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TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations 1-gen-2015 Pensato, V; Tiloca, C; Corrado, L; Bertolin, C; Sardone, V; Del Bo, R; Calini, D; Mandrioli, J; Lauria, G; Mazzini, L; Querin, G; Ceroni, M; Cantello, Roberto; Corti, S; Castellotti, B; Soldà, G; Duga, S; Comi, Gp; Cereda, C; Sorarù, G; D'Alfonso, Sandra; Taroni, F; Shaw, Ce; Landers, Je; Ticozzi, N; Ratti, A; Gellera, C; Silani, V; SLAGEN C. o. n. s. o. r. t. i. u. m. Pensato V, Tiloca C; Cantello, R; Corti S, Castellotti B; D'Alfonso, S; Taroni F, Shaw CE; Slagen, Consortium
Chitotriosidase and lysosomal enzymes as potential biomarkers of disease progression in amyotrophic lateral sclerosis: a survey clinic-based study. 1-gen-2015 Pagliardini, V; Pagliardini, S; Corrado, Lucia; Lucenti, A; Panigati, L; Bersano, E; Servo, S; Cantello, Roberto; D'Alfonso, Sandra; Mazzini, L.
ATXN2 polyQ intermediate repeats are a modifier of ALS survival. 1-gen-2015 Chiò, A; Calvo, A; Moglia, C; Canosa, A; Brunetti, M; Barberis, M; Restagno, G; Conte, A; Bisogni, G; Marangi, G; Moncada, A; Lattante, S; Zollino, M; Sabatelli, M; Bagarotti, A; Corrado, Lucia; Mora, G; Bersano, E; Mazzini, L; D'Alfonso, Sandra; Parals, ; Chiò, A; Cammarosano, S; Canosa, A; Cocito, D; Lopiano, L; Durelli, L; Ferrero, B; Bertolotto, A; Mauro, A; Pradotto, L; Mazzini, L; Cantello, Roberto; Bersano, E; Nasuelli, N; Giobbe, D; Gionco, M; Sosso, L; Leotta, D; Appendino, L; Cavallo, R; Odddenino, E; Geda, C; Poglio, F; di Cortemiglia, El; Santimaria, P; Massazza, U; Villani, A; Conti, R; Pisano, F; Palermo, M; Ursino, E; Vergnano, F; Sassone, O; Provera, P; Penza, Mt; Aguggia, M; Di Vito, N; Meineri, P; Pastore, I; Ghiglione, P; Seliak, D; Launaro, N; Cavestro, C; Astegiano, G; Corso, G; Bottacchi, E.
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways 1-gen-2015 Cirulli, Elizabeth T; Lasseigne, Brittany N; Petrovski, Slavé; Sapp, Peter C; Dion, Patrick A; Leblond, Claire S; Couthouis, Julien; Lu, Yi Fan; Wang, Quanli; Krueger, Brian J; Ren, Zhong; Keebler, Jonathan; Han, Yujun; Levy, Shawn E; Boone, Braden E; Wimbish, Jack R; Waite, Lindsay L; Jones, Angela L; Carulli, John P; Day Williams, Aaron G; Staropoli, John F; Xin, Winnie W; Chesi, Alessandra; Raphael, Alya R; McKenna Yasek, Diane; Cady, Janet; Vianney de Jong, J. M. B; Kenna, Kevin P; Smith, Bradley N; Topp, Simon; Miller, Jack; Gkazi, Athina; Al