COLOMBRITA, CLAUDIA
COLOMBRITA, CLAUDIA
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
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
ALS Genes: mutational analysis in a large cohort of Italian patients
2009 C. Gellera, N. Ticozzi, A. Ratti, L. Corrado, B. Castellotti, C. Colombrita, M. Plumari, Y. Carlomagno, C. Bragato, L. Mazzini, F. Taroni, V. Silani
Angiogenin gene mutations in Italian patients with familial and sporadic ALS
2007 N. Ticozzi, C. Gellera, C. Colombrita, B. Castellotti, C. Bragato, A. Ratti, F. Taroni, V. Silani
Angiogenin: a novel candidate gene for ALS pathogenesis in the Italian Population
2007 C. Colombrita, C. Gellera, N. Ticozzi, B. Castelletti, A. Ratti, C. Bragato, F. Taroni, V. Silani
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
C9orf72 repeat expansions are restricted to the ALS-FTD spectrum
2014 N. Ticozzi, C. Tiloca, D. Calini, S. Gagliardi, A. Altieri, C. Colombrita, C. Cereda, A. Ratti, G. Pezzoli, B. Borroni, S. Goldwurm, A. Padovani, 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
Concurrence of SOD1 and ANG mutations in an Italian ALS family
2009 C. Colombrita, C. Gellera, N. Ticozzi, A. Ratti, B. Castellotti, C. Bragato, F. Taroni, V. Silani
Concurrence of SOD1 and ANG Mutations in Italian ALS Family
2009 C. Colombrita, C. Gellera, N. Ticozzi, A. Ratti, B. Castellotti, C. Bragato, F. Taroni, V. Silani
Dendritic targeting of short and long 3' UTR BDNF mRNA is regulated by BDNF or NT-3 and distinct sets of RNA-binding proteins
2015 A. Vicario, A. Colliva, A. Ratti, L. Davidovic, G. Baj, Ł. Gricman, C. Colombrita, A. Pallavicini, K. Jones, B. Bardoni, E. Tongiorgi
ELAV proteins along evolution : back to the nucleus?
2013 C. Colombrita, V. Silani, A. Ratti
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS
2014 B.N. Smith, N. Ticozzi, C. Fallini, A.S. Gkazi, S. Topp, K.P. Kenna, E.L. Scotter, J. Kost, P. Keagle, J.W. Miller, D. Calini, C. Vance, E.W. Danielson, C. Troakes, C. Tiloca, S. Al Sarraj, E.A. Lewis, A. King, C. Colombrita, V. Pensato, B. Castellotti, J. de Belleroche, F. Baas, A. LMA ten Asbroek, P.C. Sapp, D. McKenna Yasek, R.L. Mclaughlin, M. Polak, S. Asress, J. Esteban Pérez, J.L. Muñoz Blanco, M. Simpson, S. D’Alfonso, L. Mazzini, G.P. Comi, R. Del Bo, M. Ceroni, S. Gagliardi, G. Querin, C. Bertolin, W. van Rheenen, F.P. Diekstra, G. Lauria, S. Duga, S. Corti, C. Cereda, L. Corrado, G. Sorarù, K.E. Morrison, K.L. Williams, G.A. Nicholson, I.P. Blair, P.A. Dion, C.S. Leblond, G.A. Rouleau, O. Hardiman, J.H. Veldink, L.H. van den Berg, A. Al Chalabi, H. Pall, P.J. Shaw, M.R. Turner, K. Talbot, F. Taroni, A. García Redondo, Z. Wu, J.D. Glass, C. Gellera, A. Ratti, R.H. Brown, V. Silani, C.E. Shaw, J.E. Landers
From transcriptomic to protein level changes in TDP-43 and FUS loss-of-function cell models
2015 C. Colombrita, E. Onesto, E. Buratti, P. de la Grange, V. Gumina, F.E. Baralle, V. Silani, A. Ratti
Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts
2016 E. Onesto, C. Colombrita, V. Gumina, M.O. Borghi, S. Dusi, A. Doretti, G. Fagiolari, F. Invernizzi, M. Moggio, V. Tiranti, V. Silani, A. Ratti
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
Genetics of Familial Amyotrophic Lateral Sclerosis
2011 N. Ticozzi, C. Tiloca, C. Morelli, C. Colombrita, B. Poletti, A. Doretti, L. Maderna, S. Messina, A. Ratti, V. Silani
hnRNPA2/B1 and nELAV proteins bind to a specific U-rich element in CDK5R1 3'-UTR and oppositely regulate its expression
2014 P. Zuccotti, C. Colombrita, S. Moncini, A. Barbieri, M. Lunghi, C. Gelfi, S. De Palma, A. Nicolin, A. Ratti, M. Venturin, P. Riva
Identification and functional characterization of trans-acting factors involved in the post-transcriptional regulation of CDK5R1
2012 P. Zuccotti, A. Barbieri, C. Colombrita, S. De Palma, S. Moncini, C. Gelfi, A. Ratti, M. Venturin, P. Riva
Identification of Angiogenin gene mutations in a large cohort of Italian ALS patients
2007 C. Colombrita, C. Gellera, N. Ticozzi, B. Castellotti, A. Ratti, C. Bragato, F. Taroni, V. Silani
Identification of new ANG gene mutations in a large cohort of Italian patients with Amyotrophic Lateral Sclerosis
2008 C. Gellera, C. Colombrita, N. Ticozzi, B. Castellotti, C. Bragato, A. Ratti, F. Taroni, V. Silani