Sfoglia per Autore
Real-life experience with inotersen in hereditary transthyretin amyloidosis with late-onset phenotype: Data from an early-access program in Italy
2022 Luigetti, Marco; Antonini, Giovanni; Di Paolantonio, Andrea; Gentile, Luca; Grandis, Marina; Leonardi, Luca; Lozza, Alessandro; Manganelli, Fiore; Mazzeo, Anna; Mussinelli, Roberta; My, Filomena; Obici, Laura; Maria Pennisi, Elena; Romozzi, Marina; Russo, Massimo; Sabatelli, Mario; Salvalaggio, Alessandro; Tagliapietra, Matteo; Tozza, Stefano
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
2022 Schiava, M.; Ikenaga, C.; Villar-Quiles, R. N.; Caballero-Avila, M.; Topf, A.; Nishino, I.; Kimonis, V.; Udd, B.; Schoser, B.; Zanoteli, E.; Sgobbi Souza, P. V.; Tasca, Giorgio; Lloyd, T.; Lopez-De Munain, A.; Paradas, C.; Pegoraro, E.; Nadaj-Pakleza, A.; De Bleecker, J.; Badrising, U.; Alonso-Jimenez, A.; Kostera-Pruszczyk, A.; Miralles, F.; Shin, J. -H.; Bevilacqua, J. A.; Olive, M.; Vorgerd, M.; Kley, R.; Brady, S.; Williams, T.; Dominguez-Gonzalez, C.; Papadimas, G. K.; Warman-Chardon, J.; Claeys, K. G.; de Visser, M.; Muelas, N.; Laforet, P.; Malfatti, E.; Alfano, L. N.; Nair, S. S.; Manousakis, G.; Kushlaf, H. A.; Harms, M. B.; Nance, C.; Ramos-Fransi, A.; Rodolico, C.; Hewamadduma, C.; Cetin, H.; Garcia-Garcia, J.; Pal, E.; Farrugia, M. E.; Lamont, P. J.; Quinn, C.; Nedkova-Hristova, V.; Peric, S.; Luo, S.; Oldfors, A.; Taylor, K.; Ralston, S.; Stojkovic, T.; Weihl, C.; Diaz-Manera, J.; Martinez-Pineiro, A.; Topf, A.; Kaminska, A.; Mayhew, A.; Rydelius, A.; Behin, A.; Toscano, A.; Lain, A. H.; Lannes, B.; Velez, B.; Kierdaszuk, B.; De Paepe, B.; Eymard, B.; Cazcarra, C. M.; Paradasa, C.; Hedberg-Oldfors, C.; Longman, C.; Bettollo, C. M.; Papadopoulos, C.; Metay, C.; Hilton-Jones, D.; Zanotelli, E.; Harrington, E. A.; Eline, E.; Gelpi, E.; Rivas, E.; Miralles, F.; Soraru, G.; Bisogni, G.; Lucente, G.; Bassez, G.; Francois, J.; Chanson, J. -B.; Lin, J.; Skeoch, J.; Palmio, J.; Baets, J.; Perez, J. A.; Diaz, J.; Vilchez, J. J.; Hudson, J.; Hadzsiev, K.; Bello, L.; Campero, M.; Sabatelli, Mario; Masingue, M.; Monforte, Mauro; James, M.; Guglieri, M.; Inoue, M.; Povedano, M.; Hofer, M.; Olive, M.; Garcia-Angarita, N.; Earle, N.; Sarro, N. V.; Laforet, P.; Rihard, P.; de Jonghe, P.; Riguzzi, P.; Camano, P.; Rubio, R. D.; Carlier, R.; Muni-Lofra, R.; Fernandez-Torron, R.; Alvarez, R.; Krause, S.; Leonard-Louis, S.; Souvannanorath, S.; Klotz, S.; Thiele, S.; Xirou, S.; Evangelista, T.; Grider, T.; Rakocevic-Stojanovic, V.; Straub, V.; Zhu, W.; de Ridder, W.; Kelly, W.; Saito, Y.; Park, Y. -E.; Nishimori, Y.; Sahenk, Z.
Allele-specific silencing as therapy for familial amyotrophic lateral sclerosis caused by the p.G376D TARDBP mutation
2022 Romano, R.; De Luca, M.; Del Fiore, V. S.; Pecoraro, M.; Lattante, Serena; Sabatelli, Mario; La Bella, V.; Bucci, C.
Ocular involvement in hereditary transthyretin amyloidosis: A case series describing novel potential biomarkers
2021 Minnella, A. M.; Rissotto, R.; Maceroni, M.; Romano, A.; Fasciani, R.; Luigetti, M.; Sabatelli, M.; Rizzo, S.; Falsini, B.
