Bernardino Ghetti

  • 29265 Citations
  • 81 h-Index
1967 …2021
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Publications 1967 2019

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2005
29 Citations (Scopus)

The Effect of tau genotype on clinical features in FTDP-17

Baba, Y., Tsuboi, Y., Baker, M. C., Uitti, R. J., Hutton, M. L., Dickson, D. W., Farrer, M., Putzke, J. D., Woodruff, B. K., Ghetti, B., Murrell, J. R., Boeve, B. F., Petersen, R. C., Verpillat, P., Brice, A., Delisle, M. B., Rascol, O., Arima, K., Dysken, M. W., Yasuda, M. & 11 others, Kobayashi, T., Sunohara, N., Komure, O., Kuno, S., Sperfeld, A. D., Stoppe, G., Kohlhase, J., Pickering-Brown, S., Neary, D., Bugiani, O. & Wszolek, Z. K., Jun 2005, In : Parkinsonism and Related Disorders. 11, 4, p. 205-208 4 p.

Research output: Contribution to journalArticle

Frontotemporal Dementia
Genotype
Phenotype
Mutation
Chromosomes, Human, Pair 17
2004
19 Citations (Scopus)

Early-onset dementia with Lewy bodies

Takao, M., Ghetti, B., Yoshida, H., Piccardo, P., Narain, Y., Murrell, J. R., Vidal, R., Glazier, B. S., Jakes, R., Tsutsui, M., Spillantini, M. G., Crowther, R. A., Goedert, M. & Koto, A., Apr 2004, In : Brain Pathology. 14, 2, p. 137-147 11 p.

Research output: Contribution to journalArticle

Synucleins
Lewy Body Disease
Lewy Bodies
Neurites
Cerebral Cortex
109 Citations (Scopus)

Effects of different experimental conditions on the PrPSc core generated by protease digestion: Implications for strain typing and molecular classification of CJD

Notari, S., Capellari, S., Giese, A., Westner, I., Baruzzi, A., Ghetti, B., Gambetti, P., Kretzschmar, H. A. & Parchi, P., Apr 16 2004, In : Journal of Biological Chemistry. 279, 16, p. 16797-16804 8 p.

Research output: Contribution to journalArticle

Molecular Typing
Prion Diseases
Digestion
Peptide Hydrolases
Phenotype
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
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

Letters
Mutation
Phenotype
Gene
121 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
30 Citations (Scopus)

Neurodegeneration caused by proteins with an aberrant carboxyl-terminus

Vidal, R., Delisle, M. B. & Ghetti, B., Aug 2004, In : Journal of Neuropathology and Experimental Neurology. 63, 8, p. 787-800 14 p.

Research output: Contribution to journalArticle

Ferritins
Nervous System Heredodegenerative Disorders
Molecular Biology
Chromosomes, Human, Pair 19
Chromosomes, Human, Pair 13
13 Citations (Scopus)

Soluble amyloid β-protein is increased in frontotemporal dementia with tau gene mutations

Vitali, A., Piccini, A., Borghi, R., Fornaro, P., Siedlak, S. L., Smith, M. A., Gambetti, P., Ghetti, B. & Tabaton, M., Feb 2004, In : Journal of Alzheimer's Disease. 6, 1, p. 45-51 7 p.

Research output: Contribution to journalArticle

Amyloidogenic Proteins
Frontotemporal Dementia
Mutation
Genes
Serum Amyloid A Protein
24 Citations (Scopus)

The Human Amyloid-β Precursor Protein770 Mutation V717F Generates Peptides Longer Than Amyloid-β-(40-42) and Flocculent Amyloid Aggregates

Roher, A. E., Kokjohn, T. A., Esh, C., Weiss, N., Childress, J., Kalback, W., Luehrs, D. C., Lopez, J., Brune, D., Kuo, Y. M., Farlow, M., Murrell, J., Vidal, R. & Ghetti, B., Feb 13 2004, In : Journal of Biological Chemistry. 279, 7, p. 5829-5836 8 p.

Research output: Contribution to journalArticle

Amyloid
Amyloid beta-Protein Precursor
Alzheimer Disease
Peptides
Mutation
2003
7 Citations (Scopus)

A murine model of a familial prion disease

Harris, D. A., Chiesa, R., Drisaldi, B., Quaglioa, E., Migheli, A., Piccardo, P. & Ghetti, B., Mar 1 2003, In : Clinics in Laboratory Medicine. 23, 1, p. 175-186 12 p.

