Bernardino Ghetti

  • 30716 Citations
  • 85 h-Index
1967 …2021
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Publications 1967 2019

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2003
19 Citations (Scopus)

Variable phenotype in a P102L Gerstmann-Sträussler-Scheinker Italian family

De Michele, G., Pocchiari, M., Petraroli, R., Manfredi, M., Caneve, G., Coppola, G., Casali, C., Saccà, F., Piccardo, P., Salvatore, E., Berardelli, A., Orio, M., Barbieri, F., Ghetti, B. & Filla, A., Aug 1 2003, In : Canadian Journal of Neurological Sciences. 30, 3, p. 233-236 4 p.

Research output: Contribution to journalArticle

Ataxia
Phenotype
Spastic Paraparesis
Prion Diseases
Pedigree
2002
409 Citations (Scopus)

Abundant tau filaments and nonapoptotic neurodegeneration in transgenic mice expressing human P301s tau protein

Allen, B., Ingram, E., Takao, M., Smith, M. J., Jakes, R., Virdee, K., Yoshida, H., Holzer, M., Craxton, M., Emson, P. C., Atzori, C., Migheli, A., Anthony Crowther, R., Ghetti, B., Spillantini, M. G. & Goedert, M., Nov 1 2002, In : Journal of Neuroscience. 22, 21, p. 9340-9351 12 p.

Research output: Contribution to journalArticle

Transgenic Mice
tau Proteins
Frontotemporal Dementia
Spinal Cord
Chromosomes, Human, Pair 17
23 Citations (Scopus)

A combined immunohistochemical and autoradiographic method to detect midbrain dopaminergic neurons and determine their time of origin

Martí, J., Wills, K. V., Ghetti, B. & Bayer, S. A., Jul 22 2002, In : Brain Research Protocols. 9, 3, p. 197-205 9 p.

Research output: Contribution to journalArticle

Dopaminergic Neurons
Mesencephalon
Thymidine
Tyrosine 3-Monooxygenase
Autoradiography
54 Citations (Scopus)

A novel mutation (G217D) in the Presenilin 1 gene (PSEN1) in a Japanese family: Presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum

Takao, M., Ghetti, B., Hayakawa, I., Ikeda, E., Fukuuchi, Y., Miravalle, L., Piccardo, P., Murell, J. R., Glazier, B. S. & Koto, A., Dec 1 2002, In : Acta Neuropathologica. 104, 2, p. 155-170 16 p.

Research output: Contribution to journalArticle

Presenilin-1
Wool
Parkinsonian Disorders
Dendrites
Alzheimer Disease
117 Citations (Scopus)

Association between conformational mutations in neuroserpin and onset and severity of dementia

Davis, R. L., Shrimpton, A. E., Carrell, R. W., Lomas, D. A., Gerhard, L., Baumann, B., Lawrence, D. A., Yepes, M., Kim, T. S., Ghetti, B., Piccardo, P., Takao, M., Lacbawan, F., Muenke, M., Sifers, R. N., Bradshaw, C. B., Kent, P. F., Collins, G. H., Larocca, D. & Holohan, P. D., Jun 29 2002, In : Lancet. 359, 9325, p. 2242-2247 6 p.

Research output: Contribution to journalArticle

Dementia
Mutation
Inclusion Bodies
Progressive Myoclonic Epilepsy
Neurons
34 Citations (Scopus)

Clinical and genetic studies of families with the tau N279K mutation (FTDP-17)

Tsuboi, Y., Baker, M., Hutton, M. L., Uitti, R. J., Rascol, O., Delisle, M. B., Soulages, X., Murrell, J. R., Ghetti, B., Yasuda, M., Komure, O., Kuno, S., Arima, K., Sunohara, N., Kobayashi, T., Mizuno, Y. & Wszolek, Z. K., Dec 10 2002, In : Neurology. 59, 11, p. 1791-1793 3 p.

Research output: Contribution to journalArticle

Frontotemporal Dementia
Mutation
Japan
Founder Effect
Parkinsonian Disorders
26 Citations (Scopus)

Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: A comparison of the pallidopontonigral degeneration kindred and a French family

Tsuboi, Y., Uitti, R. J., Delisle, M. B., Ferreira, J. J., Brefel-Courbon, C., Rascol, O., Ghetti, B., Murrell, J. R., Hutton, M., Baker, M. & Wszolek, Z. K., Jan 1 2002, In : Archives of Neurology. 59, 6, p. 943-950 8 p.

