Bernardino Ghetti

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

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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
1 Citation (Scopus)

Old age before cognitive impairment

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

Research output: Contribution to journalArticle

Cognition Disorders
Memory Disorders
Cognitive Dysfunction
18 Citations (Scopus)

On degeneration of terminals in the cat striate cortex

Ghetti, B. & Wiśniewski, H. M., Sep 29 1972, In : Brain Research. 44, 2, p. 630-635 6 p.

Research output: Contribution to journalArticle

Geniculate Bodies
Neural Pathways
Nerve Degeneration
Visual Cortex
Axons
71 Citations (Scopus)

On the association between microtubules and mitochondria within axons

Raine, C. S., Ghetti, B. & Shelanski, M. L., Nov 26 1971, In : Brain Research. 34, 2, p. 389-393 5 p.

Research output: Contribution to journalArticle

Spinal Nerves
Axonal Transport
Spinal Nerve Roots
Microtubules
Haplorhini
19 Citations (Scopus)

P301L tauopathyconfocal immunofluorescence study of perinuclear aggregation of the mutated protein

Adamec, E., Murrell, J. R., Takao, M., Hobbs, W., Nixon, R. A., Ghetti, B. & Vonsattel, J. P., Aug 15 2002, In : Journal of the Neurological Sciences. 200, 1-2, p. 85-93 9 p.

Research output: Contribution to journalArticle

tau Proteins
Tauopathies
Fluorescent Antibody Technique
Ubiquitin
Calpain
26 Citations (Scopus)

PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease

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

Research output: Contribution to journalArticle

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

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

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

Research output: Contribution to journalArticle

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

Partial volume correction in quantitative amyloid imaging

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

Research output: Contribution to journalArticle

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

Pathological changes in dopaminergic nerve cells of the substantia nigra and olfactory bulb in mice transgenic for truncated human α-synuclein(1- 120): Implications for lewy body disorders

Tofaris, G. K., Reitböck, P. G., Humby, T., Lambourne, S. L., O'Connell, M., Ghetti, B., Gossage, H., Emson, P. C., Wilkinson, L. S., Goedert, M. & Spillantini, M. G., 2006, In : Journal of Neuroscience. 26, 15, p. 3942-3950 9 p.

Research output: Contribution to journalArticle

Synucleins
Lewy Bodies
Olfactory Bulb
Substantia Nigra
Transgenic Mice
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
22 Citations (Scopus)

Pathologic prion protein is specifically recognized in situ by a novel PrP conformational antibody

Moroncini, G., Mangieri, M., Morbin, M., Mazzoleni, G., Ghetti, B., Gabrielli, A., Williamson, R. A., Giaccone, G. & Tagliavini, F., Sep 2006, In : Neurobiology of Disease. 23, 3, p. 717-724 8 p.

Research output: Contribution to journalArticle

Prion Diseases
Antibodies
Immunoglobulin G
Brain
Prions
3 Citations (Scopus)

Performance on MMSE sub-items and education level in presenilin-1 mutation carriers without dementia

Ringman, J. M., Rodriguez, Y., Diaz-Olavarrieta, C., Chavez, M., Thompson, M., Fairbanks, L., Paz, F., Varpetian, A., Chaparro, H., Macias-Islas, M. A., Murrell, J., Ghetti, B. & Kawas, C., Apr 2007, In : International Psychogeriatrics. 19, 2, p. 323-332 10 p.

Research output: Contribution to journalArticle

Presenilin-1
Dementia
Education
Mutation
Alzheimer Disease
44 Citations (Scopus)

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

Kepe, V., Ghetti, B., Farlow, M., Bresjanac, M., Miller, K., Huang, S. C., Wong, K. P., Murrell, J. R., Piccardo, P., Epperson, F., Repovš, G., Smid, L. M., Petrič, A., Siddarth, P., Liu, J., Satyamurthy, N., Small, G. W. & Barrio, J. R., Mar 2010, In : Brain Pathology. 20, 2, p. 419-430 12 p.

