Bernardino Ghetti

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

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7 Citations (Scopus)

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

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

Research output: Contribution to journalArticle

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

Gerstmann-Sträussler-Scheinker disease and the Indiana kindred

Ghetti, B., Dlouhy, S., Giaccone, G., Bugiani, O., Frangione, B., Farlow, M. & Tagliavini, F., 1995, In : Brain Pathology. 5, 1, p. 61-75 15 p.

Research output: Contribution to journalArticle

Codon
Mutation
Amyloidosis
Spastic Paraparesis
Prion Diseases
2 Citations (Scopus)

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

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

Research output: Contribution to journalArticle

Open Access
Creutzfeldt-Jakob Syndrome
Prion Diseases
Molecular Weight
Epitope Mapping
Endopeptidase K
29 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
44 Citations (Scopus)

Gerstmann-sträussler-scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients

Young, K., Jones, C. K., Piccardo, P., Lazzarini, A., Golbe, L. I., Zimmerman, T. R., Dickson, D. W., McLachlan, D. C., St. George-Hyslop, P., Lennox, A., Perlman, S., Vinters, H. V., Hodes, M. E., Dlouhy, S. & Ghetti, B., Jun 1995, In : Neurology. 45, 6, p. 1127-1134 8 p.

Research output: Contribution to journalArticle

Codon
Methionine
Mutation
Genes
Thymine
47 Citations (Scopus)

Gerstmann-Straussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129

Young, K., Clark, H. B., Piccardo, P., Dlouhy, S. & Ghetti, B., Feb 1997, In : Molecular Brain Research. 44, 1, p. 147-150 4 p.

Research output: Contribution to journalArticle

Gerstmann-Straussler-Scheinker Disease
Valine
Codon
Mutation
Methionine
47 Citations (Scopus)

GFP-tagged prion protein is correctly localized and functionally active in the brains of transgenic mice

Barmada, S., Piccardo, P., Yamaguchi, K., Ghetti, B. & Harris, D. A., Aug 2004, In : Neurobiology of Disease. 16, 3, p. 527-537 11 p.

Research output: Contribution to journalArticle

Transgenic Mice
Glycolipids
Brain
Prion Diseases
Prions
15 Citations (Scopus)

Glial cell line-derived neurotrophic factor protects midbrain dopamine neurons from the lethal action of the weaver gene: A quantitative immunocytochemical study

Broome, J. D., Wills, K. V., Lapchak, P. A., Ghetti, B., Camp, L. L. & Bayer, S. A., Aug 5 1999, In : Developmental Brain Research. 116, 1, p. 1-7 7 p.

Research output: Contribution to journalArticle

Glial Cell Line-Derived Neurotrophic Factor
Dopaminergic Neurons
Mesencephalon
Genes
Tyrosine
77 Citations (Scopus)

Globular glial tauopathies (GGT): Consensus recommendations

Ahmed, Z., Bigio, E. H., Budka, H., Dickson, D. W., Ferrer, I., Ghetti, B., Giaccone, G., Hatanpaa, K. J., Holton, J. L., Josephs, K. A., Powers, J., Spina, S., Takahashi, H., White, C. L., Revesz, T. & Kovacs, G. G., 2013, In : Acta Neuropathologica. 126, 4, p. 537-544 8 p.

Research output: Contribution to journalArticle

Tauopathies
Neuroglia
Consensus
Pyramidal Tracts
Motor Cortex
50 Citations (Scopus)