Research output: Contribution to journalArticle

Open Access
Haplotypes
Mutation
Genes
Chromosomes, Human, Pair 17
Parkinsonian Disorders
9 Citations (Scopus)

Dementia with Lewy bodies in a Nigerian: A case report

Ogunniyi, A., Akang, E. E. U., Gureje, O., Takao, M., Piccardo, P., Baiyewu, O., Hall, K. S., Ghetti, B. & Hendrie, H. C., Jun 1 2002, In : International Psychogeriatrics. 14, 2, p. 211-218 8 p.

Research output: Contribution to journalArticle

Lewy Body Disease
Dementia
Africa South of the Sahara
Autopsy
Alzheimer Disease
22 Citations (Scopus)
Neurologic Mutant Mice
Insulin-Like Growth Factor I
Apoptosis
Neurons
IGF Type 1 Receptor
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. R. & 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
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
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
9 Citations (Scopus)

Regional differences in the Purkinje cells settled pattern: A comparative autoradiographic study in control and homozygous weaver mice

Marti, J., Wills, K. V., Ghetti, B. & Bayer, S. A., Jan 1 2002, In : Experimental Neurology. 175, 1, p. 168-181 14 p.

Research output: Contribution to journalArticle

Neurologic Mutant Mice
Purkinje Cells
Homozygote
Thymidine
Cerebellar Cortex
2001
107 Citations (Scopus)

A 7-kDa Prion Protein (PrP) Fragment, an Integral Component of the PrP Region Required for Infectivity, Is the Major Amyloid Protein in Gerstmann-Sträussler-Scheinker Disease A117V

Tagliavini, F., Lievens, P. M. J., Tranchant, C., Warter, J. M., Mohr, M., Giaccone, G., Perini, F., Rossi, G., Salmona, M., Piccardo, P., Ghetti, B., Beavis, R. C., Bugiani, O., Frangione, B. & Prelli, F., Feb 23 2001, In : Journal of Biological Chemistry. 276, 8, p. 6009-6015 7 p.

Research output: Contribution to journalArticle

Amyloidogenic Proteins
Peptides
Amyloid
Mutant Proteins
Tissue
137 Citations (Scopus)

Activation of the JNK/p38 pathway occurs in diseases characterized by tau protein pathology and is related to tau phosphorylation but not to apoptosis

Atzori, C., Ghetti, B., Piva, R., Srinivasan, A. N., Zolo, P., Delisle, M. B., Mirra, S. S. & Migheli, A., Jan 1 2001, In : Journal of Neuropathology and Experimental Neurology. 60, 12, p. 1190-1197 8 p.

Research output: Contribution to journalArticle

Open Access
tau Proteins
MAP Kinase Signaling System
Phosphotransferases
Phosphorylation
Apoptosis
56 Citations (Scopus)

A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease

Panegyres, P. K., Toufexis, K., Kakulas, B. A., Cernevakova, L., Brown, P., Ghetti, B., Piccardo, P. & Dlouhy, S. R., Jan 1 2001, In : Archives of Neurology. 58, 11, p. 1899-1902 4 p.

Research output: Contribution to journalArticle

Open Access
Mutation
Codon
Dementia
Endopeptidase K
Prion Diseases
5 Citations (Scopus)

A transgenic model of a familial prion disease

Harris, D. A., Chiesa, R., Drisaldi, B., Quaglio, E., Migheli, A., Piccardo, P. & Ghetti, B., Jan 1 2001, In : Archives of Virology, Supplement. 16, p. 103-112 10 p.

Research output: Contribution to journalArticle

Prion Diseases
Genetically Modified Animals
Gliosis
Mutant Proteins
Transgenes
28 Citations (Scopus)

Biochemical characterization of a neuroserpin variant associated with hereditary dementia

Yazaki, M., Liepnieks, J. J., Murrell, J. R., Takao, M., Guenther, B., Piccardo, P., Farlow, M. R., Ghetti, B. & Benson, M. D., Jan 1 2001, In : American Journal of Pathology. 158, 1, p. 227-233 7 p.

Research output: Contribution to journalArticle

Dementia
Inclusion Bodies
Neurodegenerative Diseases
Exons
Proteins
135 Citations (Scopus)

Codeposition of cystatin C with amyloid-β protein in the brain of alzheimer disease patients

Levy, E., Sastre, M., Kumar, A., Gallo, G., Piccardo, P., Ghetti, B. & Tagliavini, F., Jan 1 2001, In : Journal of Neuropathology and Experimental Neurology. 60, 1, p. 94-104 11 p.