Research output: Contribution to journalArticle

Amyloid
Brain
Neocortex
Thalamus
Cerebellum
23 Citations (Scopus)

Phenotypic effects of the weaver gene are evident in the embryonic cerebellum but not in the ventral midbrain

Bayer, S. A., Wills, K. V., Wei, J., Feng, Y., Dlouhy, S., Hodes, M. E., Verina, T. & Ghetti, B., Oct 23 1996, In : Developmental Brain Research. 96, 1-2, p. 130-137 8 p.

Research output: Contribution to journalArticle

Mesencephalon
Cerebellum
Thymidine
Genes
Purkinje Cells
163 Citations (Scopus)

Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C→T (Arg493X) mutation: an international initiative

Rademakers, R., Baker, M., Gass, J., Adamson, J., Huey, E. D., Momeni, P., Spina, S., Coppola, G., Karydas, A. M., Stewart, H., Johnson, N., Hsiung, G. Y., Kelley, B., Kuntz, K., Steinbart, E., Wood, E. M., Yu, C. E., Josephs, K., Sorenson, E., Womack, K. B. & 30 others, Weintraub, S., Pickering-Brown, S. M., Schofield, P. R., Brooks, W. S., Van Deerlin, V. M., Snowden, J., Clark, C. M., Kertesz, A., Boylan, K., Ghetti, B., Neary, D., Schellenberg, G. D., Beach, T. G., Mesulam, M., Mann, D., Grafman, J., Mackenzie, I. R., Feldman, H., Bird, T., Petersen, R., Knopman, D., Boeve, B., Geschwind, D. H., Miller, B., Wszolek, Z., Lippa, C., Bigio, E. H., Dickson, D., Graff-Radford, N. & Hutton, M., Oct 2007, In : The Lancet Neurology. 6, 10, p. 857-868 12 p.

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
Haploinsufficiency
Mutation
Haplotypes
Age of Onset
35 Citations (Scopus)

Phenotypic variability in three families with valosin-containing protein mutation

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

Research output: Contribution to journalArticle

Frontotemporal Dementia
Mutation
Primary Progressive Aphasia
Muscle Weakness
Muscular Diseases
168 Citations (Scopus)

Phenotypic variability of Gerstmann-Straussler-Scheinker disease is associated with prion protein heterogeneity

Piccardo, P., Dlouhy, S., Lievens, P. M. J., Young, K., Bird, T. D., Nochlin, D., Dickson, D. W., Vinters, H. V., Zimmerman, T. R., Mackenzie, I. R. A., Kish, S. J., Ang, L. C., De Carli, C., Pocchiari, M., Brown, P., Gibbs, C. J., Gajdusek, D. C., Bugiani, O., Ironside, J., Tagliavini, F. & 1 others, Ghetti, B., Oct 1998, In : Journal of Neuropathology and Experimental Neurology. 57, 10, p. 979-988 10 p.

Research output: Contribution to journalArticle

Gerstmann-Straussler-Scheinker Disease
Protein Isoforms
Prion Proteins
Endopeptidase K
Creutzfeldt-Jakob Syndrome
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
87 Citations (Scopus)

Preclinical trials in autosomal dominant AD: Implementation of the DIAN-TU trial

Mills, S. M., Mallmann, J., Santacruz, A. M., Fuqua, A., Carril, M., Aisen, P. S., Althage, M. C., Belyew, S., Benzinger, T. L., Brooks, W. S., Buckles, V. D., Cairns, N. J., Clifford, D., Danek, A., Fagan, A. M., Farlow, M., Fox, N., Ghetti, B., Goate, A. M., Heinrichs, D. & 22 others, Hornbeck, R., Jack, C., Jucker, M., Klunk, W. E., Marcus, D. S., Martins, R. N., Masters, C. M., Mayeux, R., McDade, E., Morris, J. C., Oliver, A., Ringman, J. M., Rossor, M. N., Salloway, S., Schofield, P. R., Snider, J., Snyder, P., Sperling, R. A., Stewart, C., Thomas, R. G., Xiong, C. & Bateman, R. J., Oct 2013, In : Revue Neurologique. 169, 10, p. 737-743 7 p.

