• 14499 Citations
  • 65 h-Index
1978 …2019
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Research Output 1978 2019

  • 14499 Citations
  • 65 h-Index
  • 336 Article
  • 4 Chapter
  • 2 Letter
  • 1 Review article
2019

Cerebral perfusion changes in presymptomatic genetic frontotemporal dementia: a GENFI study

GENetic Frontotemporal dementia Initiative (GENFI) , Apr 1 2019, In : Brain : a journal of neurology. 142, 4, p. 1108-1120 13 p.

Research output: Contribution to journalArticle

Open Access
Cerebrovascular Circulation
Frontotemporal Dementia
Perfusion
Age of Onset
Mutation

Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene

Di Fede, G., Catania, M., Atzori, C., Moda, F., Pasquali, C., Indaco, A., Grisoli, M., Zuffi, M., Guaita, M. C., Testi, R., Taraglio, S., Sessa, M., Gusmaroli, G., Spinelli, M., Salzano, G., Legname, G., Tarletti, R., Godi, L., Pocchiari, M., Tagliavini, F. & 2 others, Imperiale, D. & Giaccone, G., Jan 3 2019, In : Acta neuropathologica communications. 7, 1, 1.

Research output: Contribution to journalArticle

Phenotype
Mutation
Creutzfeldt-Jakob Syndrome
Genes
Prion Diseases

Education modulates brain maintenance in presymptomatic frontotemporal dementia

Gazzina, S., Grassi, M., Premi, E., Cosseddu, M., Alberici, A., Archetti, S., Gasparotti, R., Van Swieten, J., Galimberti, D., Sanchez-Valle, R., Laforce, R. J., Moreno, F., Synofzik, M., Graff, C., Masellis, M., Tartaglia, M. C., Rowe, J. B., Vandenberghe, R., Finger, E., Tagliavini, F. & 13 others, De Mendonça, A., Santana, I., Butler, C. R., Ducharme, S., Gerhard, A., Danek, A., Levin, J., Otto, M., Frisoni, G., Sorbi, S., Padovani, A., Rohrer, J. D. & Borroni, B., Jan 1 2019, In : Journal of Neurology, Neurosurgery and Psychiatry.

Research output: Contribution to journalArticle

Frontotemporal Dementia
Maintenance
Education
Brain
Cognitive Reserve

Education modulates brain maintenance in presymptomatic frontotemporal dementia

Genetic FTD Initiative, GENFI, Gazzina, S., Grassi, M., Premi, E., Cosseddu, M., Alberici, A., Archetti, S., Gasparotti, R., Van Swieten, J., Galimberti, D., Sanchez-Valle, R., Laforce, R. J., Moreno, F., Synofzik, M., Graff, C., Masellis, M., Tartaglia, M. C., Rowe, J. B., Vandenberghe, R., Finger, E. & 14 others, Tagliavini, F., De Mendonça, A., Santana, I., Butler, C. R., Ducharme, S., Gerhard, A., Danek, A., Levin, J., Otto, M., Frisoni, G., Sorbi, S., Padovani, A., Rohrer, J. D. & Borroni, B., 2019, In : Journal of Neurology, Neurosurgery and Psychiatry. 90, 10, p. 1124-1130 7 p.

Research output: Contribution to journalArticle

Functional network resilience to pathology in presymptomatic genetic frontotemporal dementia

The Genetic Frontotemporal Dementia Initiative (GENFI), May 1 2019, In : Neurobiology of Aging. 77, p. 169-177 9 p.

Research output: Contribution to journalArticle

Open Access
Frontotemporal Dementia
Pathology
Brain
Neurodegenerative Diseases
Cognition

Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

International FTD-Genomics Consortium (IFGC) , Dec 1 2019, In : Scientific Reports. 9, 1, 10854.

Research output: Contribution to journalArticle

Open Access
Primary Progressive Aphasia
Gene Regulatory Networks
Semantics
Cell Death
RNA

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia

International Frontotemporal Dementia Genomics Consortium, 2019, In : Nature Medicine. 25, 1, p. 152-164

Research output: Contribution to journalArticle

Gene Regulatory Networks
Dementia
Genes
MicroRNAs
Pharmaceutical Databases

Italian consensus recommendations for a biomarker-based aetiological diagnosis in mild cognitive impairment patients

Boccardi, M., Nicolosi, V., Festari, C., Bianchetti, A., Cappa, S., Chiasserini, D., Falini, A., Guerra, U. P., Nobili, F., Padovani, A., Sancesario, G., Morbelli, S., Parnetti, L., Tiraboschi, P., Muscio, C., Perani, D., Pizzini, F. B., Beltramello, A., Salvini Porro, G., Ciaccio, M. & 4 others, Schillaci, O., Trabucchi, M., Tagliavini, F. & Frisoni, G. B., Jan 1 2019, (Accepted/In press) In : European Journal of Neurology.

