COLOMBRITA, CLAUDIA
COLOMBRITA, CLAUDIA
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
Influence of kidney function and CSF/serum albumin ratio on plasma Aβ42 and Aβ40 levels measured on a fully automated platform in patients with Alzheimer’s disease
2023 F. Verde, I. Milone, A. Dubini, C. Colombrita, A. Perego, F. Solca, A. Maranzano, E. Ciusani, B. Poletti, A. Ratti, E. Torresani, V. Silani, N. Ticozzi
U1 snRNA as a novel RNA-based therapeutic approach to modulate C9ORF72 pathology in patient-derived iPSC-motoneurons
2023 S. Invernizzi, S. Santangelo, E. Bussani, G. Romano, C. Colombrita, V. Casiraghi, M. Nice Sorce, P. Bossolasco, V. Silani, F. Pagani, A. Ratti
Human motor neurons derived from induced pluripotent stem cells are susceptible to SARS-CoV-2 infection
2023 G. Cappelletti, C. Colombrita, F. Limanaqi, S. Invernizzi, M. Garziano, C. Vanetti, C. Moscheni, S. Santangelo, S. Zecchini, D. Trabattoni, V. Silani, M. Clerici, A. Ratti, M. Biasin
Motor, cognitive and behavioural profiles of C9orf72 expansion-related amyotrophic lateral sclerosis
2022 E. Colombo, B. Poletti, A. Maranzano, S. Peverelli, F. Solca, C. Colombrita, S. Torre, C. Tiloca, F. Verde, R. Bonetti, L. Carelli, C. Morelli, A. Ratti, V. Silani, N. Ticozzi
U1 snRNA as a novel RNA-based therapeutic approach to modulate C9ORF72 pathology in patient-derived iPSC-motoneurons
2022 S. Santangelo, C. Colombrita, E. Bussani, S. Invernizzi, M. Nice Sorce, V. Casiraghi, C. Lattuada, P. Bossolasco, V. Silani, F. Pagani, A. Ratti
Modeling a novel N-terminal mutation of KIF5A gene in patient-derived iPSC-motoneurons
2022 S. Santangelo, P. Bossolasco, C. Fallini, S. Magri, M. Bertocchi, S. Invernizzi, D. Di Bella, D. Bardelli, C. Colombrita, V. Silani, F. Taroni, A. Ratti
Modelling ALS disease by 2D and 3D in vitro models of patient-derived iPSC
2022 P. Bossolasco, S. Santangelo, L. Lattuada, M.N. Sorce, C. Colombrita, V. Casiraghi, S. Peverelli, A. Ratti, V. Silani
Characterization of iPSC-motoneurons from a HSP patient with a novel mutation in KIF5A N-terminal region Characterization of iPSCmotoneurons from a HSP patient with a novel mutation in KIF5A N-terminal region
2022 S. Santangelo, P. Bossolasco, C. Fallini, S. Magri, M. Bertocchi, S. Invernizzi, D. Di Bella, D. Bardelli, C. Colombrita, V. Silani, F. Taroni, A. Ratti
Effect of the C9ORF72-NEK1 dobuble mutation on DNA damage response in patient-derived iPSC-motoneurons
2021 S. Santangelo, C. Colombrita, P. Bossolasco, S. Peverelli, S. Invernizzi, A. Brusati, V. Gumina, D. Bardelli, N. Ticozzi, V. Silani, A. Ratti
Effect of NEK1/C9ORF72 double mutation on DNA damage response in neural stem cells and motoneurons derived from Amyotrophic Lateral Sclerosis patient
2021 S. Santangelo, C. Colombrita, P. Bossolasco, S. Peverelli, S. Invernizzi, A. Brusati, V. Gumina, D. Bardelli, N. Ticozzi, V. Silani, A. Ratti
Effect of NEK1/C9ORF72 double mutation on DNA damage response in patient-derived neural stem cells
2021 S. Santangelo, C. Colombrita, P. Bossolasco, S. Peverelli, S. Invernizzi, A. Brusati, V. Gumina, D. Bardelli, N. Ticozzi, V. Silani, A. Ratti
Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis
2021 J.O. Johnson, R. Chia, D.E. Miller, R. Li, R. Kumaran, Y. Abramzon, N. Alahmady, A.E. Renton, S.D. Topp, J.R. Gibbs, M.R. Cookson, M.S. Sabir, C.L. Dalgard, C. Troakes, A.R. Jones, A. Shatunov, A. Iacoangeli, A. Al Khleifat, N. Ticozzi, V. Silani, C. Gellera, I.P. Blair, C. Dobson-Stone, J.B. Kwok, E.S. Bonkowski, R. Palvadeau, P.J. Tienari, K.E. Morrison, P.J. Shaw, A. Al-Chalabi, R.H. Brown, A. Calvo, G. Mora, H. Al-Saif, M. Gotkine, F. Leigh, I.J. Chang, S.J. Perlman, I. Glass, A.I. Scott, C.E. Shaw, A.N. Basak, J.E. Landers, A. Chio, T.O. Crawford, B.N. Smith, B.J. Traynor, B.N. Smith, N. Ticozzi, C. Fallini, A.S. Gkazi, S.D. Topp, E.L. Scotter, K.P. Kenna, P. Keagle, C. Tiloca, C. Vance, C. Troakes, C. Colombrita, A. King, V. Pensato, B. Castellotti, F. Baas, A.L.M.A. Ten Asbroek, D. McKenna-Yasek, R.L. McLaughlin, M. Polak, S. Asress, J. Esteban-Perez, Z. Stevic, S. D'Alfonso, L. Mazzini, G.P. Comi, R. Del Bo, M. Ceroni, S. Gagliardi, G. Querin, C. Bertolin, W. Van Rheenen, R. Rademakers, M. Van Blitterswijk, G. Lauria, S. Duga, S. Corti, C. Cereda, L. Corrado, G. Soraru, K.L. Williams, G.A. Nicholson, I.P. Blair, C. Leblond-Manry, G.A. Rouleau, O. Hardiman, K.E. Morrison, J.H. Veldink, L.H. Van Den Berg, A. Al-Chalabi, H. Pall, P.J. Shaw, M.R. Turner, K. Talbot, F. Taroni, A. Garcia-Redondo, Z. Wu, J.D. Glass, C. Gellera, A. Ratti, R.H. Brown, V. Silani, C.E. Shaw, J.E. Landers, C.L. Dalgard, A. Adeleye, A.R. Soltis, C. Alba, C. Viollet, D. Bacikova, D.N. Hupalo, G. Sukumar, H.B. Pollard, M.D. Wilkerson, E.M. Martinez, Y. Abramzon, S. Ahmed, S. Arepalli, R.H. Baloh, R. Bowser, C.B. Brady, A. Brice, J. Broach, R.H. Campbell, W. Camu, R. Chia, J. Cooper-Knock, J. Ding, C. Drepper, V.E. Drory, T.L. Dunckley, J.D. Eicher, B.K. England, F. Faghri, E. Feldman, M.K. Floeter, P. Fratta, J.T. Geiger, G. Gerhard, J.R. Gibbs, S.B. Gibson, J.D. Glass, J. Hardy, M.B. Harms, T.D. Heiman-Patterson, D.G. Hernandez, L. Jansson, J. Kirby, N.W. Kowall, H. Laaksovirta, N. Landeck, F. Landi, I. Le Ber, S. Lumbroso, D.J.L. Macgowan, N.J. Maragakis, G. Mora, K. Mouzat, N.A. Murphy, L. Myllykangas, M.A. Nalls, R.W. Orrell, L.W. Ostrow, R. Pamphlett, S. Pickering-Brown, E.P. Pioro, O. Pletnikova, H.A. Pliner, S.M. Pulst, J.M. Ravits, A.E. Renton, A. Rivera, W. Robberecht, E. Rogaeva, S. Rollinson, J.D. Rothstein, S.W. Scholz, M. Sendtner, P.J. Shaw, K.C. Sidle, Z. Simmons, A.B. Singleton, N. Smith, D.J. Stone, P.J. Tienari, J.C. Troncoso, M. Valori, P. Van Damme, V.M. Van Deerlin, L. Van Den Bosch, L. Zinman, J.E. Landers, A. Chio, B.J. Traynor, S.M. Angelocola, F.P. Ausiello, M. Barberis, I. Bartolomei, S. Battistini, E. Bersano, G. Bisogni, G. Borghero, M. Brunetti, C. Cabona, A. Calvo, F. Canale, A. Canosa, T.A. Cantisani, M. Capasso, C. Caponnetto, P. Cardinali, P. Carrera, F. Casale, A. Chio, T. Colletti, F.L. Conforti, A. Conte, E. Conti, M. Corbo, S. Cuccu, E. Dalla Bella, E. D'Errico, G. Demarco, R. Dubbioso, C. Ferrarese, P.M. Ferraro, M. Filippi, N. Fini, G. Floris, G. Fuda, S. Gallone, G. Gianferrari, F. Giannini, M. Grassano, L. Greco, B. Iazzolino, A. Introna, V. La Bella, S. Lattante, G. Lauria, R. Liguori, G. Logroscino, F.O. Logullo, C. Lunetta, P. Mandich, J. Mandrioli, U. Manera, F. Manganelli, G. Marangi, K. Marinou, M.G. Marrosu, I. Martinelli, S. Messina, C. Moglia, G. Mora, L. Mosca, M.R. Murru, P. Origone, C. Passaniti, C. Petrelli, A. Petrucci, S. Pozzi, M. Pugliatti, A. Quattrini, C. Ricci, G. Riolo, N. Riva, M. Russo, M. Sabatelli, P. Salamone, M. Salivetto, F. Salvi, M. Santarelli, L. Sbaiz, R. Sideri, I. Simone, C. Simonini, R. Spataro, R. Tanel, G. Tedeschi, A. Ticca, A. Torriello, S. Tranquilli, L. Tremolizzo, F. Trojsi, R. Vasta, V. Vacchiano, G. Vita, P. Volanti, M. Zollino, E. Zucchi
