20112020
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Research Output 2011 2020

2020

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

Del Dotto, V., Ullah, F., Di Meo, I., Magini, P., Gusic, M., Maresca, A., Caporali, L., Palombo, F., Tagliavini, F., Baugh, E. H., Macao, B., Szilagyi, Z., Peron, C., Gustafson, M. A., Khan, K., La Morgia, C., Barboni, P., Carbonelli, M., Valentino, M. L., Liguori, R. & 27 others, Shashi, V., Sullivan, J., Nagaraj, S., El-Dairi, M., Iannaccone, A., Cutcutache, I., Bertini, E., Carrozzo, R., Emma, F., Diomedi-Camassei, F., Zanna, C., Armstrong, M., Page, M., Stong, N., Boesch, S., Kopajtich, R., Wortmann, S., Sperl, W., Davis, E. E., Copeland, W. C., Seri, M., Falkenberg, M., Prokisch, H., Katsanis, N., Tiranti, V., Pippucci, T. & Carelli, V., Jan 2 2020, In : Journal of Clinical Investigation. 130, 1, p. 108-125 18 p.

Research output: Contribution to journalArticle

Optic Atrophy
Mitochondrial DNA
Mutation
DNA Replication
Retinal Dystrophies
2019

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

GENetic Frontotemporal dementia Initiative (GENFI) , 2019, In : Brain. 142, 4, p. 1108-1120 13 p.

Research output: Contribution to journalArticle

Functional network resilience to pathology in presymptomatic genetic frontotemporal dementia

The Genetic Frontotemporal Dementia Initiative (GENFI), Rittman, T., Borchert, R., Jones, S., van Swieten, J., Borroni, B., Galimberti, D., Masellis, M., Tartaglia, M. C., Graff, C., Tagliavini, F., Frisoni, G. B., Laforce R., J., Finger, E., Mendonça, A., Sorbi, S., Rohrer, J. D. & Rowe, J. B., 2019, In : Neurobiology of Aging. 77, p. 169-177 9 p.

Research output: Contribution to journalArticle

Novel mutations in DNA2 associated with myopathy and mtDNA instability

Ronchi, D., Liu, C., Caporali, L., Piga, D., Li, H., Tagliavini, F., Valentino, M. L., Ferrò, M. T., Bini, P., Zheng, L., Carelli, V., Shen, B. & Comi, G. P., 2019, In : Annals of Clinical and Translational Neurology. 6, 9, p. 1893-1899

Research output: Contribution to journalArticle

Open Access
Muscular Diseases
Mitochondrial DNA
Mutation
Mitochondrial Myopathies
Nuclear Proteins

Novel mutations in DNA2 associated with myopathy and mtDNA instability

Ronchi, D., Liu, C., Caporali, L., Piga, D., Li, H., Tagliavini, F., Valentino, M. L., Ferrò, M. T., Bini, P., Zheng, L., Carelli, V., Shen, B. & Comi, G. P., Sep 2019, In : Annals of Clinical and Translational Neurology. 6, 9, p. 1893-1899 7 p.

Research output: Contribution to journalArticle

Muscular Diseases
Mitochondrial DNA
Mutation
Mitochondrial Myopathies
Nuclear Proteins

Review: PrP 106-126 - 25 years after

Forloni, G., Chiesa, R., Bugiani, O., Salmona, M. & Tagliavini, F., Aug 2019, In : Neuropathology and Applied Neurobiology. 45, 5, p. 430-440 11 p.

Research output: Contribution to journalReview article

Prion Diseases
Prions
Proteostasis Deficiencies
Amyloidogenic Proteins
Central Nervous System Diseases

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

The Genetic Frontotemporal Dementia Initiative (GENFI), 2019, In : NeuroImage. 188, p. 282-290 9 p.

Research output: Contribution to journalArticle

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

Premi, E., Calhoun, V. D., Diano, M., Gazzina, S., Cosseddu, M., Alberici, A., Archetti, S., Paternicò, D., 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., Vandenberghe, R. & 17 others, Finger, E., Tagliavini, F., de Mendonça, A., Santana, I., Butler, C., Ducharme, S., Gerhard, A., Danek, A., Levin, J., Otto, M., Frisoni, G., Cappa, S., Sorbi, S., Padovani, A., Rohrer, J. D., Borroni, B. & Genetic FTD Initiative, GENFI., 2019, In : NeuroImage. 189, p. 645-654 10 p.