Research output: Contribution to journalArticle

Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study

The Genetic Frontotemporal Dementia Initiative (GENFI), van der Ende, E. L., Meeter, L. H., Poos, J. M., Panman, J. L., Jiskoot, L. C., Dopper, E. G. P., Papma, J. M., de Jong, F. J., Verberk, I. M. W., Teunissen, C., Rizopoulos, D., Heller, C., Convery, R. S., Moore, K. M., Bocchetta, M., Neason, M., Cash, D. M., Borroni, B., Galimberti, D. & 24 others, Sanchez-Valle, R., Laforce, R., Moreno, F., Synofzik, M., Graff, C., Masellis, M., Carmela Tartaglia, M., Rowe, J. B., Vandenberghe, R., Finger, E., Tagliavini, F., de Mendonça, A., Santana, I., Butler, C., Ducharme, S., Gerhard, A., Danek, A., Levin, J., Otto, M., Frisoni, G. B., Cappa, S., Pijnenburg, Y. A. L., Rohrer, J. D. & van Swieten, J. C., Dec 2019, In : The Lancet Neurology. 18, 12, p. 1103-1111 9 p.

Research output: Contribution to journalArticle

Frontotemporal Dementia
Intermediate Filaments
Multicenter Studies
Cohort Studies
Light

Spatiotemporal analysis for detection of pre-symptomatic shape changes in neurodegenerative diseases: Initial application to the GENFI cohort

Cury, C., Durrleman, S., Cash, D. M., Lorenzi, M., Nicholas, J. M., Bocchetta, M., van Swieten, J. C., Borroni, B., Galimberti, D., Masellis, M., Tartaglia, C., Rowe, J. B., Graff, C., Tagliavini, F., Frisoni, G. B., Laforce, R., Finger, E., de Mendonça, A., Sorbi, S., Ourselin, S. & 45 others, Rohrer, J. D., Modat, M., Andersson, C., Archetti, S., Arighi, A., Benussi, L., Black, S., Cosseddu, M., Fallstrm, M., Ferreira, C., Fenoglio, C., Fox, N., Freedman, M., Fumagalli, G., Gazzina, S., Ghidoni, R., Grisoli, M., Jelic, V., Jiskoot, L., Keren, R., Lombardi, G., Maruta, C., Meeter, L., van Minkelen, R., Nacmias, B., ijerstedt, L., Padovani, A., Panman, J., Pievani, M., Polito, C., Premi, E., Prioni, S., Rademakers, R., Redaelli, V., Rogaeva, E., Rossi, G., Rossor, M., Scarpini, E., Tang-Wai, D., Tartaglia, C., Thonberg, H., Tiraboschi, P., Verdelho, A., Warren, J. & GENFI1, G. FTD. I., Mar 2019, In : NeuroImage. 188, p. 282-290 9 p.

Research output: Contribution to journalArticle

Spatio-Temporal Analysis
Neurodegenerative Diseases
Atrophy
Thalamus
Frontotemporal Dementia

The inner fluctuations of the brain in presymptomatic Frontotemporal Dementia: The chronnectome fingerprint

Genetic FTD Initiative, GENFI, Apr 1 2019, In : NeuroImage. 189, p. 645-654 10 p.

Research output: Contribution to journalArticle

Frontotemporal Dementia
Dermatoglyphics
Brain
Magnetic Resonance Imaging
Neurobehavioral Manifestations

Ventricular volume expansion in presymptomatic genetic frontotemporal dementia

Genetic FTD Initiative, GENFI, Oct 2 2019, In : Neurology.

Research output: Contribution to journalArticle

Frontotemporal Dementia
Mutation
Magnetic Resonance Imaging
Asymptomatic Diseases
Disease Progression

White matter hyperintensities in progranulin-associated frontotemporal dementia: A longitudinal GENFI study

Sudre, C. H., Bocchetta, M., Heller, C., Convery, R., Neason, M., Moore, K. M., Cash, D. M., Thomas, D. L., Woollacott, I. O. C., Foiani, M., Heslegrave, A., Shafei, R., Greaves, C., van Swieten, J., Moreno, F., Sanchez-Valle, R., Borroni, B., Laforce, R., Masellis, M., Tartaglia, M. C. & 21 others, Graff, C., Galimberti, D., Rowe, J. B., Finger, E., Synofzik, M., Vandenberghe, R., de Mendonça, A., Tagliavini, F., Santana, I., Ducharme, S., Butler, C., Gerhard, A., Levin, J., Danek, A., Frisoni, G. B., Sorbi, S., Otto, M., Zetterberg, H., Ourselin, S., Cardoso, M. J. & Rohrer, J. D., 2019, In : NeuroImage: Clinical. 24