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis
2021 Lattante, Serena; Doronzio, Paolo Niccolo'; Conte, Amelia; Marangi, Giuseppe; Martello, Francesco; Bisogni, Giulia; Meleo, Emiliana; Colavito, Davide; Del Giudice, Elda; Patanella, Agata Katia; Bernardo, Daniela; Romano, Angela; Zollino, Marcella; Sabatelli, Mario
Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study
2021 David, Adams; Michael, Polydefkis; Alejandra, González-Duarte; Jonas, Wixner; Arnt V, Kristen; Hartmut H, Schmidt; John L, Berk; Inés Asunción, Losada López; Angela, Dispenzieri; Dianna, Quan; Isabel M, Conceição; Michel S, Slama; Julian D, Gillmore; Theodoros, Kyriakides; Senda, Ajroud-Driss; Márcia, Waddington-Cruz; Michelle M, Mezei; Violaine, Planté-Bordeneuve; Shahram, Attarian; Elizabeth, Mauricio; Thomas H, Brannagan; Mitsuharu, Ueda; Emre, Aldinc; Jing Jing, Wang; Matthew T, White; John, Vest; Erhan, Berber; Marianne T, Sweetser; Teresa, Coelho; Vita, Giuseppe; Rizzo, Vincenzo; Russo, Massimo; Mazzeo, Anna; Gentile, Luca; L Berk, John; Brueckner, Caitlin; Lazzari, Victoria; Wiesman, Janice; Delong, Douglas; Victory, Jennifer; Dalton, James; May, John; Gilmore, Catherine; Attarian, Shahram; Diallo, Saran; Delmont, Emilien; Pouget, Jean; Verschueren, Annie; Grapperon, Aude-Marie; Campana-Salort, Emmanuelle; M Conceição, Isabel; Lopes, Ana; Lamas, Filipa; Neves, Carlos; Castro, Jose; Pereira, Pedro; Castro, Isabel; Franco, Ana; Oliveira Santos, Miguel; de Azevedo Coutinho, Conceição; Falcao de Campos, Catarina; Coelho, Teresa; Hipólito Reis, Antonio; Correia, Nuno; M Perez, Javier; Martins da Silva, Ana; Alves, Cristina; Cardoso, Marcio; Valdrez, Katia; R Monte, Julia; Pessoa, Bernardete; Guimaraes, Nadia; Freitas, Monica; Ramalho, Joana; Ferreira, Natalia; Kuzume, Daisuke; Tard, Celine; Waucquier, Nawal; Rougeaux, Isabelle; Brice, Sylvie; Kasprzyk, Emmanuelle; Elrezzi, Elise; Meguig, Sayah; Hachulla, Eric; Gauvain, Clement; Migaud-Chervy, Maria-Claire; Deplanque, Dominique; Jozefowicz, Elsa; Lebellec, Loic; Adams, David; Balaya-Gouraya, Line; Jehan Lacour, Nathalie; Bournane, Halima; Martin, Nathalie; Elabed, Mongia; Sacko, Niamey; Boubrit, Yasmine; Gaouar, Amina; Rakotondratafika, Fetra; Théaudin-Saliou, Marie; Cauquil-Michon, Cécile; Labeyrie, Celine; Not, Adeline; Al-Salameh, Abdallah; Lecoq, Anne-Lise; Stephant, Maeva; Echaniz-Laguna, Andoni; Becquemont, Laurent; Beaudonnet, Guillemette; Algalarrondo, Vincent; Eliahou, Ludivine; S Slama, Michel; Rousseau, Antoine; Signate, Aissatou; Berthelot, Emeline; Inamo, Jocelyn; Planté-Bordeneuve, Violaine; Vervoitte, Laetitia; Focseneanu, Cecile; Gendre, Thierry; Arrouasse, Raphaele; Ayache, Samar S.; Ernande, Laura; Le Corvoisier, Philippe; Salhi, Hayet; Choumert, Ariane; Ehinger, Vincent; Ruiz, Julie; Charlin, Cyril; Megelin, Thomas; H Brannagan III, Thomas; Fayerman, Raisy; Kim, Arreum; Paras, Allan; J Gonzalez, Leidy; Tsang, Steven; Wajnsztajn, Fernanda; Shije, Jeffrey; Ulane, Christina; Kleyman, Inna; Weimer, Louis; Cioroiu, Comana; Lambrianides, Sakis; Abu-Manneh, Rana; Zamba-Papanicolaou, Eleni; Agathangelou, Petros; Leonidou, Eleni; Tada, Satoshi; Fujita, Akemi; Nagai, Masahiro; Ando, Rina; Hosokawa, Yuko; Yamanishi, Yuki; Scott Overcash, J.; Giardino, Elena; Boyer, Leslie; Dang, Lien; Le, An; Nguyen, Tyler; Giang, Lien; Sellers, Peter; Tran, Leyla; Truong, Nghi; Vinas, Maita; Hrkman, Nicole; Miller, Sarah; Nguyen, David; Smith, Ashley; Pu, Helen; Li, Steve; Vuong, Thao; Dioso, Holly; Green, Sinikka; Lee, Kia; Chu, Hanh; Waters, Michael; J Coskun, Derya; A Zepeda, Karla; O'Riordan, William; Obici, Laura; Cortese, Andrea; Lozza, Alessandro; Merlini, Giampaolo; Rosti, Vittorio; Sabatelli, Mario; Bisogni, Giulia; Bernardo, Daniela; Luigetti, Marco; Di Paolantonio, Andrea; Guglielmino, Valeria; Bisogni, Giulia; Romano, Angela; Nienhuis, Hans; Bulthuis-Kuiper, Janita; V Kristen, Arnt; Gerk, Olga; Ulbricht, Hannah; Taylor, Lenka; Meyle, Eva; Kleinschmidt, Natalia; Meyrath, David; Noe-Schwenn, Simone; Meng, Ulrike; Bauer, Ralf; aus dem Siepen, Fabian; Hein, Selina; Takahashi, Tetsuya; Oshita, Tomohiko; Koujin, Yoko; Neshige, Shuichiro; Nezu, Tomohisa; Segawa, Akiko; Ueno, Hiroki; Morino, Hiroyuki; M Campistol, Josep; Maria Rodas Marin, Lida; Miquel Blasco Pelicano, Josep; Galán Dávila, Lucía; Palacios, Marta; Pytel Cordoba, Vanesa; Guerrero Sola, Antonio; Horga, Alejandro; García Feijoo, Julián; Perez de Isla, Leopoldo; Marques Júnior, Wilson; Moscardini, Mariana; Cristina Litcanov, Debora; Flavia Viera Lima, Ana; Rodrigues, Leonardo; Marques Coutinho, Barbara; Lavigne Moreira, Carolina; Daccach Marques, Vanessa; Munoz Beamud, Francisco; Gragera Martínez, Álvaro; Borrachero, Cristina; Asunción Losada López, Inés; Cisneros Barroso, Eugenia; Rodríguez Rodríguez, Adrián; Sanz, Monica; Rigo Oliver, Elena; González Moreno, Juan; M Gamez