Research output: Contribution to journalArticle

Open Access
Amyloidogenic Proteins
Cystatin C
Brain Diseases
Alzheimer Disease
Amyloid
47 Citations (Scopus)

Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures

Takao, M., Ghetti, B., Murrell, J. R., Unverzagt, F. W., Giaccone, G., Tagliavini, F., Bugiani, O., Piccardo, P., Hulette, C. M., Crain, B. J., Farlow, M. R. & Heyman, A., Jan 1 2001, In : Journal of Neuropathology and Experimental Neurology. 60, 12, p. 1137-1152 16 p.

Research output: Contribution to journalArticle

Open Access
Presenilin-1
Myoclonus
Alzheimer Disease
Seizures
Neurons
62 Citations (Scopus)

Endocytic disturbances distinguish among subtypes of Alzheimer's disease and related disorders

Cataldo, A., William Rebeck, G., Ghetti, B., Hulette, C., Lippa, C., Van Broeckhoven, C., Van Duijn, C., Cras, P., Bogdanovic, N., Bird, T., Peterhoff, C. & Nixon, R., Nov 12 2001, In : Annals of Neurology. 50, 5, p. 661-665 5 p.

Research output: Contribution to journalArticle

Amyloid beta-Protein Precursor
Alzheimer Disease
Amyloid
Mutation
Presenilins
14 Citations (Scopus)

Evidence that the loss of Purkinje cells and deep cerebellar nuclei neurons in homozygous weaver is not related to neurogenetic patterns

Martí, J., Wills, K. V., Ghetti, B. & Bayer, S. A., Oct 9 2001, In : International Journal of Developmental Neuroscience. 19, 6, p. 599-610 12 p.

Research output: Contribution to journalArticle

Cerebellar Nuclei
Purkinje Cells
Neurons
Homozygote
Thymidine
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, R. E., Jan 1 2001, In : Neurobiology of Disease. 8, 2, p. 279-288 10 p., 90400.

Research output: Contribution to journalArticle

Muscular Diseases
Transgenic Mice
Mutation
Mutant Proteins
Skeletal Muscle
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. R., Farlow, M. R., Young, K., Nochlin, D., Bird, T. D., Nixon, R. R., Ball, M. J., DeCarli, C., Bugiani, O., Tagliavini, F., Benson, M. D. & Ghetti, B., Jan 1 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
2000
126 Citations (Scopus)

Accumulation of protease-resistant prion protein (PrP) and apoptosis of cerebellar granule cells in transgenic mice expressing a PrP insertional mutation

Chiesa, R., Drisaldi, B., Quaglio, E., Migheli, A., Piccardo, P., Ghetti, B. & Harris, D. A., May 9 2000, In : Proceedings of the National Academy of Sciences of the United States of America. 97, 10, p. 5574-5579 6 p.

Research output: Contribution to journalArticle

Transgenic Mice
Peptide Hydrolases
Apoptosis
Mutation
Mutant Proteins
65 Citations (Scopus)

Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene

Murrell, J. R., Hake, A. M., Quaid, K. A., Farlow, M. R. & Ghetti, B., Jun 2000, In : Archives of Neurology. 57, 6, p. 885-887 3 p.

Research output: Contribution to journalArticle

Open Access
Amyloid beta-Protein Precursor
Alzheimer Disease
Mutation
Dementia
Genes
9 Citations (Scopus)

Evidence of elevated intracellular calcium levels in weaver homozygote mice

Harkins, A. B., Dlouhy, S., Ghetti, B., Cahill, A. L., Won, L., Heller, B., Heller, A. & Fox, A. P., Apr 15 2000, In : Journal of Physiology. 524, 2, p. 447-455 9 p.

Research output: Contribution to journalArticle

Neurologic Mutant Mice
Homozygote
Calcium
Neurons
Cell Death
48 Citations (Scopus)

Familial Alzheimer's disease: Site of mutation influences clinical phenotype

Lippa, C. F., Swearer, J. M., Kane, K. J., Nochlin, D., Bird, T. D., Ghetti, B., Nee, L. E., St. George-Hyslop, P., Pollen, D. A. & Drachman, D. A., Sep 18 2000, In : Annals of Neurology. 48, 3, p. 376-379 4 p.

Research output: Contribution to journalArticle

Alzheimer Disease
Phenotype
Age of Onset
Mutation
Presenilin-2
238 Citations (Scopus)

Genetic influence on the structural variations of the abnormal prion protein

Parchi, P., Zou, W., Wang, W., Brown, P., Capellari, S., Ghetti, B., Kopp, N., Schulz-Schaeffer, W. J., Kretzschmar, H. A., Head, M. W., Ironside, J. W., Gambetti, P. & Chen, S. G., Aug 29 2000, In : Proceedings of the National Academy of Sciences of the United States of America. 97, 18, p. 10168-10172 5 p.