Research output: Contribution to journalArticle

White matter hyperintensities in progranulin-associated frontotemporal dementia: A longitudinal GENFI study

Genetic FTD Initiative, GENFI, Sudre, C. H., Bocchetta, M., Heller, C., Convery, R., Neason, M., Moore, K. M., Cash, D. M., Thomas, D. L., Woollacott, I. O. C., Foiani, M., Heslegrave, A., Shafei, R., Greaves, C., van Swieten, J., Moreno, F., Sanchez-Valle, R., Borroni, B., Laforce, R., Masellis, M. & 22 others, Tartaglia, M. C., Graff, C., Galimberti, D., Rowe, J. B., Finger, E., Synofzik, M., Vandenberghe, R., de Mendonça, A., Tagliavini, F., Santana, I., Ducharme, S., Butler, C., Gerhard, A., Levin, J., Danek, A., Frisoni, G. B., Sorbi, S., Otto, M., Zetterberg, H., Ourselin, S., Cardoso, M. J. & Rohrer, J. D., 2019, In : NeuroImage: Clinical. 24, 102077.

Research output: Contribution to journalArticle

Open Access
2018

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

Zhang, M., Ferrari, R., Tartaglia, M. C., Keith, J., Surace, E. I., Wolf, U., Sato, C., Grinberg, M., Liang, Y., Xi, Z., Dupont, K., McGoldrick, P., Weichert, A., McKeever, P. M., Schneider, R., McCorkindale, M. D., Manzoni, C., Rademakers, R., Graff-Radford, N. R., Dickson, D. W. & 61 others, Parisi, J. E., Boeve, B. F., Petersen, R. C., Miller, B. L., Seeley, W. W., Van Swieten, J. C., Van Rooij, J., Pijnenburg, Y., Van Der Zee, J., Van Broeckhoven, C., Le Ber, I., Van Deerlin, V., Suh, E., Rohrer, J. D., Mead, S., Graff, C., Öijerstedt, L., Pickering-Brown, S., Rollinson, S., Rossi, G., Tagliavini, F., Brooks, W. S., Dobson-Stone, C., Halliday, G. M., Hodges, J. R., Piguet, O., Binetti, G., Benussi, L., Ghidoni, R., Nacmias, B., Sorbi, S., Bruni, A. C., Galimberti, D., Scarpini, E., Rainero, I., Rubino, E., Clarimon, J., Lleó, A., Ruiz, A., Hernández, I., Pastor, P., Diez-Fairen, M., Borroni, B., Pasquier, F., Deramecourt, V., Lebouvier, T., Perneczky, R., Diehl-Schmid, J., Grafman, J., Huey, E. D., Mayeux, R., Nalls, M. A., Hernandez, D., Singleton, A., Momeni, P., Zeng, Z., Hardy, J., Robertson, J., Zinman, L., Rogaeva, E. & International FTD-Genomics Consortium (IFGC), 2018, In : Brain. 141, 10, p. 2895-2907 13 p.

Research output: Contribution to journalArticle

Age of Onset
DNA Methylation
HLA-DRB1 Chains
Alleles
Single Nucleotide Polymorphism

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

International FTD-Genomics Consortium (IFGC) , Forloni, G. & Albani, D., Oct 1 2018, In : Brain. 141, 10, p. 2895-2907 13 p.

Research output: Contribution to journalArticle

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

International FTD-Genomics Consortium (IFGC) , Oct 1 2018, In : Brain : a journal of neurology. 141, 10, p. 2895-2907 13 p.

Research output: Contribution to journalArticle

Age of Onset
DNA Methylation
HLA-DRB1 Chains
Alleles
Single Nucleotide Polymorphism

Alzheimer neuropathology without frontotemporal lobar degeneration hallmarks (TAR DNA-binding protein 43 inclusions) in missense progranulin mutation Cys139Arg

Redaelli, V., Rossi, G., Maderna, E., Kovacs, G. G., Piccoli, E., Caroppo, P., Cacciatore, F., Spinello, S., Grisoli, M., Sozzi, G., Salmaggi, A., Tagliavini, F. & Giaccone, G., Jan 1 2018, In : Brain Pathology. 28, 1, p. 72-76 5 p.