Research output: Contribution to journalArticle

Alzheimer Disease
Biomarkers
Observational Studies
Pharmaceutical Preparations
Biological Phenomena
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
34 Citations (Scopus)

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

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

Research output: Contribution to journalArticle

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

Presenilin-1 280Glu→ala mutation alters C-terminal APP processing yielding longer Aβ peptides: Implications for Alzheimer's disease

Van Vickle, G. D., Esh, C. L., Kokjohn, T. A., Patton, R. L., Kalback, W. M., Luehrs, D. C., Beach, T. G., Newel, A. J., Lopera, F., Ghetti, B., Vidal, R., Castaño, E. M. & Roher, A. E., Mar 2008, In : Molecular Medicine. 14, 3-4, p. 184-194 11 p.

Research output: Contribution to journalArticle

Presenilins
Presenilin-1
Amyloid beta-Protein Precursor
Alzheimer Disease
Amyloid
122 Citations (Scopus)

Presenilin-1 mutations in Alzheimer's disease

Russo, C., Schettini, G., Saido, T. C., Hulette, C., Lippa, C., Lannfelt, L., Ghetti, B., Gambetti, P., Tabaton, M. & Teller, J. K., Jun 1 2000, In : Nature. 405, 6786, p. 531-532 2 p.

Research output: Contribution to journalArticle

Aspartic Acid Endopeptidases
Presenilin-1
Endopeptidases
Amyloid Precursor Protein Secretases
Amyloid beta-Protein Precursor
212 Citations (Scopus)

Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Aβ42 production

Moehlmann, T., Winkler, E., Xia, X., Edbauer, D., Murrell, J., Capell, A., Kaether, C., Zheng, H., Ghetti, B., Haass, C. & Steiner, H., Jun 11 2002, In : Proceedings of the National Academy of Sciences of the United States of America. 99, 12, p. 8025-8030 6 p.

Research output: Contribution to journalArticle

Presenilin-1
Amyloid Precursor Protein Secretases
Leucine
Presenilins
Alzheimer Disease
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
7 Citations (Scopus)

Presymptomatic genetic testing with an APP mutation in Early-onset Alzheimer disease: A descriptive study of sibship dynamics

Quaid, K. A., Murrell, J. R., Hake, A., Farlow, M. & Ghetti, B., 2000, In : Journal of Genetic Counseling. 9, 4, p. 327-341 15 p.

Research output: Contribution to journalArticle

Amyloid beta-Protein Precursor
Genetic Testing
Alzheimer Disease
Mutation
Presenilin-2
35 Citations (Scopus)

Primary myopathy and accumulation of PRPSc-like molecules in peripheral tissues of transgenic mice expressing a prion protein insertional mutation

Chiesa, R., Pestronk, A., Schmidt, R. E., Tourtellotte, W. G., Ghetti, B., Piccardo, P. & Harris, D. A., 2001, In : Neurobiology of Disease. 8, 2, p. 279-288 10 p.

Research output: Contribution to journalArticle

Muscular Diseases
Transgenic Mice
Mutation
Mutant Proteins
Skeletal Muscle

Prion diseases

Ghetti, B. & Piccardo, P., Mar 1 2003, In : Clinics in Laboratory Medicine. 23, 1

Research output: Contribution to journalArticle

Prion Diseases
156 Citations (Scopus)

Prion protein amyloidosis

Ghetti, B., Piccardo, P., Frangione, B., Bugiani, O., Giaccone, G., Young, K., Prelli, F., Farlow, M., Dlouhy, S. & Tagliavini, F., Apr 1996, In : Brain Pathology. 6, 2, p. 127-145 19 p.