Martinez, Jose; Descals, Cristina; Uson, Mercedes; Jose Vega, Francisco; Figuerola, Antoni; Montala, Carles; Waddington-Cruz, Márcia; Dias da Silva, Moises; Gervais de Santa Rosa, Renata; Felipe Pinto, Luiz; Vinicius Pinto, Marcus; Cardoso Berensztejn, Amanda; Barroso, Fabio; Lautre, Andrea; G Orellana, Lucas; Alejandra González-Duarte Briseño, Maria; Cárdenas-Soto, Karla; Poled Jiménez López, Brenda; Lorena Pérez-Castañeda, Sandra; Gerardo Cantú Brito, Carlos; Rivera de la Parra, David; Pablo Hernandez Reyes, Jose; del Mar Saniger Alba, Maria; Criollo Mora, Elia; Parman, Yesim; Jülide Rezzan, Kus; Sahin, Erdi; G Serbest, Nail; Durmus, Hacer; Cakar, Arman; Ilknur Tugal Tutkun, Nuriye; Karamursel, Sacit; Elitok, Ali; G Sirin Inan, Nermin; Altinkurt, Emre; Polydefkis, Michael; Ye, Jing; C Allen, Adriane; Chaudhry, Vinay; Jarrett, Raquel; Bressler, Neil; L Burks, Kathleen; Liu, Qingfeng; Khoshnoodi, Mohammad; P Judge, Daniel; Vista, Geno; Mahmood Shah, Syed; Hamaguchi, Hirotoshi; Oda, Junko; Fukase, Emi; Taniguchi, Ikuko; Oda, Tetsuya; Endo, Hironobu; Shimomura, Masahiro; Katanazaka, Kimitaka; Koto, Shusuke; Nakano, Takahiro; Scheid, Christof; Zueiter, Andreas; Pester, Lars; Walter, Doreen; Özdemir, Betül; F Frenzel, Lukas; Holtick, Udo; Oh, Jeeyoung; Jin Kim, Hee; Jin Shin, Hyun; Choi, Kyomin; Yamashita, Taro; Ueda, Mitsuharu; Masuda, Teruaki; Misumi, Yohei; Ueda, Akihiko; Nakahara, Keiichi; Yorita, Akiko; Tsuruhisa, Seiko; Taniwaki, Takayuki; Harada, Masaya; Moritaka, Taiga; Sakurada, Naonori; A Mauricio, Elizabeth; Baskin, Amber; Dimberg, Elliot; Dispenzieri, Angela; Fonder, Amie; Hobbs, Miriam; J Russell, Stephen; Dyck, Peter; Gonsalves, Wilson; Leung, Nelson; E Witzig, Thomas; R Zeldenrust, Steven; Hwa, Lisa; Kapoor, Prashant; K Kumar, Shaji; Lin, Yi; A Lust, John; S Rajkumar, Vincent; Dingli, David; A Gertz, Morie; Go, Ronald; R Hayman, Suzanne; Dalia, Samir; Carrillo, Esmeralda; Gorevic, Peter; Mason, Garnette; Chao, Chi-Chao; Lee, Ming-Jen; Su, Jen-Jen; Hsieh, Sung-Tsang; Tsai, Li-Kai; Yeh, Shin-Joe; Yang, Chih-Chao; Ajroud-Driss Ajroud-Driss, Senda; Casey, Patricia; C Joslin, Benjamin; Freimer, Miriam; Sankey, Alison; Kenepp, Amanda; Heintzman, Sarah; Lorusso, Samantha; Hokezu, Youichi; Kim, Byoung-Joon; Kim, Juhyeon; Yeon Lee, Ga; Bin Cho, Eun; Jeon, Eun-Seok; Min, Ju-Hong; Myoung Seok, Jin; Lim Lee, Hye; Hong Park, Jae; Sekijima, Yoshiki; Miyazawa, Chinatsu; Kato, Nagaaki; Kishida, Dai; Hineno, Akiyo; Kodaira, Minori; Yoshinaga, Tsuneaki; Miyahara, Teruyoshi; Imai, Akira; Matsumoto, Kazuhiko; Lin, Kon-Ping; Lee, Yi-Chung; Wixner, Jonas; Falk, Malin; Pilebro, Bjorn; Suhr, Ole; Lindqvist, Per; Soderberg, Karin; Pedrosa-Domellöf, Fatima; Anan, Intissar; Nordh, Erik; Tournev, Ivaylo; Zhelyazkova-Glaveeva, Sashka; Cherneva, Zheyna; Sarafov, Staiko; Chamova, Teodora; Cherninkova-Gopina, Sylvia; H Schmidt, Hartmut; Friebel, Frauke; Zibert, Andree; Mihailovic, Natasa; Schubert, Friederike; Vorona, Elena; Lahme, Larissa; Huesing-Kabar, Anna; Schilling, Matthias; Kabar, Iyad; D Gillmore, Julian; Martinez-Naharro, Ana; Chacko, Liza; Cohen, Oliver; Law, Steven; Rezk, Tamer; J Lachmann, Helen; Quan, Dianna; Blume, Brianna; Dixon, Stacy; Chai Low, Soon; Looi Chan, Soo; Eng Li Lim, He; Jin Goh, Khean; M Mezei, Michelle; Kraus, Deborah; Jack, Kristin; Kevin Wade, N.; Lopate, Glenn; Zwijack, Brittany; Florence, Julaine; Brian Sommerville, R.; Stewart, Graeme; Ryder, Julie; Mekhael, Linda; Taylor, Mark; Suan, Daniel; Wells, Karen; Stone, Paula; Wells, Karen; Itoya, Amenze; Owusu-Sekyere, Mercy; Thai, Desmond; Chahine, Ilonah; Pedrosa, Salve; Hoa (Therese) Do, Thi
Aims: The ORal anticoagulants In fraGile patients with percutAneous endoscopic gastrostoMy and atrIal fibrillation (ORIGAMI) study investigates the safety and efficacy of Edoxaban administered via PEG in patients with atrial fibrillation and a clinical indication for a long-term anticoagulation. Design: In this prospective, single-centre observational study, 12 PEG-treated patients with indication to anticoagulation will receive edoxaban via PEG and will be followed up to 6 months. Plasma antifactor Xa activity and edoxaban concentrations will be assessed. Thromboembolic (ischaemic stroke, systemic embolism, venous thromboembolism) and bleeding events (Bleeding Academic Research Consortium and Thrombolysis in Myocardial Infarction) will be recorded at 1 and 6 months. Preliminary results: A retrospective analysis of five atrial fibrillation cases undergoing PEG implantation at our Institution who received edoxaban via PEG showed plasma anti-FXa levels at a steady state of 146 ± 15 ng/ml, without major adverse event at a mean follow-up of 6 months. Conclusion: ORIGAMI prospectively investigates PEG-administration of edoxaban in PEG-treated patients requiring long-term anticoagulation. Our preliminary retrospective data support this route of DOAC administration.