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
DNA-Binding Proteins
Missense Mutation
Frontotemporal Dementia
Alzheimer Disease

Combining drug and music therapy in patients with moderate Alzheimer’s disease: a randomized study

Giovagnoli, A. R., Manfredi, V., Schifano, L., Paterlini, C., Parente, A. & Tagliavini, F., Jun 1 2018, In : Neurological Sciences. 39, 6, p. 1021-1028 8 p.

Research output: Contribution to journalArticle

Music Therapy
Alzheimer Disease
Language
Drug Therapy
Activities of Daily Living

Comparison of arterial spin labeling registration strategies in the multi-center GENetic frontotemporal dementia initiative (GENFI)

Mutsaerts, H. J. M. M., Petr, J., Thomas, D. L., De Vita, E., Cash, D. M., van Osch, M. J. P., Golay, X., Groot, P. F. C., Ourselin, S., van Swieten, J., Laforce, R., Tagliavini, F., Borroni, B., Galimberti, D., Rowe, J. B., Graff, C., Pizzini, F. B., Finger, E., Sorbi, S., Castelo Branco, M. & 31 others, Rohrer, J. D., Masellis, M., MacIntosh, B. J., Rossor, M., Fox, N., Warren, J., Bocchetta, M., Dick, K., Pievani, M., Ghidoni, R., Benussi, L., Padovani, A., Cosseddu, M., Mendonça, A., Frisoni, G., Premi, E., Archetti, S., Scarpini, E., Fumagalli, G., Arighi, A., Fenoglio, C., Prioni, S., Redaelii, V., Grisoli, M., Tiraboschi, P., Black, S., Rogaeva, E., Freedman, M., Tartaglia, M. C., Tang-Wai, D. & on behalf of the GENFI investigators, Jan 1 2018, In : Journal of Magnetic Resonance Imaging. 47, 1, p. 131-140 10 p.

Research output: Contribution to journalArticle

Cerebrovascular Circulation
Frontotemporal Dementia
Perfusion
Brain
Masks
Cerebrovascular Circulation
Frontotemporal Dementia
Perfusion
Brain
Masks

CXCR4 involvement in neurodegenerative diseases

Bonham, L. W., Karch, C. M., Fan, C. C., Tan, C., Geier, E. G., Wang, Y., Wen, N., Broce, I. J., Li, Y., Barkovich, M. J., Ferrari, R., Hardy, J., Momeni, P., Höglinger, G., Müller, U., Hess, C. P., Sugrue, L. P., Dillon, W. P., Schellenberg, G. D., Miller, B. L. & 158 others, Andreassen, O. A., Dale, A. M., Barkovich, A. J., Yokoyama, J. S., Desikan, R. S., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Schofield, P. R., Halliday, G. M., Hodges, J. R., Piguet, O., Bartley, L., Thompson, E., Haan, E., Hernández, I., Ruiz, A., Boada, M., Borroni, B., Padovani, A., Cruchaga, C., Cairns, N. J., Benussi, L., Binetti, G., Ghidoni, R., Forloni, G., Albani, D., Galimberti, D., Fenoglio, C., Serpente, M., Scarpini, E., Clarimón, J., Lleó, A., Blesa, R., Waldö, M. L., Nilsson, K., Nilsson, C., MacKenzie, I. R. A., Hsiung, G-YR., Mann, D. M. A., Grafman, J., Morris, C. M., Attems, J., Griffiths, T. D., McKeith, I. G., Thomas, A. J., Pietrini, P., Huey, E. D., Wassermann, E. M., Baborie, A., Jaros, E., Tierney, M. C., Pastor, P., Razquin, C., Ortega-Cubero, S., Alonso, E., Perneczky, R., Diehl-Schmid, J., Alexopoulos, P., Kurz, A., Rainero, I., Rubino, E., Pinessi, L., Rogaeva, E., George-Hyslop, P. S., Rossi, G., Tagliavini, F., Giaccone, G., Rowe, J. B., Schlachetzki, J. C. M., Uphill, J., Collinge, J., Mead, S., Danek, A., Van Deerlin, V. M., Grossman, M., Trojanowski, J. Q., Van Der Zee, J., Cruts, M., Van Broeckhoven, C., Cappa, S. F., Leber, I., Hannequin, D., Golfier, V., Vercelletto, M., Brice, A., Nacmias, B., Sorbi, S., Bagnoli, S., Piaceri, I., Nielsen, J. E., Hjermind, L. E., Riemenschneider, M., Mayhaus, M., Ibach, B., Gasparoni, G., Pichler, S., Gu, W., Rossor, M. N., Fox, N. C., Warren, J. D., Spillantini, M. G., Morris, H. R., Rizzu, P., Heutink, P., Snowden, J. S., Rollinson, S., Richardson, A., Gerhard, A., Bruni, A. C., Maletta, R., Frangipane, F., Cupidi, C., Bernardi, L., Anfossi, M., Gallo, M., Conidi, M. E., Smirne, N., Rademakers, R., Baker, M., Dickson, D. W., Graff-Radford, N. R., Petersen, R. C., Knopman, D., Josephs, K. A., Boeve, B. F., Parisi, J. E., Seeley, W. W., Karydas, A. M., Rosen, H., Van Swieten, J. C., Dopper, E. G. P., Seelaar, H., Pijnenburg, Y. A. L., Scheltens, P., Logroscino, G., Capozzo, R., Novelli, V., Puca, A. A., Franceschi, M., Postiglione, A., Milan, G., Sorrentino, P., Kristiansen, M., Chiang, H-H., Graff, C., Pasquier, F., Rollin, A., Deramecourt, V., Lebouvier, T., Kapogiannis, D., Ferrucci, L., Pickering-Brown, S., Singleton, A. B. & International FTD-Genomics Consortium (IFGC) International Parkinson's Disease Genetics Consortium (IPDGC), I. G. O. A. P. IGAP., 2018, In : Translational Psychiatry. 8, 1