Guidelines for the diagnosis of dementia and Alzheimer's disease

Sorbi, S., Alberoni, M., Alfieri, P., Amici, S., Antana, D., Appollonio, I., Avanzi, S., Bartoli, A., Bergamasco, B., Bracco, L., Bruni, A., Bugiani, O., Caffarra, P., Caltagirone, C., Carolei, A., Rosa, A., Ciannella, L., Citterio, A., Daniele, A., D'Achille, G. & 59 others, Del Curatolo, G., Dell'Agnello, G., Durante, D., Farina, E., Ferrero, P., Forleo, P., Gainotti, G., Gabriele, P., Galante, E., Gallai, V., Gallassi, R., Gasparini, M., Ghetti, B., Giaccone, G., Girotti, F., Grimaldi, L., Grioli, S., Guarnieri, B. M., Grottoli, S., Iemolo, F., Latorraca, S., Le Pira, F., Lenzi, G. L., Lorusso, S., Mariani, C., Marcon, G., Mascia, V., Mearelli, S., Morante, M., Morbin, M., Musicco, M., Nardelli, E., Nichelli, P., Padovani, A., Paganini, M., Pantieri, R., Parisen, P., Parnetti, L., Passerella, B., Pettenati, C., Piacentini, S., Piccoli, F., Piccolini, C., Pizzolato, G., Provinciali, L., Pugliese, N., Redi, F., Ruggieri, R. M., Ruggiero, U., Saetta, M., Schoenuber, R., Silveri, M. C., Sorrentino, G., Sucapane, P., Stracciari, A., Tabaton, M., Tagliavini, F., Toso, V. & Valluzzi, F., Aug 2000, In : Neurological Sciences. 21, 4, p. 187-194 8 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Haplotype-phenotype correlations in kindreds with the N279K mutation in the tau gene [1] (multiple letters)

Woodruff, B. K., Baba, Y., Hutton, M. L., Wszolek, Z. K., Tsuboi, Y., Kobayashi, T., Ghetti, B., Arima, K., Yasuda, M., Rascol, O. & Girotti, F., Aug 2004, In : Archives of Neurology. 61, 8, p. 1327 1 p.

Research output: Contribution to journalArticle

tau Proteins
Asparagine
Haplotypes
Lysine
Phenotype
69 Citations (Scopus)

Hereditary diffuse leukoencephalopathy with spheroids: Clinical, pathologic and genetic studies of a new kindred

Baba, Y., Ghetti, B., Baker, M. C., Uitti, R. J., Hutton, M. L., Yamaguchi, K., Bird, T., Lin, W., DeLucia, M. W., Dickson, D. W. & Wszolek, Z. K., Apr 2006, In : Acta Neuropathologica. 111, 4, p. 300-311 12 p.

Research output: Contribution to journalArticle

Crystallins
Neurofilament Proteins
Amyloidogenic Proteins
Pyramidal Tracts
Protein Precursors
32 Citations (Scopus)

Hereditary ferritinopathy

Vidal, R., Delisle, M. B., Rascol, O. & Ghetti, B., Mar 15 2003, In : Journal of the Neurological Sciences. 207, 1-2, p. 110-111 2 p.

Research output: Contribution to journalArticle

Nervous System Heredodegenerative Disorders
Ferritins
Neuroferritinopathy
49 Citations (Scopus)

Hereditary prion protein amyloidoses

Ghetti, B., Tagliavini, F., Takao, M., Bugiani, O. & Piccardo, P., Mar 1 2003, In : Clinics in Laboratory Medicine. 23, 1, p. 65-85 21 p.

Research output: Contribution to journalArticle

Amyloidosis
Neurofibrillary Tangles
Prion Diseases
Amyloid
Cerebral Amyloid Angiopathy
31 Citations (Scopus)

Histopathological and molecular heterogeneity among individuals with dementia associated with Presenilin mutations

Maarouf, C. L., Daugs, I. D., Spina, S., Vidal, R., Kokjohn, T. A., Patton, R. L., Kalback, W. M., Luehrs, D. C., Walker, D. G., Castaño, E. M., Beach, T. G., Ghetti, B. & Roher, A. E., 2008, In : Molecular Neurodegeneration. 3, 1, 20.

Research output: Contribution to journalArticle

Presenilins
Dementia
Mutation
Amyloid Precursor Protein Secretases
Alzheimer Disease
7 Citations (Scopus)

Human brain protein phosphorylation in vitro: Cyclic AMP stimulation of electrophoretically-separated substrates

Routtenberg, A., Morgan, D. G., Conway, R. G., Schmidt, M. J. & Ghetti, B., Oct 19 1981, In : Brain Research. 222, 2, p. 323-333 11 p.

Research output: Contribution to journalArticle

Cyclic AMP
Phosphorylation
Brain
Frontal Lobe
Proteins
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
23 Citations (Scopus)

Hypospermatogenesis is the cause of infertility in the Male weaver mutant mouse

Vogelweid, C. M., Verina, T., Norton, J., Harruff, R. & Ghetti, B., 1993, In : Journal of Neurogenetics. 9, 2, p. 89-104 16 p.