Research output: Contribution to journalArticle

Amyloidosis
Gerstmann-Straussler-Scheinker Disease
Prion Diseases
Amyloid
Spastic Paraparesis
9 Citations (Scopus)

Prion protein hereditary amyloidosis: Parenchymal and vascular

Ghetti, B., Piccardo, P., Frangione, B., Bugiani, O., Giaccone, G., Young, K., Prelli, F., Farlow, M., Dlouhy, S. & Tagliavini, F., Jun 1996, In : Seminars in Virology. 7, 3, p. 189-200 12 p.

Research output: Contribution to journalArticle

Familial Amyloidosis
Gerstmann-Straussler-Scheinker Disease
Blood Vessels
Amyloid
Spastic Paraparesis
78 Citations (Scopus)

Prion protein preamyloid and amyloid deposits in Gerstmann-Sträussler-Scheinker disease, Indiana kindred

Giaccone, G., Verga, L., Bugiani, O., Frangione, B., Serban, D., Prusiner, S. B., Farlow, M., Ghetti, B. & Tagliavini, F., Oct 1 1992, In : Proceedings of the National Academy of Sciences of the United States of America. 89, 19, p. 9349-9353 5 p.

Research output: Contribution to journalArticle

Amyloid Plaques
Amyloid
Immune Sera
Endopeptidase K
Protein Isoforms
63 Citations (Scopus)

Prion proteins with different conformations accumulate in Gerstmann-Sträussler-Scheinker disease caused by A117V and F198S mutations

Piccardo, P., Liepnieks, J. J., William, A., Dlouhy, S., Farlow, M., Young, K., Nochlin, D., Bird, T. D., Nixon, R. R., Ball, M. J., DeCarli, C., Bugiani, O., Tagliavini, F., Benson, M. & Ghetti, B., 2001, In : American Journal of Pathology. 158, 6, p. 2201-2207 7 p.

Research output: Contribution to journalArticle

Mutation
Endopeptidase K
Amyloid
Brain
Prion Proteins
28 Citations (Scopus)

Prion protein with an octapeptide insertion has impaired neuroprotective activity in transgenic mice

Li, A., Piccardo, P., Barmada, S. J., Ghetti, B. & Harris, D. A., Jun 6 2007, In : EMBO Journal. 26, 11, p. 2777-2785 9 p.

Research output: Contribution to journalArticle

Transgenic Mice
Prions
Mutation
Prion Proteins
Prion Diseases
38 Citations (Scopus)

Progressing encephalomyelopathy with muscular atrophy, induced by aluminum powder

Bugiani, O. & Ghetti, B., 1982, In : Neurobiology of Aging. 3, 3, p. 209-222 14 p.

Research output: Contribution to journalArticle

Muscular Atrophy
Aluminum
Powders
Anterior Horn Cells
Peripheral Nerves
29 Citations (Scopus)

Progress in hereditary tauopathies: A mutation in the Tau gene (G389R) causes a pick disease-like syndrome

Ghetti, B., Murrell, J. R., Zolo, P., Spillantini, M. G. & Goedert, M., 2000, In : Annals of the New York Academy of Sciences. 920, p. 52-62 11 p.

Research output: Contribution to journalArticle

Pick Disease of the Brain
Tauopathies
tau Proteins
Rigidity
Magnetic resonance imaging
5 Citations (Scopus)

Progressive dialytic encephalopathy and the problem of aluminum neurotoxicity

Bugiani, O., Brancaccio, D. & Ghetti, B., 1985, In : Clinical Nephrology. 24, SUPPL. 1

Research output: Contribution to journalArticle

Brain Diseases
Aluminum
Amyotrophic Lateral Sclerosis
Blood-Brain Barrier
Psychometrics
19 Citations (Scopus)

Progressive supranuclear palsy with hypertrophy of the olives - An immunocytochemical study of the cytoskeleton of argyrophilic neurons

Giaccone, G., Tagliavini, F., Street, J. S., Ghetti, B. & Bugiani, O., Jan 1988, In : Acta Neuropathologica. 77, 1, p. 14-20 7 p.