Research output: Contribution to journalArticle

Progressive Supranuclear Palsy
Neurodegenerative Diseases
Parkinson Disease
Frontotemporal Dementia
Brain

Distinct neuroanatomical correlates of neuropsychiatric symptoms in the three main forms of genetic frontotemporal dementia in the GENFI Cohort

Sellami, L., Bocchetta, M., Masellis, M., Cash, D. M., Dick, K. M., Van Swieten, J., Borroni, B., Galimberti, D., Tartaglia, M. C., Rowe, J. B., Graff, C., Tagliavini, F., Frisoni, G., Finger, E., De Mendonça, A., Sorbi, S., Warren, J. D., Rohrer, J. D., Laforce, R. & on behalf of the GENFI investigators, Jul 1 2018, In : Journal of Alzheimer's Disease. 65, 1, p. 147-163 17 p.

Research output: Contribution to journalArticle

Frontotemporal Dementia
Atrophy
Hallucinations
Mutation
Delusions

Distinct patterns of brain atrophy in Genetic Frontotemporal Dementia Initiative (GENFI) cohort revealed by visual rating scales

Fumagalli, G. G., Basilico, P., Arighi, A., Bocchetta, M., Dick, K. M., Cash, D. M., Harding, S., Mercurio, M., Fenoglio, C., Pietroboni, A. M., Ghezzi, L., van Swieten, J., Borroni, B., de Mendonça, A., Masellis, M., Tartaglia, M. C., Rowe, J. B., Graff, C., Tagliavini, F., Frisoni, G. B. & 7 others, Laforce, R., Finger, E., Sorbi, S., Scarpini, E., Rohrer, J. D., Galimberti, D. & Genetic FTD Initiative (GENFI), May 24 2018, In : Alzheimer's Research and Therapy. 10, 1, p. 46

Research output: Contribution to journalArticle

Frontotemporal Dementia
Atrophy
Brain
Microtubule-Associated Proteins
Temporal Lobe

Distinct patterns of brain atrophy in Genetic Frontotemporal Dementia Initiative (GENFI) cohort revealed by visual rating scales

Fumagalli, G. G., Basilico, P., Arighi, A., Bocchetta, M., Dick, K. M., Cash, D. M., Harding, S., Mercurio, M., Fenoglio, C., Pietroboni, A. M., Ghezzi, L., Van Swieten, J., Borroni, B., De Mendonça, A., Masellis, M., Tartaglia, M. C., Rowe, J. B., Graff, C., Tagliavini, F., Frisoni, G. B. & 6 others, Laforce, R., Finger, E., Sorbi, S., Scarpini, E., Rohrer, J. D. & Galimberti, D., May 24 2018, In : Alzheimer's Research and Therapy. 10, 1, 46.

Research output: Contribution to journalArticle

Frontotemporal Dementia
Atrophy
Brain
Microtubule-Associated Proteins
Temporal Lobe

Effects of peptidyl-prolyl isomerase 1 depletion in animal models of prion diseases

Legname, G., Virgilio, T., Bistaffa, E., De Luca, C. M. G., Catania, M., Zago, P., Isopi, E., Campagnani, I., Tagliavini, F., Giaccone, G. & Moda, F., Mar 4 2018, In : Prion. 12, 2, p. 127-137 11 p.