Research output: Contribution to journalArticle

Ventricular volume expansion in presymptomatic genetic frontotemporal dementia

Genetic FTD Initiative, GENFI, Tavares, T. P., Mitchell, D. G. V., Coleman, K., Shoesmith, C., Bartha, R., Cash, D. M., Moore, K. M., van Swieten, J., Borroni, B., Galimberti, D., Tartaglia, M. C., Rowe, J., Graff, C., Tagliavini, F., Frisoni, G., Cappa, S., Laforce R., J., de Mendonça, A., Sorbi, S. & 4 others, Wallstrom, G., Masellis, M., Rohrer, J. D. & Finger, E. C., 2019, In : Neurology. 93, 18, p. e1699-e1706

Research output: Contribution to journalArticle

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., J., 2018, In : Journal of Alzheimer's Disease. 65, 1, p. 147-163 17 p.

Research output: Contribution to journalArticle

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., J., Finger, E., de Mendonça, A., Sorbi, S., Rossor, M. N., Ourselin, S. & Rohrer, J. D., 2018, In : Neurobiology of Aging. 62, p. 191-196 6 p.

Research output: Contribution to journalArticle

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy

Caporali, L., Iommarini, L., La Morgia, C., Olivieri, A., Achilli, A., Maresca, A., Valentino, M. L., Capristo, M., Tagliavini, F., Del Dotto, V., Zanna, C., Liguori, R., Barboni, P., Carbonelli, M., Cocetta, V., Montopoli, M., Martinuzzi, A., Cenacchi, G., De Michele, G., Testa, F. & 5 others, Nesti, A., Simonelli, F., Porcelli, A. M., Torroni, A. & Carelli, V., 2018, In : PLoS Genetics. 14, 2, e1007210.

Research output: Contribution to journalArticle

Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models

Iannielli, A., Bido, S., Folladori, L., Segnali, A., Cancellieri, C., Maresca, A., Massimino, L., Rubio, A., Morabito, G., Caporali, L., Tagliavini, F., Musumeci, O., Gregato, G., Bezard, E., Carelli, V., Tiranti, V. & Broccoli, V., Feb 20 2018, In : Cell Reports. 22, 8, p. 2094-2106 13 p.

Research output: Contribution to journalArticle

Cell death
Parkinson Disease
Cell Death
Pharmacology
Mitochondrial Dynamics

Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models

Iannielli, A., Bido, S., Folladori, L., Segnali, A., Cancellieri, C., Maresca, A., Massimino, L., Rubio, A., Morabito, G., Caporali, L., Tagliavini, F., Musumeci, O., Gregato, G., Bezard, E., Carelli, V., Tiranti, V. & Broccoli, V., Feb 2018, In : Cell Reports. 22, 8, p. 2066-2079 14 p.