Chalabi, Ammar; van den Berg, Leonard H; Veldink, Jan; Silani, Vincenzo; Ticozzi, Nicola; Shaw, Christopher E; Baloh, Robert H; Appel, Stanley; Simpson, Ericka; Lagier Tourenne, Clotilde; Pulst, Stefan M; Gibson, Summer; Trojanowski, John Q; Elman, Lauren; Mccluskey, Leo; Grossman, Murray; Shneider, Neil A; Chung, Wendy K; Ravits, John M; Glass, Jonathan D; Sims, Katherine B; Van Deerlin, Vivianna M; Maniatis, Tom; Hayes, Sebastian D; Ordureau, Alban; Swarup, Sharan; Landers, John; Baas, Frank; Allen, Andrew S; Bedlack, Richard S; Harper, J. Wade; Gitler, Aaron D; Rouleau, Guy A; Brown, Robert; Harms, Matthew B; Cooper, Gregory M; Harris, Tim; Myers, Richard M; Goldstein, David B; Sapp, Pc; Leblond, Cs; McKenna Yasek, D; Kenna, Kp; Smith, Bn; Topp, S; Miller, J; Gkazi, A; Al Chalabi, A; van den Berg, Lh; Veldink, J; Silani, V; Ticozzi, N; Landers, J; Baas, F; Shaw, Ce; Glass, Jd; Rouleau, Ga; Brown, R; Hardiman, O; Mclaughlin, Rl; Mazzini, L; Blair, Ip; Williams, Kl; Nicholson, Ga; Al Sarraj, S; King, A; Scotter, El; Topp, S; Troakes, C; Vance, C; D'Alfonso, Sandra; Duga, S; Corrado, Lucia; ten Asbroek, Al; Calini, D; Colombrita, C; Ratti, A; Tiloca, C; Wu, Z; Asress, S; Polak, M; Diekstra, F; van Rheenen, W; Danielson, Ew; Fallini, C; Keagle, P; Lewis, Ea; Kost, J; Sorarù, G; Bertolin, C; Querin, G; Castellotti, B; Gellera, C; Pensato, V; Taroni, F; Cereda, C; Gagliardi, S; Ceroni, M; Lauria, G; de Belleroche, J; Comi, Gp; Corti, S; Del, Bo; R, ; Turner, Mr; Talbot, K; Pall, H; Morrison, Ke; Shaw, Pj; Esteban Pérez, J; García Redondo, A; Muñoz Blanco, Jl
The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease 1-gen-2015 Lill, Cm; Rengmark, A; Pihlstrøm, L; Fogh, I; Shatunov, A; Sleiman, Pm; Wang, Ls; Liu, T; Lassen, Cf; Meissner, E; Alexopoulos, P; Calvo, A; Chio, A; Dizdar, N; Faltraco, F; Forsgren, L; Kirchheiner, J; Kurz, A; Larsen, Jp; Liebsch, M; Linder, J; Morrison, Ke; Nissbrandt, H; Otto, M; Pahnke, J; Partch, A; Restagno, G; Rujescu, D; Schnack, C; Shaw, Ce; Shaw, Pj; Tumani, H; Tysnes, Ob; Valladares, O; Silani, V; van den Berg, Lh; van Rheenen, W; Veldink, Jh; Lindenberger, U; Steinhagen Thiessen, E; Slagen, Consortium; Gagliardi, S; Castellotti, B; Corrado, Lucia; D'Alfonso, Sandra; Ratti, A; Tiloca, C; Sorarù, G; Cereda, C; Comi, G; Del Bo, R; Gellera, C; Teipel, S; Perneczky, R; Hakonarson, H; Hampel, H; von Arnim, Ca; Olsen, Jh; Van Deerlin, Vm; Al Chalabi, A; Toft, M; Ritz, B; Bertram, L.