2021 1, Domenico D'Amario; Galli, Mattia; Canonico, Francesco; Restivo, Attilio; Arcudi, Alessandra; Scacciavillani, Roberto; Cappannoli, Luigi; Riccioni, Maria Elena; Giuseppina Annetta, Maria; Di Stefano, Gaetano; Piccinni, Carlo; Vergallo, Rocco; Antonio Montone, Rocco; Maria Leone, Antonio; Niccoli, Giampaolo; Sabatelli, Mario; Antonelli, Massimo; Andreotti, Felicita; De Cristofaro, Raimondo; Crea, Filippo
Clinical Heterogeneity of ALS-Implications for Models and Therapeutic Development
2021 Lattante, Serena; Sabatelli, Mario
Ultrasound assisted lumbar intrathecal administration of nusinersen in adult patients with spinal muscular atrophy: A case series
2021 Zanfini, Bruno Antonio; Catarci, Stefano; Patanella, Agata Katia; Pane, Marika; Frassanito, Luciano; Filipponi, Eleonora; Mercuri, Eugenio Maria; Sabatelli, Mario; Draisci, Gaetano
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis
2021 Johnson, Janel O; Chia, Ruth; Miller, Danny E; Li, Rachel; Kumaran, Ravindran; Abramzon, Yevgeniya; Alahmady, Nada; Renton, Alan E; Topp, Simon D; Gibbs, J Raphael; Cookson, Mark R; Sabir, Marya S; Dalgard, Clifton L; Troakes, Claire; Jones, Ashley R; Shatunov, Aleksey; Iacoangeli, Alfredo; Al Khleifat, Ahmad; Ticozzi, Nicola; Silani, Vincenzo; Gellera, Cinzia; Blair, Ian P; Dobson-Stone, Carol; Kwok, John B; Bonkowski, Emily S; Palvadeau, Robin; Tienari, Pentti J; Morrison, Karen E; Shaw, Pamela J; Al-Chalabi, Ammar; Brown, Robert H; Calvo, Andrea; Mora, Gabriele; Al-Saif, Hind; Gotkine, Marc; Leigh, Fawn; Chang, Irene J; Perlman, Seth J; Glass, Ian; Scott, Anna I; Shaw, Christopher E; Basak, A Nazli; Landers, John E; Chiò, Adriano; Crawford, Thomas O; Smith, Bradley N; Traynor, Bryan J; Smith, Bradley N; Ticozzi, Nicola; Fallini, Claudia; Gkazi, Athina Soragia; Topp, Simon D; Scotter, Emma L; Kenna, Kevin P; Keagle, Pamela; Tiloca, Cinzia; Vance, Caroline; Troakes, Claire; Colombrita, Claudia; King, Andrew; Pensato, Viviana; Castellotti, Barbara; Baas, Frank; Ten Asbroek, Anneloor L M A; McKenna-Yasek, Diane; Mclaughlin, Russell L; Polak, Meraida; Asress, Seneshaw; Esteban-Pérez, Jesús; Stevic, Zorica; D'Alfonso, Sandra; Mazzini, Letizia; Comi, Giacomo P; Del Bo, Roberto; Ceroni, Mauro; Gagliardi, Stella; Querin, Giorgia; Bertolin, Cinzia; van Rheenen, Wouter; Rademakers, Rosa; van Blitterswijk, Marka; Lauria, Giuseppe; Duga, Stefano; Corti, Stefania; Cereda, Cristina; Corrado, Lucia; Sorarù, Gianni; Williams, Kelly L; Nicholson, Garth A; Blair, Ian P; Leblond-Manry, Claire; Rouleau, Guy A; Hardiman, Orla; Morrison, Karen E; 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; Dalgard, Clifton L; Adeleye, Adelani; Soltis, Anthony R; Alba, Camille; Viollet, Coralie; Bacikova, Dagmar; Hupalo, Daniel N; Sukumar, Gauthaman; Pollard, Harvey B; Wilkerson, Matthew D; Martinez, Elisa McGrath; Abramzon, Yevgeniya; Ahmed, Sarah; Arepalli, Sampath; Baloh, Robert H; Bowser, Robert; Brady, Christopher B; Brice, Alexis; Broach, James; Campbell, Roy H; Camu, William; Chia, Ruth; Cooper-Knock, John; Ding, Jinhui; Drepper, Carsten; Drory, Vivian E; Dunckley, Travis L; Eicher, John D; England, Bryce K; Faghri, Faraz; Feldman, Eva; Floeter, Mary Kay; Fratta, Pietro; Geiger, Joshua T; Gerhard, Glenn; Gibbs, J Raphael; Gibson, Summer B; Glass, Jonathan D; Hardy, John; Harms, Matthew B; Heiman-Patterson, Terry D; Hernandez, Dena G; Jansson, Lilja; Kirby, Janine; Kowall, Neil W; Laaksovirta, Hannu; Landeck, Natalie; Landi, Francesco; Le Ber, Isabelle; Lumbroso, Serge; Macgowan, Daniel J L; Maragakis, Nicholas J; Mora, Gabriele; Mouzat, Kevin; Murphy, Natalie A; Myllykangas, Liisa; Nalls, Mike A; Orrell, Richard W; Ostrow, Lyle W; Pamphlett, Roger; Pickering-Brown, Stuart; Pioro, Erik P; Pletnikova, Olga; Pliner, Hannah A; Pulst, Stefan M; Ravits, John M; Renton, Alan E; Rivera, Alberto; Robberecht, Wim; Rogaeva, Ekaterina; Rollinson, Sara; Rothstein, Jeffrey D; Scholz, Sonja W; Sendtner, Michael; Shaw, Pamela J; Sidle, Katie C; Simmons, Zachary; Singleton, Andrew B; Smith, Nathan; Stone, David