Sfoglia per Autore
Mutational analysis of VCP gene in familial Amyotrophic Lateral Sclerosis
2012 C. Tiloca, A. Ratti, V. Pensato, A. Castucci, G. Sorarù, R. Del Bo, L. Corrado, C. Cereda, C. D'Ascenzo, G.P. Comi, L. Mazzini, B. Castellotti, N. Ticozzi, C. Gellera, V. Silani
Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients
2012 E.M. Ramos, P. Keagle, T. Gillis, P. Lowe, J.S. Mysore, A.L. Leclerc, A. Ratti, N. Ticozzi, C. Gellera, J.F. Gusella, V. Silani, I. Alonso, R.H. Brown, M.E. Macdonald, J.E. Landers
ATAXIN2 CAG-repeat length in Italians patients with amyotrophic lateral sclerosis : risk factor or variant phenotype? Implication for genetic testing and counseling
2012 C. Gellera, N. Ticozzi, V. Pensato, L. Nanetti, A. Castucci, B. Castellotti, G. Lauria, F. Taroni, V. Silani, C. Mariotti
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
2012 C.H. Wu, C. Fallini, N. Ticozzi, P.J. Keagle, P.C. Sapp, K. Piotrowska, P. Lowe, M. Koppers, D. McKenna Yasek, D.M. Baron, J.E. Kost, P. Gonzalez Perez, A.D. Fox, J. Adams, F. Taroni, C. Tiloca, A.L. Leclerc, S.C. Chafe, D. Mangroo, M.J. Moore, J.A. Zitzewitz, Z.S. Xu, L.H. Van Den Berg, J.D. Glass, G. Siciliano, E.T. Cirulli, D.B. Goldstein, F. Salachas, V. Meininger, W. Rossoll, A. Ratti, C. Gellera, D.A. Bosco, G.J. Bassell, V. Silani, V.E. Drory, R.H. Brown Jr, J.E. Landers
C9ORF72 repeat expansion in a large Italian ALS cohort : evidence of a founder effect
2012 A. Ratti, L. Corrado, B. Castellotti, R. Del Bo, I. Fogh, C. Cereda, C. Tiloca, C. D'Ascenzo, A. Bagarotti, V. Pensato, M. Ranieri, S. Gagliardi, D. Calini, L. Mazzini, F. Taroni, S.P. Corti, M. Ceroni, G.D. Oggioni, K. Lin, J.F. Powell, G. Sorarù, N. Ticozzi, G.P. Comi, S. D'Alfonso, C. Gellera, V. Silani
Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations
2013 N. Ticozzi, C. Tiloca, N.E. Mencacci, C. Morelli, A. Doretti, D. Rusconi, C. Colombrita, D. Sangalli, F. Verde, P. Finelli, S. Messina, A. Ratti, V. Silani
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder
2013 B.N. Smith, S. Newhouse, A. Shatunov, C. Vance, S. Topp, L. Johnson, J. Miller, Y. Lee, C. Troakes, K.M. Scott, A. Jones, I. Gray, J. Wright, T. Hortobágyi, S. Al-Sarraj, B. Rogelj, J. Powell, M. Lupton, S. Lovestone, P.C. Sapp, M. Weber, P.J. Nestor, H.J. Schelhaas, A.A. Asbroek, V. Silani, C. Gellera, F. Taroni, N. Ticozzi, L. Van den Berg, J. Veldink, P. Van Damme, W. Robberecht, P.J. Shaw, J. Kirby, H. Pall, K.E. Morrison, A. Morris, J. de Belleroche, J.M. Vianney de Jong, F. Baas, P.M. Andersen, J. Landers, R.H. Brown, M.E. Weale, A. Al-Chalabi, C.E. Shaw
Ubiquilin 2 mutations in Italians patients with amyotrophic lateral sclerosis and frontotemporal dementia
2013 C. Gellera, C. Tiloca, R. Del Bò, L. Corrado, V. Pensato, J. Agostini, C. Cereda, A. Ratti, B. Castellotti, S. Corti, A. Bagarotti, A. Cagnin, P. Milani, C. Gabelli, G. Riboldi, L. Mazzini, G. Sorarù, S. D'Alfonso, F. Taroni, G.P. Comi, N. Ticozzi, V. Silani
Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia
2013 T. Cinzia, N. Ticozzi, V. Pensato, L. Corrado, R. Del Bo, C. Bertolin, C. Fenoglio, S. Gagliardi, D. Calini, G. Lauria, B. Castellotti, A. Bagarotti, S. Corti, D. Galimberti, A. Cagnin, C. Gabelli, M. Ranieri, M. Ceroni, G. Siciliano, L. Mazzini, C. Cereda, E. Scarpini, G. Sorarù, G.P. Comi, S. D'Alfonso, C. Gellera, A. Ratti, J.E. Landers, V. Silani
Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis
2013 D. Calini, L. Corrado, R. Del Bo, S. Gagliardi, V. Pensato, F. Verde, S. Corti, L. Mazzini, P. Milani, B. Castellotti, C. Bertolin, G. Sorarù, C. Cereda, G.P. Comi, S. D'Alfonso, C. Gellera, N. Ticozzi, J.E. Landers, A. Ratti, V. Silani
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
Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study
2014 P.T. van Doormaal, N. Ticozzi, C. Gellera, A. Ratti, F. Taroni, A. Chiò, A. Calvo, G. Mora, G. Restagno, B.J. Traynor, A. Birve, R. Lemmens, M.A. van Es, C.G. Saris, H.M. Blauw, P.W. van Vught, E.J. Groen, L. Corrado, L. Mazzini, R. Del Bo, S. Corti, S. Waibel, T. Meyer, A.C. Ludolph, A. Goris, P. van Damme, W. Robberecht, A. Shatunov, I. Fogh, P.M. Andersen, S. D'Alfonso, O. Hardiman, S. Cronin, D. Rujescu, A. Al Chalabi, J.E. Landers, V. Silani, L.H. van den Berg, J.H. Veldink
Amyotrophic lateral sclerosis: Genotypes and phenotypes
2014 N. Ticozzi, V. Silani
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis
2014 I. Fogh, A. Ratti, C. Gellera, K. Lin, C. Tiloca, V. Moskvina, L. Corrado, G. Sorarù, C. Cereda, S. Corti, D. Gentilini, D. Calini, B. Castellotti, L. Mazzini, G. Querin, S. Gagliardi, R. Del Bo, F.L. Conforti, G. Siciliano, M. Inghilleri, F. Saccà, P. Bongioanni, S. Penco, M. Corbo, S. Sorbi, M. Filosto, A. Ferlini, A.M. Di Blasio, S. Signorini, A. Shatunov, A. Jones, P.J. Shaw, K.E. Morrison, A.E. Farmer, P. Van Damme, W. Robberecht, A. Chiò, B.J. Traynor, M. Sendtner, J. Melki, V. Meininger, O. Hardiman, P.M. Andersen, N.P. Leigh, J.D. Glass, D. Overste, F.P. Diekstra, J.H. Veldink, M.A. van Es, C.E. Shaw, M.E. Weale, C.M. Lewis, J. Williams, R.H. Brown, J.E. Landers, N. Ticozzi, M. Ceroni, E. Pegoraro, G.P. Comi, S. D'Alfonso, L.H. Van Den Berg, F. Taroni, A. Al Chalabi, J. Powell, V. Silani
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
Novel mutations support a role for Profilin 1 in the pathogenesis of ALS
2015 B.N. Smith, C. Vance, E.L. Scotter, C. Troakes, C.H. Wong, S. Topp, S. Maekawa, A. King, J.C. Mitchell, K. Lund, A. Al-Chalabi, N. Ticozzi, V. Silani, P. Sapp, R.H. Brown, J.E. Landers, S. Al-Sarraj, C.E. Shaw
A review of options for treating sialorrhea in amyotrophic lateral sclerosis
2015 P. Banfi, N. Ticozzi, A. Lax, G.A. Guidugli, A. Nicolini, V. Silani
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
2015 E.T. Cirulli, B.N. Lasseigne, S. Petrovski, P.C. Sapp, P.A. Dion, C.S. Leblond, J. Couthouis, Y.F. Lu, Q. Wang, B.J. Krueger, Z. Ren, J. Keebler, Y. Han, S.E. Levy, B.E. Boone, J.R. Wimbish, L.L. Waite, A.L. Jones, J.P. Carulli, A.G. Day Williams, J.F. Staropoli, W.W. Xin, A. Chesi, A.R. Raphael, D. McKenna Yasek, J. Cady, J.M.B. Vianney de Jong, K.P. Kenna, B.N. Smith, S. Topp, J. Miller, A. Gkazi, F. Sequencing Consortium, A. Chalabi, L.H. van den Berg, J. Veldink, V. Silani, N. Ticozzi, C.E. Shaw, R.H. Baloh, S. Appel, E. Simpson, C. Lagier Tourenne, S.M. Pulst, S. Gibson, J.Q. Trojanowski, L. Elman, L. Cluskey, M. Grossman, N.A. Shneider, W.K. Chung, J.M. Ravits, J.D. Glass, K.B. Sims, V.M. Van Deerlin, T. Maniatis, S.D. Hayes, A. Ordureau, S. Swarup, J. Landers, F. Baas, A.S. Allen, R.S. Bedlack, J.W. Harper, A.D. Gitler, G.A. Rouleau, R. Brown, M.B. Harms, G.M. Cooper, T. Harris, R.M. Myers, D.B. Goldstein
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
CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis
2015 D. Ronchi, G. Riboldi, R. Del Bo, N. Ticozzi, M. Scarlato, D. Galimberti, S. Corti, V. Silani, N. Bresolin, G.P. Comi
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