Research output: Contribution to journalArticle

Open Access
Endopeptidase K
Prion Diseases
Protein Sequence Analysis
Codon
Prion Proteins
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 1 2000, In : Neurological Sciences. 21, 4, p. 187-194 8 p.

Research output: Contribution to journalArticle

8 Citations (Scopus)

Maladie neuro-dégénérative associée à une mutation du codon 279 (N279K) de l'exon 10 du gène de la protéine Tau

Translated title of the contribution: Neurodegenerative disease with a mutation at codon 279 (N279 K) in exon 10 of the protein Tau geneDelisle, M. B., Uro-Coste, E., Murrell, J. R., Rascol, O. & Ghetti, B., Dec 1 2000, In : Bulletin de l'Academie Nationale de Medecine. 184, 4, p. 799-809 11 p.

Research output: Contribution to journalArticle

tau Proteins
Codon
Neurodegenerative Diseases
Exons
Mutation
39 Citations (Scopus)

Neuropathology of Gerstmann-Straussler-Scheinker disease

Bugiani, O., Giaccone, G., Piccardo, P., Morbin, M., Tagliavini, F. & Ghetti, B., Jul 1 2000, In : Microscopy Research and Technique. 50, 1, p. 10-15 6 p.

Research output: Contribution to journalArticle

Gerstmann-Straussler-Scheinker Disease
neuropathology
Amyloid Plaques
amyloid
Deposits
60 Citations (Scopus)

Neuroserpin mutation S52R causes Neuroserpin accumulation in neurons and is associated with progressive myoclonus epilepsy

Takao, M., Benson, M. D., Murrell, J. R., Yazaki, M., Piccardo, P., Unverzagt, F. W., Davis, R. L., Holohan, P. D., Lawrence, D. A., Richardson, R., Farlow, M. R. & Ghetti, B., Jan 1 2000, In : Journal of Neuropathology and Experimental Neurology. 59, 12, p. 1070-1086 17 p.

Research output: Contribution to journalArticle

Open Access
Progressive Myoclonic Epilepsy
Neurons
Mutation
Myoclonic Epilepsy
Aspiration Pneumonia
123 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
30 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., Jan 1 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
55 Citations (Scopus)

Senile dementia associated with amyloid β protein angiopathy and tau perivascular pathology but not neuritic plaques in patients homozygous for the APOE-ε4 allele

Vidal, R., Calero, M., Piccardo, P., Farlow, M. R., Unverzagt, F. W., Méndez, E., Jiménez-Huete, A., Beavis, R., Gallo, G., Gomez-Tortosa, E., Ghiso, J., Hyman, B. T., Frangione, B. & Ghetti, B., Jul 1 2000, In : Acta Neuropathologica. 100, 1, p. 1-12 12 p.

Research output: Contribution to journalArticle

Apolipoprotein E4
Amyloidogenic Proteins
Amyloid Plaques
Alzheimer Disease
Alleles
42 Citations (Scopus)
tau Proteins
Frontotemporal Dementia
Chromosomes, Human, Pair 17
Parkinsonian Disorders
Chromosomes
9 Citations (Scopus)

The weaver gene continues to target late-generated dopaminergic neurons in midbrain areas at P90

Martí, J., Wills, K. V., Ghetti, B. & Bayer, S. A., Aug 30 2000, In : Developmental Brain Research. 122, 2, p. 173-181 9 p.

Research output: Contribution to journalArticle

Dopaminergic Neurons
Mesencephalon
Thymidine
Neurologic Mutant Mice
Genes
8 Citations (Scopus)

The weaver gene has no effect on the generation patterns of mesencephalic dopaminergic neurons

Martí, J., Wills, K. V., Ghetti, B. & Bayer, S. A., Aug 30 2000, In : Developmental Brain Research. 122, 2, p. 165-172 8 p.

Research output: Contribution to journalArticle

Cohort Effect
Dopaminergic Neurons
Mesencephalon
Thymidine
Neurologic Mutant Mice
1999
48 Citations (Scopus)

A cell cycle alteration precedes apoptosis of granule cell precursors in the weaver mouse cerebellum

Migheli, A., Piva, R., Casolino, S., Atzori, C., Dlouhy, S. R. & Ghetti, B., Aug 1999, In : American Journal of Pathology. 155, 2, p. 365-373 9 p.

Research output: Contribution to journalArticle

Neurologic Mutant Mice
Cerebellum
Cell Cycle
Apoptosis
Cell Cycle Proteins
10 Citations (Scopus)

Alteration of IGF system gene expression during the postnatal development of pcd mice

Zhang, W., Ghetti, B., Yang, X. L. & Lee, W. H., Jan 1 1999, In : Journal of Endocrinology. 163, 2, p. 191-198 8 p.