Genetic and epigenetic disease modifiers in an Italian C9orf72 family expressing ALS, FTD or PD clinical phenotypes
2021 A. Ratti, S. Peverelli, E. D'Adda, C. Colombrita, M. Gennuso, A. Prelle, V. Silani
SUMOylation regulates TDP-43 splicing activity and nucleocytoplasmic distribution
2021 A.M. Maraschi, V. Gumina, J. Dragotto, C. Colombrita, M. Mompean, E. Buratti, V. Silani, M. Feligioni, A. Ratti
TDP-43 and NOVA-1 RNA-binding proteins as competitive splicing regulators of the schizophrenia-associated TNIK gene
2019 V. Gumina, C. Colombrita, C. Fallini, P. Bossolasco, A.M. Maraschi, J.E. Landers, V. Silani, A. Ratti
Response to the commentary “The effect of C9orf72 intermediate repeat expansions in neurodegenerative and autoimmune diseases” by Biasiotto G and Zanella I.
2019 C. Tiloca, M. Sorosina, F. Esposito, S. Peroni, C. Colombrita, N. Ticozzi, A. Ratti, F.M. Boneschi, V. Silani
Characterization of the c9orf72 GC-rich low complexity sequence in two cohorts of Italian and Turkish ALS cases
2018 L. Corrado, C. Tiloca, C. Locci, A. Bagarotti, H. Hamzeiy, C. Colombrita, F. De marchi, N. Barizzone, D. Cotella, N. Ticozzi, L. Mazzini, A. Nazli Basak, A. Ratti, V. Silani, S. D’Alfonso
No C9orf72 repeat expansion in patients with primary progressive multiple sclerosis
2018 C. Tiloca, M. Sorosina, F. Esposito, S. Peroni, C. Colombrita, N. Ticozzi, A. Ratti, F. Martinelli Boneschi, V. Silani
A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype
2017 M..T. Bonati, F. Verde, U. Hladnik, P. Cattelan, L. Campana, C. Castronovo, N. Ticozzi, L. Maderna, C. Colombrita, S. Papa, P. Banfi, V. Silani
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
2016 K.P. Kenna, P.T.C. van Doormaal, A.M. Dekker, N. Ticozzi, B.J. Kenna, F.P. Diekstra, W. van Rheenen, K.R. van Eijk, A.R. Jones, P. Keagle, A. Shatunov, W. Sproviero, B.N. Smith, M.A. van Es, S.D. Topp, A. Kenna, J.W. Miller, C. Fallini, C. Tiloca, R.L. Mclaughlin, C. Vance, C. Troakes, C. Colombrita, G. Mora, A. Calvo, F. Verde, S. Al Sarraj, A. King, D. Calini, J. de Belleroche, F. Baas, A.J. van der Kooi, M. de Visser, A.L.M.A. Ten Asbroek, P.C. Sapp, D. McKenna Yasek, M. Polak, S. Asress, J.L. Muñoz Blanco, T.M. Strom, T. Meitinger, K.E. Morrison, G. LAURIA PINTER, K.L. Williams, P.N. Leigh, G.A. Nicholson, I.P. Blair, C.S. Leblond, P.A. Dion, G.A. Rouleau, H. Pall, P.J. Shaw, M.R. Turner, K. Talbot, F. Taroni, K.B. Boylan, M. Van Blitterswijk, R. Rademakers, J. Esteban Pérez, A. García Redondo, P. Van Damme, W. Robberecht, A. Chio, C. Gellera, C. Drepper, M. Sendtner, A. Ratti, J.D. Glass, J.S. Mora, N.A. Basak, O. Hardiman, A.C. Ludolph, P.M. Andersen, J.H. Weishaupt, R.H. Brown, A. Al Chalabi, V. Silani, C.E. Shaw, L.H. van den Berg, J.H. Veldink, J.E. Landers