Research output: Contribution to journalArticle

Neurologic Mutant Mice
Oligospermia
Male Infertility
Seminiferous Tubules
Spermatids
13 Citations (Scopus)

Hypothalamic-pituitary-gonadal axis in the mutant weaver mouse

Schwartz, N. B., Szabo, M., Verina, T., Wei, J., Dlouhy, S., Won, L., Heller, A., Hodes, M. E. & Ghetti, B., 1998, In : Neuroendocrinology. 68, 6, p. 374-385 12 p.

Research output: Contribution to journalArticle

Neurologic Mutant Mice
Homozygote
Seminiferous Epithelium
Follicle Stimulating Hormone
Luteinizing Hormone
276 Citations (Scopus)

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

Höglinger, G. U., Melhem, N. M., Dickson, D. W., Sleiman, P. M. A., Wang, L. S., Klei, L., Rademakers, R., De Silva, R., Litvan, I., Riley, D. E., Van Swieten, J. C., Heutink, P., Wszolek, Z. K., Uitti, R. J., Vandrovcova, J., Hurtig, H. I., Gross, R. G., Maetzler, W., Goldwurm, S., Tolosa, E. & 116 others, Borroni, B., Pastor, P., Cantwell, L. B., Han, M. R., Dillman, A., Van Der Brug, M. P., Gibbs, J. R., Cookson, M. R., Hernandez, D. G., Singleton, A. B., Farrer, M. J., Yu, C. E., Golbe, L. I., Revesz, T., Hardy, J., Lees, A. J., Devlin, B., Hakonarson, H., Müller, U., Schellenberg, G. D., Albin, R. L., Alonso, E., Antonini, A., Apfelbacher, M., Arnold, S. E., Avila, J., Beach, T. G., Beecher, S., Berg, D., Bird, T. D., Bogdanovic, N., Boon, A. J. W., Bordelon, Y., Brice, A., Budka, H., Canesi, M., Chiu, W. Z., Cilia, R., Colosimo, C., De Deyn, P. P., De Yebenes, J. G., Kaat, L. D., Duara, R., Durr, A., Engelborghs, S., Fabbrini, G., Finch, N. A., Flook, R., Frosch, M. P., Gaig, C., Galasko, D. R., Gasser, T., Gearing, M., Geller, E. T., Ghetti, B., Graff-Radford, N. R., Grossman, M., Hall, D. A., Hazrati, L. N., Höllerhage, M., Jankovic, J., Juncos, J. L., Karydas, A., Kretzschmar, H. A., Leber, I., Lee, V. M., Lieberman, A. P., Lyons, K. E., Mariani, C., Masliah, E., Massey, L. A., McLean, C. A., Meucci, N., Miller, B. L., Mollenhauer, B., Möller, J. C., Morris, H. R., Morris, C., O'Sullivan, S. S., Oertel, W. H., Ottaviani, D., Padovani, A., Pahwa, R., Pezzoli, G., Pickering-Brown, S., Poewe, W., Rabano, A., Rajput, A., Reich, S. G., Respondek, G., Roeber, S., Rohrer, J. D., Ross, O. A., Rossor, M. N., Sacilotto, G., Seeley, W. W., Seppi, K., Silveira-Moriyama, L., Spina, S., Srulijes, K., St. George-Hyslop, P., Stamelou, M., Standaert, D. G., Tesei, S., Tourtellotte, W. W., Trenkwalder, C., Troakes, C., Trojanowski, J. Q., Troncoso, J. C., Van Deerlin, V. M., Vonsattel, J. P. G., Wenning, G. K., White, C. L., Winter, P., Zarow, C. & Zecchinelli, A. L., Jul 2011, In : Nature Genetics. 43, 7, p. 699-705 7 p.