Research output: Contribution to journalArticle

Peptidylprolyl Isomerase
Prion Diseases
Protein Stability
Prions
Huntington Disease

Hemoglobin mRNA changes in the frontal cortex of patients with neurodegenerative diseases

Vanni, S., Zattoni, M., Moda, F., Giaccone, G., Tagliavini, F., Haïk, S., Deslys, J. P., Zanusso, G., Ironside, J. W., Carmona, M., Ferrer, I., Kovacs, G. G. & Legname, G., Jan 22 2018, In : Frontiers in Neuroscience. 12, JAN, 8.

Research output: Contribution to journalArticle

Frontal Lobe
Neurodegenerative Diseases
Hemoglobins
Messenger RNA
Prion Diseases

Iatrogenic Creutzfeldt-Jakob disease with Amyloid-β pathology

Cali, I., Cohen, M. L., Haik, S., Parchi, P., Giaccone, G., Collins, S. J., Kofskey, D., Wang, H., McLean, C. A., Brandel, J. P., Privat, N., Sazdovitch, V., Duyckaerts, C., Kitamoto, T., Belay, E. D., Maddox, R. A., Tagliavini, F., Pocchiari, M., Leschek, E., Appleby, B. S. & 3 others, Safar, J. G., Schonberger, L. B. & Gambetti, P., Jan 8 2018, In : Acta neuropathologica communications. 6, 1

Research output: Contribution to journalArticle

Creutzfeldt-Jakob Syndrome
Amyloid
Pathology
Dura Mater
Cerebral Amyloid Angiopathy

Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

International FTD-Genomics Consortium, Jan 1 2018, In : PLoS Medicine. 15, 1, e1002487.

Research output: Contribution to journalArticle

Frontotemporal Dementia
Genome-Wide Association Study
Immune System Diseases
HLA Antigens
Progressive Supranuclear Palsy

In Situ Tissue Labeling of Cerebral Amyloid Using HIV-Related Tat Peptide

Maderna, E., Colombo, L., Cagnotto, A., Di Fede, G., Indaco, A., Tagliavini, F., Salmona, M. & Giaccone, G., Aug 1 2018, In : Molecular Neurobiology. 55, 8, p. 6834-6840 7 p.

Research output: Contribution to journalArticle

Amyloid Plaques
Amyloid
HIV
Alzheimer Disease
Brain

Molecular subtypes of Alzheimer's disease

Di Fede, G., Catania, M., Maderna, E., Ghidoni, R., Benussi, L., Tonoli, E., Giaccone, G., Moda, F., Paterlini, A., Campagnani, I., Sorrentino, S., Colombo, L., Kubis, A., Bistaffa, E., Ghetti, B. & Tagliavini, F., Dec 1 2018, In : Scientific Reports. 8, 1, 3269.

Research output: Contribution to journalArticle

Alzheimer Disease
Amyloid
Brain
Amyloidosis
Phenotype

Patterns of gray matter atrophy in genetic frontotemporal dementia: results from the GENFI study

Cash, D. M., Bocchetta, M., Thomas, D. L., Dick, K. M., van Swieten, J. C., Borroni, B., Galimberti, D., Masellis, M., Tartaglia, M. C., Rowe, J. B., Graff, C., Tagliavini, F., Frisoni, G. B., Laforce, R., Finger, E., de Mendonça, A., Sorbi, S., Rossor, M. N., Ourselin, S., Rohrer, J. D. & 1 others, Genetic FTD Initiative, GENFI, Feb 1 2018, In : Neurobiology of Aging. 62, p. 191-196 6 p.

Research output: Contribution to journalArticle

Frontotemporal Dementia
Atrophy
Mutation
Gyrus Cinguli
Parietal Lobe

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. & 30 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., Sorbi, S., Galimberti, D., Borroni, B., Rossi, G. & Tagliavini, F., Jun 2018, In : The Lancet Neurology.

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
Inborn Genetic Diseases
Genome-Wide Association Study
Age of Onset
Meta-Analysis

Presymptomatic white matter integrity loss in familial frontotemporal dementia in the GENFI cohort: A cross-sectional diffusion tensor imaging study

Jiskoot, L. C., Bocchetta, M., Nicholas, J. M., Cash, D. M., Thomas, D., Modat, M., Ourselin, S., Rombouts, S. A. R. B., Dopper, E. G. P., Meeter, L. H., Panman, J. L., van Minkelen, R., van der Ende, E. L., Donker Kaat, L., Pijnenburg, Y. A. L., Borroni, B., Galimberti, D., Masellis, M., Tartaglia, M. C., Rowe, J. & 11 others, Graff, C., Tagliavini, F., Frisoni, G. B., Laforce, R., Finger, E., de Mendonça, A., Sorbi, S., Papma, J. M., van Swieten, J. C., Rohrer, J. D. & (GENFI), O. B. O. T. G. F. D. I., Jul 2018, In : Annals of Clinical and Translational Neurology.