Coeliac disease mimicking Amyotrophic Lateral Sclerosis. 1-gen-2015 Bersano, E; Stecco, A; D'Alfonso, S; Corrado, L; Sarnelli, Mf; Solara, V; Cantello, R; Mazzini, L
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis 1-gen-2014 Fogh, I; Ratti, A; Gellera, C; Lin, K; Tiloca, C; Moskvina, V; Corrado, Lucia; Sorarù, G; Cereda, C; Corti, S; Gentilini, D; Calini, D; Castellotti, B; Mazzini, L; Querin, G; Gagliardi, S; Del Bo, R; Conforti, Fl; Siciliano, G; Inghilleri, M; Saccà, F; Bongioanni, P; Penco, S; Corbo, M; Sorbi, S; Filosto, M; Ferlini, A; Di Blasio, Am; Signorini, S; Shatunov, A; Jones, A; Shaw, Pj; Morrison, Ke; Farmer, Ae; Van Damme, P; Robberecht, W; Chiò, A; Traynor, Bj; Sendtner, M; Melki, J; Meininger, V; Hardiman, O; Andersen, Pm; Leigh, Np; Glass, Jd; Overste, D; Diekstra, Fp; Veldink, Jh; van Es, Ma; Shaw, Ce; Weale, Me; Lewis, Cm; Williams, J; Brown, Rh; Landers, Je; Ticozzi, N; Ceroni, M; Pegoraro, E; Comi, Gp; D'Alfonso, Sandra; van den Berg, Lh; Taroni, F; Al Chalabi, A; Powell, J; Silani, V; the SLAGEN, Consortium; Collaborators,
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS 1-gen-2014 Smith, Bradley N.; Ticozzi, Nicola; Fallini, Claudia; Gkazi, Athina Soragia; Topp, Simon; Kenna, Kevin P.; Scotter, Emma L.; Kost, Jason; Keagle, Pamela; Miller, Jack W.; Calini, Daniela; Vance, Caroline; Danielson, Eric W.; Troakes, Claire; Tiloca, Cinzia; Al-Sarraj, Safa; Lewis, Elizabeth A.; King, Andrew; Colombrita, Claudia; Pensato, Viviana; Castellotti, Barbara; de Belleroche, Jacqueline; Baas, Frank; ten Asbroek, Anneloor L. M. A.; Sapp, Peter C.; McKenna-Yasek, Diane; Mclaughlin, Russell L.; Polak, Meraida; Asress, Seneshaw; Esteban-Pérez, Jesús; Muñoz-Blanco, Joséluis; Simpson, Michael; van Rheenen, Wouter; Diekstra, Frank P.; Lauria, Giuseppe; Duga, Stefano; Corti, Stefania; Cereda, Cristina; Corrado, Lucia; Sorarù, Gianni; Morrison, Karen E.; Williams, Kelly L.; Nicholson, Garth A.; Blair, Ian P.; Dion, Patrick A.; Leblond, Claire S.; Rouleau, Guy A.; Hardiman, Orla; Veldink, Jan H.; Van Den Berg, Leonard H.; Al-Chalabi, Ammar; Pall, Hardev; Shaw, Pamela J.; Turner, Martin R.; Talbot, Kevin; Taroni, Franco; García-Redondo, Alberto; Wu, Zheyang; Glass, Jonathan D.; Gellera, Cinzia; Ratti, Antonia; Brown, Robert H.; Silani, Vincenzo; Shaw, Christopher E.; Landers, John E. Send mail to Landers J. E.; D’Alfonso, Sandra; Mazzini, Letizia; Comi, Giacomo P.; Del Bo, Roberto; Ceroni, Mauro; Gagliardi, Stella; Querin, Giorgia; Bertolin, Cinzia
Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study 1-gen-2014 van Doormaal, Perry T. C.; Ticozzi, Nicola; Gellera, Cinzia; Ratti, Antonia; Taroni, Franco; Chiò, Adriano; Calvo, Andrea; Mora, Gabriele; Restagno, Gabriella; Traynor, Bryan J.; Birve, Anna; Lemmens, Robin; van Es, Michael A.; Saris, Christiaan G. J.; Blauw, Hylke M.; van Vught, Paul W. J.; Groen, Ewout J. N.; Corrado, Lucia; Mazzini, Letizia; Del Bo, Roberto; Corti, Stefania; Waibel, Stefan; Meyer, Thomas; Ludolph, Albert C.; Goris, An; van Damme, Philip; Robberecht, Wim; Shatunov, Aleksey; Fogh, Isabella; Andersen, Peter M.; D'Alfonso, Sandra; Hardiman, Orla; Cronin, Simon; Rujescu, Dan; Al-Chalabi, Ammar; Landers, John E.; Silani, Vincenzo; van den Berg, Leonard H.; Veldink, Jan H.
Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia. 1-gen-2013 Tiloca, C; Ticozzi, N; Pensato, V; Corrado, Lucia; Del Bo, R; Bertolin, C; Fenoglio, C; Gagliardi, S; Calini, D; Lauria, G; Castellotti, B; Bagarotti, A; Corti, S; Galimberti, D; Cagnin, A; Gabelli, C; Ranieri, M; Ceroni, M; Siciliano, G; Mazzini, L; Cereda, C; Scarpini, E; Sorarù, G; Comi, Gp; D'Alfonso, Sandra; Gellera, C; Ratti, A; Landers, Je; Silani, V; Slagen, Consortium
Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia. 1-gen-2013 Gellera, C; Tiloca, C; Del Bo, R; Corrado, Lucia; Pensato, V; Agostini, J; Cereda, C; Ratti, A; Castellotti, B; Corti, S; Bagarotti, A; Cagnin, A; Milani, P; Gabelli, C; Riboldi, G; Mazzini, L; Sorarù, G; D'Alfonso, Sandra; Taroni, F; Comi, Gp; Ticozzi, N; Silani, V; Slagen, Consortium
Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis 1-gen-2013 Calini, D; Corrado, Lucia; Del Bo, R; Gagliardi, S; Pensato, V; Verde, F; Corti, S; Mazzini, L; Milani, P; Castellotti, B; Bertolin, C; Sorarù, G; Cereda, C; Comi, Gp; D'Alfonso, Sandra; Gellera, C; Ticozzi, N; Landers, Je; Ratti, A; Silani, V; Slagen, Consortium
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis 1-gen-2013 International Multiple Sclerosis Genetics, Consortium; Beecham, Ah; Patsopoulos, Na; Xifara, Dk; Davis, Mf; Kemppinen, A; Cotsapas, C; Shah, Ts; Spencer, C; Booth, D; Goris, A; Oturai, A; Saarela, J; Fontaine, B; Hemmer, B; Martin, C; Zipp, F; D'Alfonso, Sandra; Martinelli Boneschi, F; Taylor, B; Harbo, Hf; Kockum, I; Hillert, J; Olsson, T; Ban, M; Oksenberg, Jr; Hintzen, R; Barcellos, Lf; Wellcome Trust Case Control Consortium, 2; International IBD Genetics, Consortium; Agliardi, C; Alfredsson, L; Alizadeh, M; Anderson, C; Andrews, R; Søndergaard, Hb; Baker, A; Band, G; Baranzini, Se; Barizzone, Nadia; Barrett, J; Bellenguez, C; Bergamaschi, L; Bernardinelli, L; Berthele, A; Biberacher, V; Binder, Tm; Blackburn, H; Bomfim, Il; Brambilla, P; Broadley, S; Brochet, B; Brundin, L; Buck, D; Butzkueven, H; Caillier, Sj; Camu, W; Carpentier, W; Cavalla, P; Celius, Eg; Coman, I; Comi, G; Corrado, Lucia; Cosemans, L; Cournu Rebeix, I; Cree, Ba; Cusi, D; Damotte, V; Defer, G; Delgado, Sr; Deloukas, P; di Sapio, A; Dilthey, At; Donnelly, P; Dubois, B; Duddy, M; Edkins, S; Elovaara, I; Esposito, F; Evangelou, N; Fiddes, B; Field, J; Franke, A; Freeman, C; Frohlich, Iy; Galimberti, D; Gieger, C; Gourraud, Pa; Graetz, C; Graham, A; Grummel, V; Guaschino, C; Hadjixenofontos, A; Hakonarson, H; Halfpenny, C; Hall, G; Hall, P; Hamsten, A; Harley, J; Harrower, T; Hawkins, C; Hellenthal, G; Hillier, C; Hobart, J; Hoshi, M; Hunt, Se; Jagodic, M; Jelčić, I; Jochim, A; Kendall, B; Kermode, A; Kilpatrick, T; Koivisto, K; Konidari, I; Korn, T; Kronsbein, H; Langford, C; Larsson, M; Lathrop, M; Lebrun Frenay, C; Lechner Scott, J; Lee, Mh; Leone, Ma; Leppä, V; Liberatore, G; Lie, Ba; Lill, Cm; Lindén, M; Link, J; Luessi, F; Lycke, J; Macciardi, F; Männistö, S; Manrique, Cp; Martin, R; Martinelli, V; Mason, D; Mazibrada, G; Mccabe, C; Mero, Il; Mescheriakova, J; Moutsianas, L; Myhr, Km; Nagels, G; Nicholas, R; Nilsson, P; Piehl, F; Pirinen, M; Price, Se; Quach, H; Reunanen, M; Robberecht, W; Robertson, Np; Rodegher, M; Rog, D; Salvetti, M; Schnetz Boutaud, Nc; Sellebjerg, F; Selter, Rc; Schaefer, C; Shaunak, S; Shen, L; Shields, S; Siffrin, V; Slee, M; Sorensen, Ps; Sorosina, M; Sospedra, M; Spurkland, A; Strange, A; Sundqvist, E; Thijs, V; Thorpe, J; Ticca, A; Tienari, P; van Duijn, C; Visser, Em; Vucic, S; Westerlind, H; Wiley, Js; Wilkins, A; Wilson, Jf; Winkelmann, J; Zajicek, J; Zindler, E; Haines, Jl; Pericak Vance, Ma; Ivinson, Aj; Stewart, G; Hafler, D; Hauser, Sl; Compston, A; Mcvean, G; De Jager, P; Sawcer, Sj; Mccauley, J. L.
Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis 1-gen-2012 Tiloca, C; Ratti, A; Pensato, V; Castucci, A; Soraru, G; Del Bo, R; Corrado, Lucia; Cereda, C; D'Ascenzo, C; Comi, Gp; Mazzini, L; Castellotti, B; Ticozzi, N; Gellera, C; Silani, V.
C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect. 1-gen-2012 Ratti, A; Corrado, Lucia; Castellotti, B; Del Bo, R; Fogh, I; Cereda, C; Tiloca, C; D'Ascenzo, C; Bagarotti, A; Pensato, V; Ranieri, M; Gagliardi, S; Calini, D; Mazzini, L; Taroni, F; Corti, S; Ceroni, M; Oggioni, Gd; Lin, K; Powell, Jf; Sorarù, G; Ticozzi, N; Comi, Gp; D'Alfonso, Sandra; Gellera, C; Silani, V; Slagen, Consortium
Extensive genetics of ALS: a population-based study in Italy. 1-gen-2012 Chiò, A; Calvo, A; Mazzini, L; Cantello, Roberto; Mora, G; Moglia, C; Corrado, Lucia; D'Alfonso, Sandra; Majounie, E; Renton, A; Pisano, F; Ossola, I; Brunetti, M; Traynor, Bj; Restagno, G; Parals,
Association of HLA class I markers with multiple sclerosis in the Italian and UK population: evidence of two independent protective effects. 1-gen-2011 Bergamaschi, L; Ban, M; Barizzone, Nadia; Leone, M; Ferrante, Daniela; Fasano, Me; Guerini, Fr; Corrado, Lucia; Naldi, P; Dametto, E; Agliardi, C; Salvetti, M; Mechelli, R; Galimberti, D; Scarpini, E; Cavalla, P; Bargiggia, V; Caputo, D; Cordera, S; Monaco, F; Momigliano Richiardi, P; D'Alfonso, Sandra
Association of osteopontin regulatory polymorphisms with systemic sclerosis 1-gen-2011 Barizzone, Nadia; Marchini, M; Cappiello, F; Chiocchetti, Annalisa; Orilieri, E; Ferrante, Daniela; Corrado, Lucia; Mellone, S; Scorza, R; Dianzani, Umberto; D'Alfonso, Sandra
Multiple polymorphisms affect expression and function of the neuropeptide S receptor (NPSR1) 1-gen-2011 Anedda, F; Zucchelli, M; Schepis, D; Hellquist, A; Corrado, Lucia; D'Alfonso, Sandra; Achour, A; Mcinerney, G; Bertorello, A; Lordal, M; Befrits, R; Bjork, J; Bresso, F; Torkvist, L; Halfvarson, J; Kere, J; D'Amato, M.
VPS54 genetic analysis in ALS Italian cohort 1-gen-2011 Corrado, Lucia; Gagliardi, S; Carlomagno, Y; Mennini, T; Ticozzi, N; Mazzini, L; Silani, V; Cereda, C; D'Alfonso, Sandra
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