J; Tienari, Pentti J; Troncoso, Juan C; Valori, Miko; Van Damme, Philip; Van Deerlin, Vivianna M; Van Den Bosch, Ludo; Zinman, Lorne; Landers, John E; Chiò, Adriano; Traynor, Bryan J; Angelocola, Stefania M; Ausiello, Francesco P; Barberis, Marco; Bartolomei, Ilaria; Battistini, Stefania; Bersano, Enrica; Bisogni, Giulia; Borghero, Giuseppe; Brunetti, Maura; Cabona, Corrado; Calvo, Andrea; Canale, Fabrizio; Canosa, Antonio; Cantisani, Teresa A; Capasso, Margherita; Caponnetto, Claudia; Cardinali, Patrizio; Carrera, Paola; Casale, Federico; Chiò, Adriano; Colletti, Tiziana; Conforti, Francesca L; Conte, Amelia; Conti, Elisa; Corbo, Massimo; Cuccu, Stefania; Dalla Bella, Eleonora; D'Errico, Eustachio; Demarco, Giovanni; Dubbioso, Raffaele; Ferrarese, Carlo; Ferraro, Pilar M; Filippi, Massimo; Fini, Nicola; Floris, Gianluca; Fuda, Giuseppe; Gallone, Salvatore; Gianferrari, Giulia; Giannini, Fabio; Grassano, Maurizio; Greco, Anna Lucia; Iazzolino, Barbara; Introna, Alessandro; La Bella, Vincenzo; Lattante, Serena; Lauria, Giuseppe; Liguori, Rocco; Logroscino, Giancarlo; Logullo, Francesco O; Lunetta, Christian; Mandich, Paola; Mandrioli, Jessica; Manera, Umberto; Manganelli, Fiore; Marangi, Giuseppe; Marinou, Kalliopi; Marrosu, Maria Giovanna; Martinelli, Ilaria; Messina, Sonia; Moglia, Cristina; Mora, Gabriele; Mosca, Lorena; Murru, Maria R; Origone, Paola; Passaniti, Carla; Petrelli, Cristina; Petrucci, Antonio; Pozzi, Susanna; Pugliatti, Maura; Quattrini, Angelo; Ricci, Claudia; Riolo, Giulia; Riva, Nilo; Russo, Massimo; Sabatelli, Mario; Salamone, Paolina; Salivetto, Marco; Salvi, Fabrizio; Santarelli, Marialuisa; Sbaiz, Luca; Sideri, Riccardo; Simone, Isabella; Simonini, Cecilia; Spataro, Rossella; Tanel, Raffaella; Tedeschi, Gioacchino; Ticca, Anna; Torriello, Antonella; Tranquilli, Stefania; Tremolizzo, Lucio; Trojsi, Francesca; Vasta, Rosario; Vacchiano, Veria; Vita, Giuseppe; Volanti, Paolo; Zollino, Marcella; Zucchi, Elisabetta
Targeting S100A4 with niclosamide attenuates inflammatory and profibrotic pathways in models of amyotrophic lateral sclerosis
2021 Milani, M.; Mammarella, E.; Rossi, S.; Miele, C.; Lattante, Serena; Sabatelli, Mario; Cozzolino, M.; D'Ambrosi, N.; Apolloni, S.
ORal anticoagulants In fraGile patients with percutAneous endoscopic gastrostoMy and atrIal fibrillation: the (ORIGAMI) study
2021 D'Amario, Domenico; Galli, Mattia; Canonico, Francesco; Restivo, Attilio; Arcudi, Alessandra; Scacciavillani, Roberto; Cappannoli, Luigi; Riccioni, Maria Elena; Annetta, Maria Giuseppina; Di Stefano, G.; Piccinni, C.; Vergallo, Rocco; Montone, Rocco Antonio; Leone, Antonio Maria; Niccoli, Giampaolo; Sabatelli, Mario; Antonelli, Massimo; Andreotti, Felicita; De Cristofaro, Raimondo; Crea, Filippo
Reassessing IVIg therapy in chronic inflammatory demyelinating polyradiculoneuropathy during COVID-19: a chance to verify the need for chronic maintenance therapy
2021 Romozzi, Marina; Bisogni, G.; Sabatelli, Mario; Luigetti, Marco
Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy
2021 Magliano, Lorenza; Obici, Laura; Sforzini, Claudia; Mazzeo, Anna; Russo, Massimo; Cappelli, Francesco; Fenu, Silvia; Luigetti, Marco; Tagliapietra, Matteo; Gemelli, Chiara; Leonardi, Luca; Tozza, Stefano; Pradotto, Luca Guglielmo; Citarelli, Giulia; Mauro, Alessandro; Manganelli, Fiore; Antonini, Giovanni; Grandis, Marina; Fabrizi, Gian Maria; Sabatelli, Mario; Pareyson, Davide; Perfetto, Federico; Merlini, Giampaolo; Vita, Giuseppe
A longitudinal study defined circulating microRNAs as reliable biomarkers for disease prognosis and progression in ALS human patients
2021 Dobrowolny, G.; Martone, J.; Lepore, E.; Casola, I.; Petrucci, A.; Inghilleri, M.; Morlando, M.; Colantoni, A.; Scicchitano, Bianca Maria; Calvo, A.; Bisogni, G.; Chio, A.; Sabatelli, Mario; Bozzoni, I.; Musaro, A.
Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant
2021 Martello, F.; Lattante, S.; Doronzio, P. N.; Conte, A.; Bisogni, G.; Orteschi, D.; Pirozzi, F.; Sabatelli, M.; Zollino, M.; Marangi, G.
Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein
2021 D'Anzi, A.; Altieri, F.; Perciballi, E.; Ferrari, D.; Torres, B.; Bernardini, L.; Lattante, Serena; Sabatelli, Mario; Vescovi, A. L.; Rosati, J.
Thr124Met myelin protein zero mutation mimicking motor neuron disease
2021 Bisogni, G.; Romano, A.; Conte, A.; Tasca, Giorgio; Bernardo, D.; Luigetti, Marco; Di Paolantonio, Andrea; Fabrizi, G. M.; Patanella, A. K.; Meleo, Emiliana; Sabatelli, Mario
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration
2021 Barbier, M.; Camuzat, A.; Hachimi, K. E.; Guegan, J.; Rinaldi, D.; Lattante, Serena; Houot, M.; Sanchez-Valle, R.; Sabatelli, Mario; Antonell, A.; Molina-Porcel, L.; Clot, F.; Couratier, P.; Van Der Ende, E.; Van Der Zee, J.; Manzoni, C.; Camu, W.; Cazeneuve, C.; Sellal, F.; Didic, M.; Golfier, V.; Pasquier, F.; Duyckaerts, C.; Rossi, G.; Bruni, A. C.; Alvarez, V.; Gomez-Tortosa, E.; De Mendonca, A.; Graff, C.; Masellis, M.; Nacmias, B.; Oumoussa, B. M.; Jornea, L.; Forlani, S.; Van Deerlin, V.; Rohrer, J. D.; Gelpi, E.; Rademakers, R.; Van Swieten, J.; Le Guern, E.; Van Broeckhoven, C.; Ferrari, R.; Genin, E.; Brice, A.; Le Ber, I.
Pathological findings in chronic inflammatory demyelinating polyradiculoneuropathy: A single-center experience
2020 Luigetti, Marco; Romano, Angela; Di Paolantonio, Andrea; Bisogni, G.; Rossi, Salvatore; Conte, A.; Madia, Francesca; Sabatelli, Mario
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2022 | Real-life experience with inotersen in hereditary transthyretin amyloidosis with late-onset phenotype: Data from an early-access program in Italy | Luigetti, Marco; Antonini, Giovanni; Di Paolantonio, Andrea; Gentile, Luca; Grandis, Marina; Leonardi, Luca; Lozza, Alessandro; Manganelli, Fiore; Mazzeo, Anna; Mussinelli, Roberta; My, Filomena; Obici, Laura; Maria Pennisi, Elena; Romozzi, Marina; Russo, Massimo; Sabatelli, Mario; Salvalaggio, Alessandro; Tagliapietra, Matteo; Tozza, Stefano | |
| 1-gen-2022 | Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study | Schiava, M.; Ikenaga, C.; Villar-Quiles, R. N.; Caballero-Avila, M.; Topf, A.; Nishino, I.; Kimonis, V.; Udd, B.; Schoser, B.; Zanoteli, E.; Sgobbi Souza, P. V.; Tasca, Giorgio; Lloyd, T.; Lopez-De Munain, A.; Paradas, C.; Pegoraro, E.; Nadaj-Pakleza, A.; De Bleecker, J.; Badrising, U.; Alonso-Jimenez, A.; Kostera-Pruszczyk, A.; Miralles, F.; Shin, J. -H.; Bevilacqua, J. A.; Olive, M.; Vorgerd, M.; Kley, R.; Brady, S.; Williams, T.; Dominguez-Gonzalez, C.; Papadimas, G. K.; Warman-Chardon, J.; Claeys, K. G.; de Visser, M.; Muelas, N.; Laforet, P.; Malfatti, E.; Alfano, L. N.; Nair, S. S.; Manousakis, G.; Kushlaf, H. A.; Harms, M. B.; Nance, C.; Ramos-Fransi, A.; Rodolico, C.; Hewamadduma, C.; Cetin, H.; Garcia-Garcia, J.; Pal, E.; Farrugia, M. E.; Lamont, P. J.; Quinn, C.; Nedkova-Hristova, V.; Peric, S.; Luo, S.; Oldfors, A.; Taylor, K.; Ralston, S.; Stojkovic, T.; Weihl, C.; Diaz-Manera, J.; Martinez-Pineiro, A.; Topf, A.; Kaminska, A.; Mayhew, A.; Rydelius, A.; Behin, A.; Toscano, A.; Lain, A. H.; Lannes, B.; Velez, B.; Kierdaszuk, B.; De Paepe, B.; Eymard, B.; Cazcarra, C. M.; Paradasa, C.; Hedberg-Oldfors, C.; Longman, C.; Bettollo, C. M.; Papadopoulos, C.; Metay, C.; Hilton-Jones, D.; Zanotelli, E.; Harrington, E. A.; Eline, E.; Gelpi, E.; Rivas, E.; Miralles, F.; Soraru, G.; Bisogni, G.; Lucente, G.; Bassez, G.; Francois, J.; Chanson, J. -B.; Lin, J.; Skeoch, J.; Palmio, J.; Baets, J.; Perez, J. A.; Diaz, J.; Vilchez, J. J.; Hudson, J.; Hadzsiev, K.; Bello, L.; Campero, M.; Sabatelli, Mario; Masingue, M.; Monforte, Mauro; James, M.; Guglieri, M.; Inoue, M.; Povedano, M.; Hofer, M.; Olive, M.; Garcia-Angarita, N.; Earle, N.; Sarro, N. V.; Laforet, P.; Rihard, P.; de Jonghe, P.; Riguzzi, P.; Camano, P.; Rubio, R. D.; Carlier, R.; Muni-Lofra, R.; Fernandez-Torron, R.; Alvarez, R.; Krause, S.; Leonard-Louis, S.; Souvannanorath, S.; Klotz, S.; Thiele, S.; Xirou, S.; Evangelista, T.; Grider, T.; Rakocevic-Stojanovic, V.; Straub, V.; Zhu, W.; de Ridder, W.; Kelly, W.; Saito, Y.; Park, Y. -E.; Nishimori, Y.; Sahenk, Z. | |