Research output: Contribution to journalArticle

Prion Diseases
Prions
Mutant Proteins
Brain
Tissue
25 Citations (Scopus)

A novel leukoencephalopathy associated with tau deposits primarily in white matter glia

Powers, J. M., Byrne, N. P., Ito, M., Takao, M., Yankopoulou, D., Spillantini, M. G. & Ghetti, B., Aug 2 2003, In : Acta Neuropathologica. 106, 2, p. 181-187 7 p.

Research output: Contribution to journalArticle

Leukoencephalopathies
Neuroglia
Atrophy
Synucleins
Tauopathies
30 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
114 Citations (Scopus)

Molecular distinction between pathogenic and infectious properties of the prion protein

Chiesa, R., Piccardo, P., Quaglio, E., Drisaldi, B., Si-Hoe, S. L., Takao, M., Ghetti, B. & Harris, D. A., Jul 2003, In : Journal of Virology. 77, 13, p. 7611-7622 12 p.

Research output: Contribution to journalArticle

prions
PrPSc proteins
Prions
Mutant Proteins
Peptide Hydrolases

Prion diseases

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

Research output: Contribution to journalArticle

Prion Diseases
238 Citations (Scopus)

Ubiquitination of α-Synuclein in Lewy Bodies Is a Pathological Event Not Associated with Impairment of Proteasome Function

Tofaris, G. K., Razzaq, A., Ghetti, B., Lilley, K. S. & Spillantini, M. G., Nov 7 2003, In : Journal of Biological Chemistry. 278, 45, p. 44405-44411 7 p.

Research output: Contribution to journalArticle

Synucleins
Lewy Bodies
Ubiquitination
Proteasome Endopeptidase Complex
Lewy Body Disease
18 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 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
402 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., 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
50 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., 2002, In : Acta Neuropathologica. 104, 2, p. 155-170 16 p.

Research output: Contribution to journalArticle

Presenilin-1
Wool
Parkinsonian Disorders
Dendrites
Alzheimer Disease
116 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 : The Lancet. 359, 9325, p. 2242-2247 6 p.

Research output: Contribution to journalArticle

Dementia
Mutation
Inclusion Bodies
Progressive Myoclonic Epilepsy
Neurons
32 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
25 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., 2002, In : Archives of Neurology. 59, 6, p. 943-950 8 p.

Research output: Contribution to journalArticle

Haplotypes
Mutation
Genes
Chromosomes, Human, Pair 17
Parkinsonian Disorders
8 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., Ghetti, B. & Hendrie, H., Jun 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. & 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
18 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
206 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., 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
105 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
136 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., 2001, In : Journal of Neuropathology and Experimental Neurology. 60, 12, p. 1190-1197 8 p.

Research output: Contribution to journalArticle

tau Proteins
MAP Kinase Signaling System
Phosphotransferases
Phosphorylation
Apoptosis
55 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., 2001, In : Archives of Neurology. 58, 11, p. 1899-1902 4 p.

Research output: Contribution to journalArticle

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., 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., Ghetti, B. & Benson, M., 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
133 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., 2001, In : Journal of Neuropathology and Experimental Neurology. 60, 1, p. 94-104 11 p.

Research output: Contribution to journalArticle

Amyloidogenic Proteins
Cystatin C
Brain Diseases
Alzheimer Disease
Amyloid
46 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., Giaccone, G., Tagliavini, F., Bugiani, O., Piccardo, P., Hulette, C. M., Crain, B. J., Farlow, M. & Heyman, A., 2001, In : Journal of Neuropathology and Experimental Neurology. 60, 12, p. 1137-1152 16 p.

Research output: Contribution to journalArticle

Presenilin-1
Myoclonus
Alzheimer Disease
Seizures
Neurons
58 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., 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)
Cerebellar Nuclei
Purkinje Cells
Neurons
Homozygote
Thymidine
3 Citations (Scopus)

Gene symbol: PSEN1 Disease: Alzheimer disease

Ringman, J. M., Jain, V., Murrell, J., Ghetti, B. & Cochran, E. J., 2001, In : Human Genetics. 109, 2, p. 242 1 p.

Research output: Contribution to journalArticle

Alzheimer Disease
Genes
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
61 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
2000
124 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
60 Citations (Scopus)

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

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

Research output: Contribution to journalArticle

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., 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
231 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

Endopeptidase K
Prion Diseases
Protein Sequence Analysis
Codon
Prion Proteins
49 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

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., 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
34 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
59 Citations (Scopus)

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

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

Research output: Contribution to journalArticle

Progressive Myoclonic Epilepsy
Neurons
Mutation
Myoclonic Epilepsy
Aspiration Pneumonia