Research output: Contribution to journalArticle

Frontotemporal Dementia
Diffusion Tensor Imaging
Dementia
Mutation
Internal Capsule

Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: Results from the GENFI study

Galimberti, D., Fumagalli, G. G., Fenoglio, C., Cioffi, S. M. G., Arighi, A., Serpente, M., Borroni, B., Padovani, A., Tagliavini, F., Masellis, M., Tartaglia, M. C., van Swieten, J., Meeter, L., Graff, C., de Mendonça, A., Bocchetta, M., Rohrer, J. D. & Scarpini, E., 2018, In : Neurobiology of Aging. 62, p. 245.e9-245.e12

Research output: Contribution to journalArticle

Atrophy
Mutation
Brain
Frontotemporal Dementia
Age of Onset

Synthetic Prion Selection and Adaptation

Bistaffa, E., Moda, F., Virgilio, T., Campagnani, I., De Luca, C. M. G., Rossi, M., Salzano, G., Giaccone, G., Tagliavini, F. & Legname, G., Jan 1 2018, (Accepted/In press) In : Molecular Neurobiology.

Research output: Contribution to journalArticle

Prions
Proteins
PrPSc Proteins
Fourier Analysis
Protein Isoforms

Tau mutations as a novel risk factor for cancer—response

Rossi, G., Redaelli, V., Perego, P., Ferrari, R., Giaccone, G. & Tagliavini, F., Nov 15 2018, In : Cancer Research. 78, 22, 1 p.

Research output: Contribution to journalLetter

Tau Mutations Serve as a Novel Risk Factor for Cancer

Rossi, G., Redaelli, V., Contiero, P., Fabiano, S., Tagliabue, G., Perego, P., Benussi, L., Bruni, A. C., Filippini, G., Farinotti, M., Giaccone, G., Buiatiotis, S., Manzoni, C., Ferrari, R. & Tagliavini, F., Jul 1 2018, In : Cancer Research. 78, 13, p. 3731-3739 9 p.

Research output: Contribution to journalArticle

Mutation
Tauopathies
Neoplasms
tau Proteins
Genomic Instability

The role of clinical and neuroimaging features in the diagnosis of CADASIL

on behalf of Lombardia GENS-group, 2018, In : Journal of Neurology. 265, 12, p. 2934-2943

Research output: Contribution to journalArticle

CADASIL
Neuroimaging
Lacunar Stroke
Cerebral Small Vessel Diseases
History

Translational Research in Alzheimer's and Prion Diseases

Di Fede, G., Giaccone, G., Salmona, M. & Tagliavini, F., Jan 1 2018, In : Journal of Alzheimer's Disease. 62, 3, p. 1247-1259 13 p.

Research output: Contribution to journalReview article

Prion Diseases
Translational Medical Research
Alzheimer Disease
Neurosciences
Biomarkers

Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference

Alzheimer’s Disease Neuroimaging Initiative (ADNI), Genetic FTD Initiative (GENFI), Young, A. L., Marinescu, R. V., Oxtoby, N. P., Bocchetta, M., Yong, K., Firth, N. C., Cash, D. M., Thomas, D. L., Dick, K. M., Cardoso, J., van Swieten, J., Borroni, B., Galimberti, D., Masellis, M., Tartaglia, M. C., Rowe, J. B., Graff, C., Tagliavini, F. & 14 others, Frisoni, G. B., Laforce, R., Finger, E., de Mendonça, A., Sorbi, S., Warren, J. D., Crutch, S., Fox, N. C., Ourselin, S., Schott, J. M., Rohrer, J. D., Alexander, D. C., (ADNI), A. D. N. I. & (GENFI), G. FTD. I., Oct 15 2018, In : Nature Communications. 9, 1, 1 p.

Research output: Contribution to journalArticle

Neurodegenerative diseases
inference
Neurodegenerative Diseases
Aptitude
Genotype

V363I and V363A mutated tau affect aggregation and neuronal dysfunction differently in C. elegans

Morelli, F., Romeo, M., Barzago, M. M., Bolis, M., Mattioni, D., Rossi, G., Tagliavini, F., Bastone, A., Salmona, M. & Diomede, L., Sep 2018, In : Neurobiology of Disease. 117, p. 226-234 9 p.

