morris, C. M., Seeley, W. W., Miller, B. L., Gaig, C., Vonsattel, J. P. G., White, C. L., Roeber, S., Kretzschmar, H., Troncoso, J. C., Troakes, C., Gearing, M., Ghetti, B., Van Deerlin, V. M., Lee, V. M. Y., Trojanowski, J. Q. & 6 others, Mok, K. Y., Ling, H., Dickson, D. W., Schellenberg, G. D., Ling, S. C. & Lee, E. B., Nov 1 2019, In : Acta Neuropathologica. 138, 5, p. 795-811 17 p.

Research output: Contribution to journalArticle

Autophagy
Amyotrophic Lateral Sclerosis
Neurodegenerative Diseases
Autopsy
Clustered Regularly Interspaced Short Palindromic Repeats
2018
11 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
16 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
8 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
2019
9 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)

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
2016
24 Citations (Scopus)
Neurologic Manifestations
Observational Studies
Alzheimer Disease
Age of Onset
Neurobehavioral Manifestations
92 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
2019
1 Citation (Scopus)

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
71 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
2018
14 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
2016
20 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