Research output: Contribution to journalArticle

Tauopathies
Progressive Supranuclear Palsy
Membrane Fusion Proteins
Unfolded Protein Response
Genome-Wide Association Study
6 Citations (Scopus)

Identification of functional variants from whole-exome sequencing, combined with neuroimaging genetics

Nho, K., Corneveaux, J. J., Kim, S., Lin, H., Risacher, S. L., Shen, L., Swaminathan, S., Ramanan, V. K., Liu, Y., Foroud, T., Inlow, M. H., Siniard, A. L., Reiman, R. A., Aisen, P. S., Petersen, R. C., Green, R. C., Jack, C. R., Weiner, M. W., Baldwin, C. T., Lunetta, K. & 14 others, Farrer, L. A., Furney, S. J., Lovestone, S., Simmons, A., Mecocci, P., Vellas, B., Tsolaki, M., Kloszewska, I., Soininen, H., McDonald, B., Farlow, M., Ghetti, B., Huentelman, M. J. & Saykin, A., Jul 2013, In : Molecular Psychiatry. 18, 7, p. 739 1 p.

Research output: Contribution to journalArticle

Exome
Genome-Wide Association Study
Neuroimaging
Atrophy
Hippocampus
86 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
30 Citations (Scopus)

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

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

Research output: Contribution to journalArticle

Silver Staining
Positron-Emission Tomography
Immunohistochemistry
Amyloid Plaques
Amyloid
137 Citations (Scopus)

Incidence and spectrum of sporadic Creutzfeldt-Jakob disease variants with mixed phenotype and co-occurrence of PrPSc types: An updated classification

Parchi, P., Strammiello, R., Notari, S., Giese, A., Langeveld, J. P. M., Ladogana, A., Zerr, I., Roncaroli, F., Cras, P., Ghetti, B., Pocchiari, M., Kretzschmar, H. & Capellari, S., Nov 2009, In : Acta Neuropathologica. 118, 5, p. 659-671 13 p.

Research output: Contribution to journalArticle

Kuru
Phenotype
Molecular Typing
Incidence
Valine
14 Citations (Scopus)

Increased Tau Phosphorylation and Tau Truncation, and Decreased Synaptophysin Levels in Mutant BRI2/Tau Transgenic Mice

Garringer, H., Murrell, J., Sammeta, N., Gnezda, A., Ghetti, B. & Vidal, R., Feb 13 2013, In : PLoS One. 8, 2, e56426.

Research output: Contribution to journalArticle

Synaptophysin
Phosphorylation
dementia
Transgenic Mice
phosphorylation
24 Citations (Scopus)

Increase in the relative expression of tau with four microtubule binding repeat regions in frontotemporal lobar degeneration and progressive supranuclear palsy brains

Ingelsson, M., Ramasamy, K., Russ, C., Freeman, S. H., Orne, J., Raju, S., Matsui, T., Growdon, J. H., Frosch, M. P., Ghetti, B., Brown, R. H., Irizarry, M. C. & Hyman, B. T., Nov 2007, In : Acta Neuropathologica. 114, 5, p. 471-479 9 p.

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
Progressive Supranuclear Palsy
Microtubules
Brain
Frontotemporal Dementia
9 Citations (Scopus)

Increase of a nerve growth factor-like protein in the cerebellum of pcd mutant mice

Schwartz, J. P., Ghetti, B., Truex, L. & Schmidt, M. J., 1982, In : Journal of Neuroscience Research. 8, 2-3, p. 205-211 7 p.

Research output: Contribution to journalArticle

Nerve Growth Factor
Cerebellum
Neuroglia
Proteins
Sensory Ganglia
24 Citations (Scopus)

Induction of neurofibrillary degeneration following treatment with maytansine in vivo

Ghetti, B., Mar 9 1979, In : Brain Research. 163, 1, p. 9-19 11 p.

Research output: Contribution to journalArticle

Maytansine
Tubulin
Microtubules
Spinal Injections
Intermediate Filaments
10 Citations (Scopus)

Induction of neurofibrillary tangles in cultured mouse neurons by maytanprine

Sato, Y., Kim, S. U. & Ghetti, B., 1985, In : Journal of the Neurological Sciences. 68, 2-3, p. 191-203 13 p.

