TILOCA, CINZIA
TILOCA, CINZIA
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
Exploring epigenetic drift and rare epivariations in amyotrophic lateral sclerosis by epigenome-wide association study
2023 A. Brusati, S. Peverelli, L. Calzari, C. Tiloca, V. Casiraghi, M.N. Sorce, S. Invernizzi, E. Carbone, R. Cavagnola, F. Verde, V. Silani, N. Ticozzi, A. Ratti, D. Gentilini
Coexistence of Amyotrophic Lateral Sclerosis and Alzheimer’s Disease: Case Report and Review of the Literature
2023 F. Verde, E.N. Aiello, L. Adobbati, B. Poletti, F. Solca, C. Tiloca, D. Sangalli, A. Maranzano, C. Muscio, A. Ratti, S. Zago, N. Ticozzi, G.B. Frisoni, V. Silani
TARDBP mutations in a cohort of Italian patients with Parkinson’s disease and atypical parkinsonisms
2022 C. Tiloca, S. Goldwurm, N. Calcagno, F. Verde, S. Peverelli, D. Calini, A.L. Zecchinelli, D. Sangalli, A. Ratti, G. Pezzoli, V. Silani, N. Ticozzi
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
PON1 is a disease modifier gene in amyotrophic lateral sclerosis : association of the Q192R polymorphism with bulbar onset and reduced survival
2019 F. Verde, C. Tiloca, C. Morelli, A. Doretti, B. Poletti, L. Maderna, S. Messina, D. Gentilini, I. Fogh, A. Ratti, V. Silani, N. Ticozzi
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
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function
2018 M. de Majo, S.D. Topp, B.N. Smith, A.L. Nishimura, H. Chen, A.S. Gkazi, J. Miller, C.H. Wong, C. Vance, F. Baas, A.L.M.A. ten Asbroek, K.P. Kenna, N. Ticozzi, A.G. Redondo, J. Esteban-Pérez, C. Tiloca, F. Verde, S. Duga, K.E. Morrison, P.J. Shaw, J. Kirby, M.R. Turner, K. Talbot, O. Hardiman, J.D. Glass, J. de Belleroche, C. Gellera, A. Ratti, A. Al-Chalabi, R.H. Brown, V. Silani, J.E. Landers, C.E. Shaw
The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1
2018 M. Perez Carrion, F. Pischedda, A. Biosa, I. Russo, L. Straniero, L. Civiero, M. Guida, C.J. Gloeckner, N. Ticozzi, C. Tiloca, C. Mariani, G. Pezzoli, S. Duga, I. Pichler, L. Pan, J.E. Landers, E. Greggio, M.W. Hess, S. Goldwurm, G. Piccoli
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
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
2018 A. Nicolas, K.P. Kenna, A.E. Renton, N. Ticozzi, F. Faghri, R. Chia, J.A. Dominov, B.J. Kenna, M.A. Nalls, P. Keagle, A.M. Rivera, W. van Rheenen, N.A. Murphy, J.J.F.A. van Vugt, J.T. Geiger, R.A. Van der Spek, H.A. Pliner, N. Shankaracharya, B.N. Smith, G. Marangi, S.D. Topp, Y. Abramzon, A.S. Gkazi, J.D. Eicher, A. Kenna, G. Mora, A. Calvo, L. Mazzini, N. Riva, J. Mandrioli, C. Caponnetto, S. Battistini, P. Volanti, V. La