Research output: Contribution to journalArticle

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., III., 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. A. & 113 others, Finger, E. C., Lippa, C. F., Huey, E. D., Neumann, M., Heutink, P., Synofzik, M., Wilke, C., Rissman, R. A., Slawek, J., Sitek, E., Johannsen, P., Nielsen, J. E., Ren, Y., van Blitterswijk, M., DeJesus-Hernandez, M., Christopher, E., Murray, M. E., Bieniek, K. F., Evers, B. M., Ferrari, C., Rollinson, S., Richardson, A., Scarpini, E., Fumagalli, G. G., Padovani, A., Hardy, J., Momeni, P., Ferrari, R., Frangipane, F., Maletta, R., Anfossi, M., Gallo, M., Petrucelli, L., Suh, E., Lopez, O. L., Wong, T. H., van Rooij, J. G. J., Seelaar, H., Mead, S., Caselli, R. J., Reiman, E. M., Noel Sabbagh, M., Kjolby, M., Nykjaer, A., Karydas, A. M., Boxer, A. L., Grinberg, L. T., Grafman, J., Spina, S., Oblak, A., Mesulam, M-M., Weintraub, S., Geula, C., Hodges, J. R., Piguet, O., Brooks, W. S., Irwin, D. J., Trojanowski, J. Q., Lee, E. B., Josephs, K. A., Parisi, J. E., Ertekin-Taner, N., Knopman, D. S., Nacmias, B., Piaceri, I., Bagnoli, S., Sorbi, S., Gearing, M., Glass, J., Beach, T. G., Black, S. E., Masellis, M., Rogaeva, E., Vonsattel, J-P., Honig, L. S., Kofler, J., Bruni, A. C., Snowden, J., Mann, D., Pickering-Brown, S., Diehl-Schmid, J., Winkelmann, J., Galimberti, D., Graff, C., Öijerstedt, L., Troakes, C., Al-Sarraj, S., Cruchaga, C., Cairns, N. J., Rohrer, J. D., Halliday, G. M., Kwok, J. B., van Swieten, J. C., White C.L., III., Ghetti, B., Murell, J. R., Mackenzie, I. R. A., Hsiung, G-YR., Borroni, B., Rossi, G., Tagliavini, F., Wszolek, Z. K., Petersen, R. C., Bigio, E. H., Grossman, M., Van Deerlin, V. M., Seeley, W. W., Miller, B. L., Graff-Radford, N. R., Boeve, B. F., Dickson, D. W., Biernacka, J. M. & Rademakers, R., 2018, In : The Lancet Neurology. 17, 6, p. 548-558 11 p.

Research output: Contribution to journalArticle

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., J., Finger, E., de Mendonça, A., Sorbi, S., Papma, J. M., van Swieten, J. C., Rohrer, J. D. & (GENFI), T. G. F. D. I., 2018, In : Annals of Clinical and Translational Neurology. 5, 9, p. 1025-1036 12 p.

Research output: Contribution to journalArticle

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

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., Frisoni, G. B., Laforce R., J. & 12 others, 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., (GENFI), G. FTD. I. & (ADNI), A. D. N. I., 2018, In : Nature Communications. 9, 1, p. 4273 1 p.

Research output: Contribution to journalArticle

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
Leber's Hereditary Optic Atrophy
Optic Nerve Diseases
Penetrance
Mitochondrial DNA
Autosomal Dominant Optic Atrophy

White matter hyperintensities are seen only in GRN mutation carriers in the GENFI cohort

Sudre, C. H., Bocchetta, M., Cash, D., Thomas, D. L., Woollacott, I., Dick, K. M., van Swieten, J., Borroni, B., Galimberti, D., Masellis, M., Tartaglia, M. C., Rowe, J. B., Graff, C., Tagliavini, F., Frisoni, G., Laforce R., J., Finger, E., de Mendonça, A., Sorbi, S., Ourselin, S. & 2 others, Cardoso, M. J. & Rohrer, J. D., 2017, In : NeuroImage: Clinical. 15, p. 171-180 10 p.

Research output: Contribution to journalArticle

Heterozygote
Mutation
Chromosomes, Human, Pair 9
Microtubule-Associated Proteins
Open Reading Frames
2015

Collagen VI-NG2 axis in human tendon fibroblasts under conditions mimicking injury response

Sardone, F., Santi, S., Tagliavini, F., Traina, F., Merlini, L., Squarzoni, S., Cescon, M., Wagener, R., Maraldi, N. M., Bonaldo, P., Faldini, C. & Sabatelli, P., Nov 3 2015, (Accepted/In press) In : Matrix Biology.

Research output: Contribution to journalArticle

Tendons
Collagen
Fibroblasts
Wounds and Injuries
Blocking Antibodies

PI-PLCβ1b affects Akt activation, cyclin E expression, and caspase cleavage, promoting cell survival in pro-B-lymphoblastic cells exposed to oxidative stress

Piazzi, M., Blalock, W. L., Bavelloni, A., Faenza, I., Raffini, M., Tagliavini, F., Manzoli, L. & Cocco, L., Apr 1 2015, In : FASEB Journal. 29, 4, p. 1383-1394 12 p.