Research output: Contribution to journalArticle

Progressive Supranuclear Palsy
Olea
Cytoskeleton
Hypertrophy
Neurons
32 Citations (Scopus)

Protective variant for hippocampal atrophy identified by whole exome sequencing

Nho, K., Kim, S., Risacher, S. L., Shen, L., Corneveaux, J. J., Swaminathan, S., Lin, H., Ramanan, V. K., Liu, Y., Foroud, T., Inlow, M. H., Siniard, A. L., Reiman, R. A., Aisen, P. S., Petersen, R. C., Green, R. C., Jack, C. R., Weiner, M. W., Baldwin, C. T., Lunetta, K. L. & 14 others, Farrer, L. A., Furney, S. J., Lovestone, S., Simmons, A., Mecocci, P., Vellas, B., Tsolaki, M., Kloszewska, I., Soininen, H., McDonald, B., Farlow, M., Ghetti, B., Huentelman, M. J. & Saykin, A., Mar 1 2015, In : Annals of Neurology. 77, 3, p. 547-552 6 p.

Research output: Contribution to journalArticle

Exome
Neurogenesis
Neuroimaging
Computer Simulation
Atrophy
45 Citations (Scopus)

Proteinase-K-resistant prion protein isoforms in Gerstmann-Straussler- Scheinker disease (Indiana kindred)

Piccardo, P., Seiler, C., Dlouhy, S., Young, K., Farlow, M., Prelli, F., Frangione, B., Bugiani, O., Tagliavini, F. & Ghetti, B., Nov 1996, In : Journal of Neuropathology and Experimental Neurology. 55, 11, p. 1157-1163 7 p.

Research output: Contribution to journalArticle

Gerstmann-Straussler-Scheinker Disease
Endopeptidase K
Protein Isoforms
Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase
Amyloidogenic Proteins
69 Citations (Scopus)

PRP27-30 is a normal soluble prion protein fragment released by human platelets

Perini, F., Vidal, R., Ghetti, B., Tagliavini, F., Frangione, B. & Prelli, F., Jun 25 1996, In : Biochemical and Biophysical Research Communications. 223, 3, p. 572-577 6 p.

Research output: Contribution to journalArticle

Platelets
Protein Isoforms
Blood Platelets
Scrapie
Peptide Hydrolases
9 Citations (Scopus)

Purkinje cell age-distribution in fissures and in foliar crowns: A comparative study in the weaver cerebellum

Martí, J., Santa-Cruz, M. C., Bayer, S. A., Ghetti, B. & Hervás, J. P., Dec 2007, In : Brain Structure and Function. 212, 3-4, p. 347-357 11 p.

Research output: Contribution to journalArticle

Purkinje Cells
Age Distribution
Crowns
Cerebellum
Neurologic Mutant Mice
24 Citations (Scopus)

Purkinje cell loss and the noradrenergic system in the cerebellum of pcd mutant mice

Ghetti, B., Fuller, R. W., Sawyer, B. D., Hemrick-Luecke, S. K. & Schmidt, M. J., 1981, In : Brain Research Bulletin. 7, 6, p. 711-714 4 p.

Research output: Contribution to journalArticle

Purkinje Cells
Cerebellum
Norepinephrine
Locus Coeruleus
Neurons
20 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
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
10 Citations (Scopus)

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

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

Research output: Contribution to journalArticle

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

Rapidly progressive primary progressive aphasia and parkinsonism with novel GRN mutation

Galimberti, D., Cioffi, S. M. G., Fenoglio, C., Serpente, M., Oblak, A. L., Rodriguez-Porcel, F., Oldoni, E., Hagen, M. C., Arcaro, M., Scarpini, E., Ghetti, B. & Espay, A. J., 2016, (Accepted/In press) In : Movement Disorders.

Research output: Contribution to journalArticle

24 Citations (Scopus)

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

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

Research output: Contribution to journalArticle

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

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

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

Research output: Contribution to journalArticle

Amyloid beta-Protein Precursor
Alzheimer Disease
Genes
Sweden
Alanine

Recognition: Robert Terry

Ghetti, B., Jul 2005, In : Alzheimer's and Dementia. 1, 1, p. 78 1 p.

Research output: Contribution to journalArticle