| 1-gen-2022 | Allele-specific silencing as therapy for familial amyotrophic lateral sclerosis caused by the p.G376D TARDBP mutation | Romano, R.; De Luca, M.; Del Fiore, V. S.; Pecoraro, M.; Lattante, Serena; Sabatelli, Mario; La Bella, V.; Bucci, C. | |
| 1-gen-2021 | Ocular involvement in hereditary transthyretin amyloidosis: A case series describing novel potential biomarkers | Minnella, A. M.; Rissotto, R.; Maceroni, M.; Romano, A.; Fasciani, R.; Luigetti, M.; Sabatelli, M.; Rizzo, S.; Falsini, B. | |
| 1-gen-2021 | Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis | Lattante, Serena; Doronzio, Paolo Niccolo'; Conte, Amelia; Marangi, Giuseppe; Martello, Francesco; Bisogni, Giulia; Meleo, Emiliana; Colavito, Davide; Del Giudice, Elda; Patanella, Agata Katia; Bernardo, Daniela; Romano, Angela; Zollino, Marcella; Sabatelli, Mario | |
| 1-gen-2021 | Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study | David, Adams; Michael, Polydefkis; Alejandra, González-Duarte; Jonas, Wixner; Arnt V, Kristen; Hartmut H, Schmidt; John L, Berk; Inés Asunción, Losada López; Angela, Dispenzieri; Dianna, Quan; Isabel M, Conceição; Michel S, Slama; Julian D, Gillmore; Theodoros, Kyriakides; Senda, Ajroud-Driss; Márcia, Waddington-Cruz; Michelle M, Mezei; Violaine, Planté-Bordeneuve; Shahram, Attarian; Elizabeth, Mauricio; Thomas H, Brannagan; Mitsuharu, Ueda; Emre, Aldinc; Jing Jing, Wang; Matthew T, White; John, Vest; Erhan, Berber; Marianne T, Sweetser; Teresa, Coelho; Vita, Giuseppe; Rizzo, Vincenzo; Russo, Massimo; Mazzeo, Anna; Gentile, Luca; L Berk, John; Brueckner, Caitlin; Lazzari, Victoria; Wiesman, Janice; Delong, Douglas; Victory, Jennifer; Dalton, James; May, John; Gilmore, Catherine; Attarian, Shahram; Diallo, Saran; Delmont, Emilien; Pouget, Jean; Verschueren, Annie; Grapperon, Aude-Marie; Campana-Salort, Emmanuelle; M Conceição, Isabel; Lopes, Ana; Lamas, Filipa; Neves, Carlos; Castro, Jose; Pereira, Pedro; Castro, Isabel; Franco, Ana; Oliveira Santos, Miguel; de Azevedo Coutinho, Conceição; Falcao de Campos, Catarina; Coelho, Teresa; Hipólito Reis, Antonio; Correia, Nuno; M Perez, Javier; Martins da Silva, Ana; Alves, Cristina; Cardoso, Marcio; Valdrez, Katia; R Monte, Julia; Pessoa, Bernardete; Guimaraes, Nadia; Freitas, Monica; Ramalho, Joana; Ferreira, Natalia; Kuzume, Daisuke; Tard, Celine; Waucquier, Nawal; Rougeaux, Isabelle; Brice, Sylvie; Kasprzyk, Emmanuelle; Elrezzi, Elise; Meguig, Sayah; Hachulla, Eric; Gauvain, Clement; Migaud-Chervy, Maria-Claire; Deplanque, Dominique; Jozefowicz, Elsa; Lebellec, Loic; Adams, David; Balaya-Gouraya, Line; Jehan Lacour, Nathalie; Bournane, Halima; Martin, Nathalie; Elabed, Mongia; Sacko, Niamey; Boubrit, Yasmine; Gaouar, Amina; Rakotondratafika, Fetra; Théaudin-Saliou, Marie; Cauquil-Michon, Cécile; Labeyrie, Celine; Not, Adeline; Al-Salameh, Abdallah; Lecoq, Anne-Lise; Stephant, Maeva; Echaniz-Laguna, Andoni; Becquemont, Laurent; Beaudonnet, Guillemette; Algalarrondo, Vincent; Eliahou, Ludivine; S Slama, Michel; Rousseau, Antoine; Signate, Aissatou; Berthelot, Emeline; Inamo, Jocelyn; Planté-Bordeneuve, Violaine; Vervoitte, Laetitia; Focseneanu, Cecile; Gendre, Thierry; Arrouasse, Raphaele; Ayache, Samar S.; Ernande, Laura; Le Corvoisier, Philippe; Salhi, Hayet; Choumert, Ariane; Ehinger, Vincent; Ruiz, Julie; Charlin, Cyril; Megelin, Thomas; H Brannagan III, Thomas; Fayerman, Raisy; Kim, Arreum; Paras, Allan; J Gonzalez, Leidy; Tsang, Steven; Wajnsztajn, Fernanda; Shije, Jeffrey; Ulane, Christina; Kleyman, Inna; Weimer, Louis; Cioroiu, Comana; Lambrianides, Sakis; Abu-Manneh, Rana; Zamba-Papanicolaou, Eleni; Agathangelou, Petros; Leonidou, Eleni; Tada, Satoshi; Fujita, Akemi; Nagai, Masahiro; Ando, Rina; Hosokawa, Yuko; Yamanishi, Yuki; Scott Overcash, J.; Giardino, Elena; Boyer, Leslie; Dang, Lien; Le, An; Nguyen, Tyler; Giang, Lien; Sellers, Peter; Tran, Leyla; Truong, Nghi; Vinas, Maita; Hrkman, Nicole; Miller, Sarah; Nguyen, David; Smith, Ashley; Pu, Helen; Li, Steve; Vuong, Thao; Dioso, Holly; Green, Sinikka; Lee, Kia; Chu, Hanh; Waters, Michael; J