Bella, F.L. Conforti, G. Borghero, S. Messina, I.L. Simone, F. Trojsi, F. Salvi, F.O. Logullo, S. D'Alfonso, L. Corrado, M. Capasso, L. Ferrucci, C.D.A.M. Moreno, S. Kamalakaran, D.B. Goldstein, A.D. Gitler, T. Harris, R.M. Myers, H. Phatnani, R.L. Musunuri, U.S. Evani, A. Abhyankar, M.C. Zody, J. Kaye, S. Finkbeiner, S.K. Wyman, A. Lenail, L. Lima, E. Fraenkel, C.N. Svendsen, L.M. Thompson, J.E. Van Eyk, J.D. Berry, T.M. Miller, S.J. Kolb, M. Cudkowicz, E. Baxi, M. Benatar, J.P. Taylor, E. Rampersaud, G. Wu, J. Wuu, G. Lauria, F. Verde, I. Fogh, C. Tiloca, G.P. Comi, G. Sorarù, C. Cereda, P. Corcia, H. Laaksovirta, L. Myllykangas, L. Jansson, M. Valori, J. Ealing, H. Hamdalla, S. Rollinson, S. Pickering-Brown, R.W. Orrell, K.C. Sidle, A. Malaspina, J. Hardy, A.B. Singleton, J.O. Johnson, S. Arepalli, P.C. Sapp, D. McKenna-Yasek, M. Polak, S. Asress, S. Al-Sarraj, A. King, C. Troakes, C. Vance, J. de Belleroche, F. Baas, A.L.M.A. Ten Asbroek, J.L. Muñoz-Blanco, D.G. Hernandez, J. Ding, J.R. Gibbs, S.W. Scholz, M.K. Floeter, R.H. Campbell, F. Landi, R. Bowser, S.M. Pulst, J.M. Ravits, D.J.L. Macgowan, J. Kirby, E.P. Pioro, R. Pamphlett, J. Broach, G. Gerhard, T.L. Dunckley, C.B. Brady, N.W. Kowall, J.C. Troncoso, I. Le Ber, K. Mouzat, S. Lumbroso, T.D. Heiman-Patterson, F. Kamel, L. Van Den Bosch, R.H. Baloh, T.M. Strom, T. Meitinger, A. Shatunov, K.R. Van Eijk, M. de Carvalho, M. Kooyman, B. Middelkoop, M. Moisse, R.L. Mclaughlin, M.A. Van Es, M. Weber, K.B. Boylan, M. Van Blitterswijk, R. Rademakers, K.E. Morrison, A.N. Basak, J.S. Mora, V.E. Drory, P.J. Shaw, M.R. Turner, K. Talbot, O. Hardiman, K.L. Williams, J.A. Fifita, G.A. Nicholson, I.P. Blair, G.A. Rouleau, J. Esteban-Pérez, A. García-Redondo, A. Al-Chalabi, E. Rogaeva, L. Zinman, L.W. Ostrow, N.J. Maragakis, J.D. Rothstein, Z. Simmons, J. Cooper-Knock, A. Brice, S.A. Goutman, E.L. Feldman, S.B. Gibson, F. Taroni, A. Ratti, C. Gellera, P. Van Damme, W. Robberecht, P. Fratta, M. Sabatelli, C. Lunetta, A.C. Ludolph, P.M. Andersen, J.H. Weishaupt, W. Camu, J.Q. Trojanowski, V.M. Van Deerlin, R.H. Brown, L.H. van den Berg, J.H. Veldink, M.B. Harms, J.D. Glass, D.J. Stone, P. Tienari, V. Silani, A. Chiò, C.E. Shaw, B.J. Traynor, J.E. Landers
Elevated global DNA methylation is not exclusive to amyotrophic lateral sclerosis and is also observed in spinocerebellar ataxia types 1 and 2
2018 H. Hamzeiy, D. Savaş, C. Tunca, N.E. Şen, A. Gündoğdu Eken, I. Şahbaz, D. Calini, C. Tiloca, N. Ticozzi, A. Ratti, V. Silani, A.N. Başak
Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis
2017 K. Tripolszki, B. Csányi, D. Nagy, A. Ratti, C. Tiloca, V. Silani, É. Kereszty, N. Török, L. Vécsei, J.I. Engelhardt, P. Klivényi, N. Nagy, M. Széll
Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis
2017 T.F. Gendron, J. Chew, J.N. Stankowski, L.R. Hayes, Y. Zhang, M. Prudencio, Y. Carlomagno, L.M. Daughrity, K. Jansen-West, E.A. Perkerson, A. O'Raw, C. Cook, L. Pregent, V. Belzil, M. van Blitterswijk, L.J. Tabassian, C.W. Lee, M. Yue, J. Tong, Y. Song, M. Castanedes-Casey, L. Rousseau, V. Phillips, D.W. Dickson, R. Rademakers, J.D. Fryer, B.K. Rush, O. Pedraza, A.M. Caputo, P. Desaro, C. Palmucci, A. Robertson, M.G. Heckman, N.N. Diehl, E. Wiggs, M. Tierney, L. Braun, J. Farren, D. Lacomis, S. Ladha, C.N. Fournier, L.F. Mccluskey, L.B. Elman, J.B. Toledo, J.D. Mcbride, C. Tiloca, C. Morelli, B. Poletti, F. Solca, A. Prelle, J. Wuu, J. Jockel-Balsarotti, F. Rigo, C. Ambrose, A. Datta, W. Yang, D. Raitcheva, G. Antognetti, A. Mccampbell, J.C. Van Swieten, B.L. Miller, A.L. Boxer, R.H. Brown, R. Bowser, T.M. Miller, J.Q. Trojanowski, M. Grossman, J.D. Berry, W.T. Hu, A. Ratti, B.J. Traynor, M.D. Disney, M. Benatar, V. Silani, J.D. Glass, M.K. Floeter, J.D. Rothstein, K.B. Boylan, L. Petrucelli
Mutations in the vesicular trafficking protein Annexin A11 are associated with amyotrophic lateral sclerosis
2017 B.N. Smith, S.D. Topp, C. Fallini, H. Shibata, H. Chen, C. Troakes, A. King, N. Ticozzi, K.P. Kenna, A. Soragia Gkazi, J.W. Miller, A. Sato, D.M. Dias, M. Jeon, C. Vance, C.H. Wong, M. De Majo, W. Kattuah, J.C. Mitchell, E.L. Scotter, N.W. Parkin, P.C. Sapp, M. Nolan, P.J. Nestor, M. Simpson, M. Weale, M. Lek, F. Baas, J.M.V. De Jong, A.L.M.A. Ten Asbroek, A.G. Redondo, J. Esteban Pérez, C. Tiloca, F. Verde, S. Duga, N. Leigh, H. Pall, K.E. Morrison, A. Al Chalabi, P.J. Shaw, J. Kirby, M.R. Turner, K. Talbot, O. Hardiman, J.D. Glass, J. De Belleroche, M. Maki, S.E. Moss, C. Miller, C. Gellera, A. Ratti, S. Al Sarraj, R.H. Brown, V. Silani, J.E. Landers, C.E. Shaw
Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis
2016 I. Fogh, K. Lin, C. Tiloca, J. Rooney, C. Gellera, F.P. Diekstra, A. Ratti, A. Shatunov, M.A. van Es, P. Proitsi, A. Jones, W. Sproviero, A. Chiò, R.L. Mclaughlin, G. Sorarù, L. Corrado, D. Stahl, R. Del Bo, C. Cereda, B. Castellotti, J.D. Glass, S. Newhouse, R. Dobson, B.N. Smith, S. Topp, W. van Rheenen, V. Meininger, J. Melki, K.E. Morrison, P.J. Shaw, P.N. Leigh, P.M. Andersen, G.P. Comi, N. Ticozzi, L. Mazzini, S. D'Alfonso, B.J. Traynor, P. Van Damme, W. Robberecht, R.H. Brown, J.E. Landers, O. Hardiman, C.M. Lewis, L.H. van den Berg, C.E. Shaw, J.H. Veldink, V. Silani, A. Al Chalabi, J. Powell
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