Research output: Contribution to journalArticle

Cyclin E
Oxidative stress
B-Lymphoid Precursor Cells
Caspases
Cell Survival
2014

Aggresome-autophagy involvement in a sarcopenic patient with rigid spine syndrome and a p.C150R mutation in FHL1 gene

Sabatelli, P., Castagnaro, S., Tagliavini, F., Chrisam, M., Sardone, F., Demay, L., Richard, P., Santi, S., Maraldi, N. M., Merlini, L., Sandri, M. & Bonaldo, P., 2014, In : Frontiers in Aging Neuroscience. 6, AUG, Article 215.

Research output: Contribution to journalArticle

LIM Domain Proteins
Autophagy
Mutation
Muscles
Genes

Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies

Tagliavini, F., Pellegrini, C., Sardone, F., Squarzoni, S., Paulsson, M., Wagener, R., Gualandi, F., Trabanelli, C., Ferlini, A., Merlini, L., Santi, S., Maraldi, N. M., Faldini, C. & Sabatelli, P., 2014, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1842, 9, p. 1604-1612 9 p.

Research output: Contribution to journalArticle

Muscular Diseases
Skeletal Muscle
Collagen
Extracellular Matrix
Muscle Cells

Effect of mechanical strain on the collagen VI pericellular matrix in anterior cruciate ligament fibroblasts

Sardone, F., Traina, F., Tagliavini, F., Pellegrini, C., Merlini, L., Squarzoni, S., Santi, S., Neri, S., Faldini, C., Maraldi, N. & Sabatelli, P., 2014, In : Journal of Cellular Physiology. 229, 7, p. 878-886 9 p.

Research output: Contribution to journalArticle

Anterior Cruciate Ligament
Ligaments
Fibroblasts
Collagen
Non-Fibrillar Collagens

Melanocytes from patients affected by Ullrich congenital muscular dystrophy and Bethlem myopathy have dysfunctional mitochondria that can be rescued with cyclophilin inhibitors

Zulian, A., Tagliavini, F., Rizzo, E., Pellegrini, C., Sardone, F., Zini, N., Maraldi, N. M., Santi, S., Faldini, C., Merlini, L., Petronilli, V., Bernardi, P. & Sabatelli, P., 2014, In : Frontiers in Aging Neuroscience. 6, NOV, 324.

Research output: Contribution to journalArticle

Cyclophilins
Melanocytes
Mitochondria
Oligomycins
Collagen

NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models

Zulian, A., Rizzo, E., Schiavone, M., Palma, E., Tagliavini, F., Blaauw, B., Merlini, L., Maraldi, N. M. A., Sabatelli, P., Braghetta, P., Bonaldo, P., Argenton, F. & Bernardi, P., Oct 15 2014, In : Human Molecular Genetics. 23, 20, p. 5353-5363 11 p.

Research output: Contribution to journalArticle

Cyclophilins
Muscular Dystrophies
Immunosuppressive Agents
Collagen
Fertilization
2013

Ultrastructural changes in muscle cells of patients with collagen VI-related myopathies

Tagliavini, F., Sardone, F., Squarzoni, S., Maraldi, N. M., Merlini, L., Faldini, C. & Sabatelli, P., Oct 2013, In : Muscles, Ligaments and Tendons Journal. 3, 4, p. 281-286 6 p.

Research output: Contribution to journalArticle

Muscular Diseases
Muscle Cells
Mitochondria
Collagen
Muscles
2011

Ankrd2/ARPP is a novel Akt2 specific substrate and regulates myogenic differentiation upon cellular exposure to H 2O 2

Cenni, V., Bavelloni, A., Beretti, F., Tagliavini, F., Manzoli, L., Lattanzi, G., Maraldi, N. M., Cocco, L. & Marmiroli, S., Aug 15 2011, In : Molecular Biology of the Cell. 22, 16, p. 2946-2956 11 p.

Research output: Contribution to journalArticle

Phosphorylation
Muscle Cells
Ankyrin Repeat
Protein Databases
Muscle Development

Multiple forms of PKR present in the nuclei of acute leukemia cells represent an active kinase that is responsive to stress

Blalock, W. L., Bavelloni, A., Piazzi, M., Tagliavini, F., Faenza, I., Martelli, A. M., Follo, M. Y. & Cocco, L., Feb 2011, In : Leukemia. 25, 2, p. 236-245 10 p.

Research output: Contribution to journalArticle

Leukemia
Phosphotransferases
Cell Line
Neoplasms
Myelodysplastic Syndromes