Research output: Contribution to journalArticle

Neurofibrillary Tangles
Intermediate Filaments
Neurons
Microtubules
Spinal Ganglia
1 Citation (Scopus)
Neurologic Mutant Mice
Suspensions
Genetic Background
42 Citations (Scopus)

Influence of Genetic Variation on Plasma Protein Levels in Older Adults Using a Multi-Analyte Panel

Kim, S., Swaminathan, S., Inlow, M., Risacher, S. L., Nho, K., Shen, L., Foroud, T., Petersen, R. C., Aisen, P. S., Soares, H., Toledo, J. B., Shaw, L. M., Trojanowski, J. Q., Weiner, M. W., McDonald, B., Farlow, M., Ghetti, B. & Saykin, A., Jul 23 2013, In : PLoS One. 8, 7, e70269.

Research output: Contribution to journalArticle

blood proteins
Blood Proteins
Polymorphism
Single Nucleotide Polymorphism
genetic variation
2 Citations (Scopus)

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

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

Research output: Contribution to journalArticle

21st Century History
20th Century History
tau Proteins
Neurosciences
Glycosylation
22 Citations (Scopus)
Neurologic Mutant Mice
Insulin-Like Growth Factor I
Apoptosis
Neurons
IGF Type 1 Receptor
25 Citations (Scopus)

In situ hybridization analysis of Girk2 expression in the developing central nervous system in normal and weaver mice

Wei, J., Dlouhy, S., Bayer, S., Piva, R., Verina, T., Wang, Y., Feng, Y., Dupree, B., Hodes, M. E. & Ghetti, B., Jul 1997, In : Journal of Neuropathology and Experimental Neurology. 56, 7, p. 762-771 10 p.

Research output: Contribution to journalArticle

Neurologic Mutant Mice
Mesencephalon
Cerebellum
In Situ Hybridization
Central Nervous System
46 Citations (Scopus)

Insomnia associated with thalamic involvement in E200K Creutzfeldt-Jakob disease

Taratuto, A. L., Piccardo, P., Reich, E. G., Chen, S. G., Sevlever, G., Schultz, M., Luzzi, A. A., Rugiero, M., Abecasis, G., Endelman, M., Garcia, A. M., Capellari, S., Xie, Z., Lugaresi, E., Gambetti, P., Dlouhy, S. & Ghetti, B., Feb 12 2002, In : Neurology. 58, 3, p. 362-367 6 p.

Research output: Contribution to journalArticle

Creutzfeldt-Jakob Syndrome
Sleep Initiation and Maintenance Disorders
Haplotypes
Endopeptidase K
Gliosis
123 Citations (Scopus)

Intracellular Ferritin Accumulation in Neural and Extraneural Tissue Characterizes A Neurodegenerative Disease Associated with A Mutation in the Ferritin Light Polypeptide Gene

Vidal, R., Ghetti, B., Takao, M., Brefel-Courbon, C., Uro-Coste, E., Glazier, B. S., Siani, V., Benson, M., Calvas, P., Miravalle, L., Rascol, O. & Delisle, M. B., Apr 2004, In : Journal of Neuropathology and Experimental Neurology. 63, 4, p. 363-380 18 p.

Research output: Contribution to journalArticle

Ferritins
Neurodegenerative Diseases
Light
Peptides
Mutation
21 Citations (Scopus)
Cerebellar Nuclei
Purkinje Cells
Suspensions
Cerebellar Cortex
Transplants
18 Citations (Scopus)

Intrastriatal implants of mesencephalic cell suspensions in weaver mutant mice: ultrastructural relationships of dopaminergic dendrites and axons issued from the graft

Triarhou, L. C., Brundin, P., Doucet, G., Norton, J., Björklund, A. & Ghetti, B., Jan 1990, In : Experimental Brain Research. 79, 1, p. 3-17 15 p.

Research output: Contribution to journalArticle

Neurologic Mutant Mice
Dendrites
Axons
Suspensions
Transplants
1 Citation (Scopus)

Introduction: From the desk of the guest editor

Ghetti, B., Nov 2011, In : Journal of Molecular Neuroscience. 45, 3, p. 321-322 2 p.