Research output: Contribution to journalArticle

Open Access
Insulin-Like Growth Factor I
Gene Expression
Insulin-Like Growth Factor Binding Proteins
Messenger RNA
Insulin-Like Growth Factor II
140 Citations (Scopus)

A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy

Delisle, M. B., Murrell, J. R., Richardson, R., Trofatter, J. A., Rascol, O., Soulages, X., Mohr, M., Calvas, P. & Ghetti, B., Jul 1 1999, In : Acta Neuropathologica. 98, 1, p. 62-77 16 p.

Research output: Contribution to journalArticle

Tauopathies
Codon
Paralysis
Dementia
Exons
379 Citations (Scopus)

Apolipoprotein E is essential for amyloid deposition in the APP(V717F) transgenic mouse model of Alzheimer's disease

Bales, K. R., Verina, T., Cummins, D. J., Du, Y., Dodel, R. C., Saura, J., Fishman, C. E., Delong, C. A., Piccardo, P., Petegnief, V., Ghetti, B. & Paul, S. M., Dec 21 1999, In : Proceedings of the National Academy of Sciences of the United States of America. 96, 26, p. 15233-15238 6 p.

Research output: Contribution to journalArticle

Apolipoproteins E
Amyloid
Transgenic Mice
Alzheimer Disease
Amyloid Plaques
6 Citations (Scopus)

Chapter 5 Human Prion Diseases

Ghetti, B. & Gambetti, P., Dec 1 1999, In : Advances in Cell Aging and Gerontology. 3, C, p. 135-187 53 p.

Research output: Contribution to journalArticle

Prion Diseases
1008 Citations (Scopus)

Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects

Parchi, P., Giese, A., Capellari, S., Brown, P., Schulz-Schaeffer, W., Windl, O., Zerr, I., Budka, H., Kopp, N., Piccardo, P., Poser, S., Rojiani, A., Streichemberger, N., Julien, J., Vital, C., Ghetti, B., Gambetti, P. & Kretzschmar, H., Aug 23 1999, In : Annals of Neurology. 46, 2, p. 224-233 10 p.

Research output: Contribution to journalArticle

Codon
Valine
Phenotype
Methionine
Dementia
297 Citations (Scopus)

Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau

Bugiani, O., Murrell, J. R., Giaccone, G., Hasegawa, M., Ghigo, G., Tabaton, M., Morbin, M., Primavera, A., Carella, F., Solaro, C., Grisoli, M., Savoiardo, M., Spillantini, M. G., Tagliavini, F., Goedert, M. & Ghetti, B., Jun 1999, In : Journal of Neuropathology and Experimental Neurology. 58, 6, p. 667-677 11 p.

Research output: Contribution to journalArticle

Open Access
Frontotemporal Dementia
tau Proteins
Mutation
Genes
Chromosomes, Human, Pair 17
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
186 Citations (Scopus)

Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17

Varani, L., Hasegawa, M., Spillantini, M. G., Smith, M. J., Murrell, J. R., Ghetti, B., Klug, A., Goedert, M. & Varani, G., Jul 6 1999, In : Proceedings of the National Academy of Sciences of the United States of America. 96, 14, p. 8229-8234 6 p.

Research output: Contribution to journalArticle

Frontotemporal Dementia
Chromosomes, Human, Pair 17
Parkinsonian Disorders
Exons
RNA
187 Citations (Scopus)

Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits

Murrell, J. R., Spillantini, M. G., Zolo, P., Guazzelli, M., Smith, M. J., Hasegawa, M., Redi, F., Crowther, R. A., Pietrini, P., Ghetti, B. & Goedert, M., Dec 1999, In : Journal of Neuropathology and Experimental Neurology. 58, 12, p. 1207-1226 20 p.

Research output: Contribution to journalArticle

Open Access
Tauopathies
Inclusion Bodies
Mutation
Genes
Frontotemporal Dementia
149 Citations (Scopus)

Tau pathology in a family with dementia and a P301L mutation in tau

Mirra, S. S., Murrell, J. R., Gearing, M., Spillantini, M. G., Goedert, M., Crowther, R. A., Levey, A. I., Jones, R., Green, J., Shoffner, J. M., Wainer, B. H., Schmidt, M. L., Trojanowski, J. Q. & Ghetti, B., Apr 1999, In : Journal of Neuropathology and Experimental Neurology. 58, 4, p. 335-345 11 p.

Research output: Contribution to journalArticle

Open Access
Tauopathies
Dementia
Siblings
Frontotemporal Dementia
Chromosomes, Human, Pair 17