Research output: Contribution to journalArticle

Mutation
Tauopathies
Microtubule-Associated Proteins
Phenotype
Frontotemporal Lobar Degeneration
2017

Cognitive reserve and TMEM106B genotype modulate brain damage in presymptomatic frontotemporal dementia: A GENFI study

Premi, E., Grassi, M., Van Swieten, J., Galimberti, D., Graff, C., Masellis, M., Tartaglia, C., Tagliavini, F., Rowe, J. B., Laforce, R., Finger, E., Frisoni, G. B., De Mendonça, A., Sorbi, S., Gazzina, S., Cosseddu, M., Archetti, S., Gasparotti, R., Manes, M., Alberici, A. & 7 others, Cardoso, M. J., Bocchetta, M., Cash, D. M., Ourselin, S., Padovani, A., Rohrer, J. D. & Borroni, B., 2017, In : Brain. 140, 6, p. 1784-1791 8 p.

Research output: Contribution to journalArticle

Cognitive Reserve
Frontotemporal Dementia
Genotype
Brain
Mutation

Deep learning representation from electroencephalography of early-stage creutzfeldt-jakob disease and features for differentiation from rapidly progressive dementia

Morabito, F. C., Campolo, M., Mammone, N., Versaci, M., Franceschetti, S., Tagliavini, F., Sofia, V., Fatuzzo, D., Gambardella, A., Labate, A., Mumoli, L., Tripodi, G. G., Gasparini, S., Cianci, V., Sueri, C., Ferlazzo, E. & Aguglia, U., Mar 1 2017, In : International Journal of Neural Systems. 27, 2, 1650039.

Research output: Contribution to journalArticle

Electroencephalography
Supervised learning
Processing
Unsupervised learning
Multilayer neural networks

Detection of prion seeding activity in the olfactory mucosa of patients with Fatal Familial Insomnia

Redaelli, V., Bistaffa, E., Zanusso, G., Salzano, G., Sacchetto, L., Rossi, M., De Luca, C. M. G., Di Bari, M., Portaleone, S. M., Agrimi, U., Legname, G., Roiter, I., Forloni, G., Tagliavini, F. & Moda, F., Apr 7 2017, In : Scientific Reports. 7, p. 46269

Research output: Contribution to journalArticle

Fatal Familial Insomnia
Olfactory Mucosa
Prions
Frontotemporal Dementia
Inborn Genetic Diseases

Differential overexpression of SERPINA3 in human prion diseases

Vanni, S., Moda, F., Zattoni, M., Bistaffa, E., De Cecco, E., Rossi, M., Giaccone, G., Tagliavini, F., Haïk, S., Deslys, J. P., Zanusso, G., Ironside, J. W., Ferrer, I., Kovacs, G. G. & Legname, G., Dec 1 2017, In : Scientific Reports. 7, 1, 15637.

Research output: Contribution to journalArticle

Prion Diseases
Fatal Familial Insomnia
Up-Regulation
Creutzfeldt-Jakob Syndrome
Prions

Effects of Multiple Genetic Loci on Age at Onset in Frontotemporal Dementia

Ferrari, R., Grassi, M., Graziano, F., Palluzzi, F., Archetti, S., Bonomi, E., Bruni, A. C., Maletta, R. G., Bernardi, L., Cupidi, C., Colao, R., Rainero, I., Rubino, E., Pinessi, L., Galimberti, D., Scarpini, E., Serpente, M., Nacmias, B., Piaceri, I., Bagnoli, S. & 11 others, Rossi, G., Giaccone, G., Tagliavini, F., Benussi, L., Binetti, G., Ghidoni, R., Singleton, A., Hardy, J., Momeni, P., Padovani, A. & Borroni, B., 2017, In : Journal of Alzheimer's Disease. 56, 4, p. 1271-1278 8 p.

Research output: Contribution to journalArticle

Frontotemporal Dementia
Genetic Loci
Age of Onset
Single Nucleotide Polymorphism
Linear Models

Missense mutation in GRN gene affecting RNA splicing and plasma progranulin level in a family affected by frontotemporal lobar degeneration

Luzzi, S., Colleoni, L., Corbetta, P., Baldinelli, S., Fiori, C., Girelli, F., Silvestrini, M., Caroppo, P., Giaccone, G., Tagliavini, F. & Rossi, G., Jun 1 2017, In : Neurobiology of Aging. 54, p. 214.e1-214.e6

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
RNA Splicing
Missense Mutation
Haploinsufficiency
Mutation

Pathogenic Aβ A2V versus protective Aβ A2T mutation: Early stage aggregation and membrane interaction

Colombo, L., Gamba, A., Cantù, L., Salmona, M., Tagliavini, F., Rondelli, V., Del Favero, E. & Brocca, P., Oct 2017, In : Biophysical Chemistry. 229, p. 11-18 8 p.

Research output: Contribution to journalArticle

Agglomeration
Membranes
Mutation
Amyloid beta-Protein Precursor
Gangliosides