2016 W. van Rheenen, A. Shatunov, A.M. Dekker, R.L. Mclaughlin, F.P. Diekstra, S.L. Pulit, R.A.A. van der Spek, U. Võsa, S. de Jong, M.R. Robinson, J. Yang, I. Fogh, P.T. van Doormaal, G.H.P. Tazelaar, M. Koppers, A.M. Blokhuis, W. Sproviero, A.R. Jones, K.P. Kenna, K.R. van Eijk, O. Harschnitz, R.D. Schellevis, W.J. Brands, J. Medic, A. Menelaou, A. Vajda, N. Ticozzi, K. Lin, B. Rogelj, K. Vrabec, M. Ravnik-Glavač, B. Koritnik, J. Zidar, L. Leonardis, L.D. Grošelj, S. Millecamps, F. Salachas, V. Meininger, M. de Carvalho, S. Pinto, J.S. Mora, R. Rojas-García, M. Polak, S. Chandran, S. Colville, R. Swingler, K.E. Morrison, P.J. Shaw, J. Hardy, R.W. Orrell, A. Pittman, K. Sidle, P. Fratta, A. Malaspina, S. Topp, S. Petri, S. Abdulla, C. Drepper, M. Sendtner, T. Meyer, R.A. Ophoff, K.A. Staats, M. Wiedau-Pazos, C. Lomen-Hoerth, V.M. Van Deerlin, J.Q. Trojanowski, L. Elman, L. Mccluskey, A.N. Basak, C. Tunca, H. Hamzeiy, Y. Parman, T. Meitinger, P. Lichtner, M. Radivojkov-Blagojevic, C.R. Andres, C. Maurel, G. Bensimon, B. Landwehrmeyer, A. Brice, C.A.M. Payan, S. Saker-Delye, A. Dürr, N.W. Wood, L. Tittmann, W. Lieb, A. Franke, M. Rietschel, S. Cichon, M.M. Nöthen, P. Amouyel, C. Tzourio, J. Dartigues, A.G. Uitterlinden, F. Rivadeneira, K. Estrada, A. Hofman, C. Curtis, H.M. Blauw, A.J. van der Kooi, M. de Visser, A. Goris, M. Weber, C.E. Shaw, B.N. Smith, O. Pansarasa, C. Cereda, R. Del Bo, G.P. Comi, S. D'Alfonso, C. Bertolin, G. Sorarù, L. Mazzini, V. Pensato, C. Gellera, C. Tiloca, A. Ratti, A. Calvo, C. Moglia, M. Brunetti, S. Arcuti, R. Capozzo, C. Zecca, C. Lunetta, S. Penco, N. Riva, A. Padovani, M. Filosto, B. Muller, R.J. Stuit, I. Blair, K. Zhang, E.P. Mccann, J.A. Fifita, G.A. Nicholson, D.B. Rowe, R. Pamphlett, M.C. Kiernan, J. Grosskreutz, O.W. Witte, T. Ringer, T. Prell, B. Stubendorff, I. Kurth, C.A. Hübner, P.N. Leigh, F. Casale, A. Chio, E. Beghi, E. Pupillo, R. Tortelli, G. Logroscino, J. Powell, A.C. Ludolph, J.H. Weishaupt, W. Robberecht, P. Van Damme, L. Franke, T.H. Pers, R.H. Brown, J.D. Glass, J.E. Landers, O. Hardiman, P.M. Andersen, P. Corcia, P. Vourc'H, V. Silani, N.R. Wray, P.M. Visscher, P.I.W. de Bakker, M.A. van Es, R.J. Pasterkamp, C.M. Lewis, G. Breen, A. Al-Chalabi, L.H. van den Berg, J.H. Veldink
The validation of the Italian Edinburgh cognitive and behavioural ALS screen (ECAS)
2016 B. Poletti, F. Solca, L. Carelli, F. Madotto, A. Lafronza, A. Faini, A. Monti, S. Zago, D. Calini, C. Tiloca, A. Doretti, F. Verde, A. Ratti, N. Ticozzi, S. Abrahams, 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
TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis : identification of novel mutations
2015 V. Pensato, C. Tiloca, L. Corrado, C. Bertolin, V. Sardone, R. DEL BO, D. Calini, J. Mandrioli, G. LAURIA PINTER, L. Mazzini, G. Querin, M. Ceroni, R. Cantello, S.P. Corti, B. Castellotti, G.M.E.A. Solda', S. Duga, G.P. Comi, C. Cereda, G. Sorarù, S. D'Alfonso, F. Taroni, C.E. Shaw, J.E. Landers, N. Ticozzi, A. Ratti, C. Gellera, V. Silani