Research output: Contribution to journalArticle

148 Citations (Scopus)

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

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

Research output: Contribution to journalArticle

Frontotemporal Dementia
Microtubule-Associated Proteins
Lizards
Neuroimaging
Positron-Emission Tomography
7 Citations (Scopus)
Dopaminergic Neurons
Heterozygote
Cell Communication
Corpus Striatum
Mesencephalon
12 Citations (Scopus)

In vitro release of endogenous dopamine from the striatum of the weaver mutant mouse

Simon, J. R., Yu, H., Richter, J. A., Vasko, M. & Ghetti, B., Nov 1991, In : Journal of Neurochemistry. 57, 5, p. 1478-1482 5 p.

Research output: Contribution to journalArticle

Neurologic Mutant Mice
Dopamine
Corpus Striatum
Amphetamine
Potassium
24 Citations (Scopus)

In vivo and postmortem clinicoanatomical correlations in frontotemporal dementia and parkinsonism linked to chromosome 17

Ghetti, B., Spina, S., Murrell, J. R., Huey, E. D., Pietrini, P., Sweeney, B., Wassermann, E. M., Keohane, C., Farlow, M. & Grafman, J., Mar 2008, In : Neurodegenerative Diseases. 5, 3-4, p. 215-217 3 p.

Research output: Contribution to journalArticle

Frontotemporal Dementia
Chromosomes, Human, Pair 17
Parkinsonian Disorders
Microtubule-Associated Proteins
Mutation
10 Citations (Scopus)
Neurologic Mutant Mice
Substantia Nigra
Dopamine
Desipramine
Fluoxetine
635 Citations (Scopus)

Lack of apolipoprotein E dramatically reduces amyloid beta-peptide deposition.

Bales, K. R., Verina, T., Dodel, R. C., Du, Y., Altstiel, L., Bender, M., Hyslop, P., Johnstone, E. M., Little, S. P., Cummins, D. J., Piccardo, P., Ghetti, B. & Paul, S. M., Nov 1997, In : Nature Genetics. 17, 3, p. 263-264 2 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

La teleangectasia universale, congenita, eritematosa di Bloom associata ad are-flessia osteo-tendinea ed oligofrenia: studio del primo caso italiano.

Translated title of the contribution: Congenital generalized erythematous telangiectasis of Bloom associated with osteo-tendineous areflexia and oligophrenia: the 1st case in ItalyBertolino, A., Fiore, C., Morcaldi, L., Pinto, L., Ghetti, B. & Guazzi, G. C., Nov 15 1969, In : Rassegna Internazionale di Clinica e Terapia. 49, 21, p. 1331-1347 17 p.

Research output: Contribution to journalArticle

Facial Dermatoses
Multiple Abnormalities
Photosensitivity Disorders
Dwarfism
Stretch Reflex
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
6 Citations (Scopus)

Layer-specific innervation of the dopamine-deficient frontal cortex in weaver mutant mice by grafted mesencephalic dopaminergic neurones

Triarhou, L. C., Low, W. C. & Ghetti, B., Oct 1988, In : Cell and Tissue Research. 254, 1, p. 11-15 5 p.

Research output: Contribution to journalArticle

Neurologic Mutant Mice
Dopaminergic Neurons
Frontal Lobe
Neurons
Dopamine
385 Citations (Scopus)

Lewy bodies contain altered α-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes

Lippa, C. F., Fujiwara, H., Mann, D. M. A., Giasson, B., Baba, M., Schmidt, M. L., Nee, L. E., O'Connell, B., Pollen, D. A., St. George-Hyslop, P., Ghetti, B., Nochlin, D., Bird, T. D., Cairns, N. J., Lee, V. M. Y., Iwatsubo, T. & Trojanowski, J. Q., Nov 1998, In : American Journal of Pathology. 153, 5, p. 1365-1370 6 p.

Research output: Contribution to journalArticle

Synucleins
Presenilins
Lewy Bodies
Amyloid beta-Protein Precursor
Alzheimer Disease
3 Citations (Scopus)

Linkage mapping of microdissected clones from distal mouse chromosome 16

Wei, J., Dlouhy, S., Wang, Y., Zhu, J., Fitzpatrick, L., Ghetti, B. & Hodes, M. E., May 1996, In : Somatic Cell and Molecular Genetics. 22, 3, p. 227-232 6 p.

Research output: Contribution to journalArticle

Chromosomes, Human, Pair 16
Chromosome Mapping
Clone Cells
Microdissection
Organism Cloning