Coskun, Derya; A Zepeda, Karla; O'Riordan, William; Obici, Laura; Cortese, Andrea; Lozza, Alessandro; Merlini, Giampaolo; Rosti, Vittorio; Sabatelli, Mario; Bisogni, Giulia; Bernardo, Daniela; Luigetti, Marco; Di Paolantonio, Andrea; Guglielmino, Valeria; Bisogni, Giulia; Romano, Angela; Nienhuis, Hans; Bulthuis-Kuiper, Janita; V Kristen, Arnt; Gerk, Olga; Ulbricht, Hannah; Taylor, Lenka; Meyle, Eva; Kleinschmidt, Natalia; Meyrath, David; Noe-Schwenn, Simone; Meng, Ulrike; Bauer, Ralf; aus dem Siepen, Fabian; Hein, Selina; Takahashi, Tetsuya; Oshita, Tomohiko; Koujin, Yoko; Neshige, Shuichiro; Nezu, Tomohisa; Segawa, Akiko; Ueno, Hiroki; Morino, Hiroyuki; M Campistol, Josep; Maria Rodas Marin, Lida; Miquel Blasco Pelicano, Josep; Galán Dávila, Lucía; Palacios, Marta; Pytel Cordoba, Vanesa; Guerrero Sola, Antonio; Horga, Alejandro; García Feijoo, Julián; Perez de Isla, Leopoldo; Marques Júnior, Wilson; Moscardini, Mariana; Cristina Litcanov, Debora; Flavia Viera Lima, Ana; Rodrigues, Leonardo; Marques Coutinho, Barbara; Lavigne Moreira, Carolina; Daccach Marques, Vanessa; Munoz Beamud, Francisco; Gragera Martínez, Álvaro; Borrachero, Cristina; Asunción Losada López, Inés; Cisneros Barroso, Eugenia; Rodríguez Rodríguez, Adrián; Sanz, Monica; Rigo Oliver, Elena; González Moreno, Juan; M Gamez Martinez, Jose; Descals, Cristina; Uson, Mercedes; Jose Vega, Francisco; Figuerola, Antoni; Montala, Carles; Waddington-Cruz, Márcia; Dias da Silva, Moises; Gervais de Santa Rosa, Renata; Felipe Pinto, Luiz; Vinicius Pinto, Marcus; Cardoso Berensztejn, Amanda; Barroso, Fabio; Lautre, Andrea; G Orellana, Lucas; Alejandra González-Duarte Briseño, Maria; Cárdenas-Soto, Karla; Poled Jiménez López, Brenda; Lorena Pérez-Castañeda, Sandra; Gerardo Cantú Brito, Carlos; Rivera de la Parra, David; Pablo Hernandez Reyes, Jose; del Mar Saniger Alba, Maria; Criollo Mora, Elia; Parman, Yesim; Jülide Rezzan, Kus; Sahin, Erdi; G Serbest, Nail; Durmus, Hacer; Cakar, Arman; Ilknur Tugal Tutkun, Nuriye; Karamursel, Sacit; Elitok, Ali; G Sirin Inan, Nermin; Altinkurt, Emre; Polydefkis, Michael; Ye, Jing; C Allen, Adriane; Chaudhry, Vinay; Jarrett, Raquel; Bressler, Neil; L Burks, Kathleen; Liu, Qingfeng; Khoshnoodi, Mohammad; P Judge, Daniel; Vista, Geno; Mahmood Shah, Syed; Hamaguchi, Hirotoshi; Oda, Junko; Fukase, Emi; Taniguchi, Ikuko; Oda, Tetsuya; Endo, Hironobu; Shimomura, Masahiro; Katanazaka, Kimitaka; Koto, Shusuke; Nakano, Takahiro; Scheid, Christof; Zueiter, Andreas; Pester, Lars; Walter, Doreen; Özdemir, Betül; F Frenzel, Lukas; Holtick, Udo; Oh, Jeeyoung; Jin Kim, Hee; Jin Shin, Hyun; Choi, Kyomin; Yamashita, Taro; Ueda, Mitsuharu; Masuda, Teruaki; Misumi, Yohei; Ueda, Akihiko; Nakahara, Keiichi; Yorita, Akiko; Tsuruhisa, Seiko; Taniwaki, Takayuki; Harada, Masaya; Moritaka, Taiga; Sakurada, Naonori; A Mauricio, Elizabeth; Baskin, Amber; Dimberg, Elliot; Dispenzieri, Angela; Fonder, Amie; Hobbs, Miriam; J Russell, Stephen; Dyck, Peter; Gonsalves, Wilson; Leung, Nelson; E Witzig, Thomas; R Zeldenrust, Steven; Hwa, Lisa; Kapoor, Prashant; K Kumar, Shaji; Lin, Yi; A Lust, John; S Rajkumar, Vincent; Dingli, David; A Gertz, Morie; Go, Ronald; R Hayman, Suzanne; Dalia, Samir; Carrillo, Esmeralda; Gorevic, Peter; Mason, Garnette; Chao, Chi-Chao; Lee, Ming-Jen; Su, Jen-Jen; Hsieh, Sung-Tsang; Tsai, Li-Kai; Yeh, Shin-Joe; Yang, Chih-Chao; Ajroud-Driss Ajroud-Driss, Senda; Casey, Patricia; C Joslin, Benjamin; Freimer, Miriam; Sankey, Alison; Kenepp, Amanda; Heintzman, Sarah; Lorusso, Samantha; Hokezu, Youichi; Kim, Byoung-Joon; Kim, Juhyeon; Yeon Lee, Ga; Bin Cho, Eun; Jeon, Eun-Seok; Min, Ju-Hong; Myoung Seok, Jin; Lim Lee, Hye; Hong Park, Jae; Sekijima, Yoshiki; Miyazawa, Chinatsu; Kato, Nagaaki; Kishida, Dai; Hineno, Akiyo; Kodaira, Minori; Yoshinaga, Tsuneaki; Miyahara, Teruyoshi; Imai, Akira; Matsumoto, Kazuhiko; Lin, Kon-Ping; Lee, Yi-Chung; Wixner, Jonas; Falk, Malin; Pilebro, Bjorn; Suhr, Ole; Lindqvist, Per; Soderberg, Karin; Pedrosa-Domellöf, Fatima; Anan, Intissar; Nordh, Erik; Tournev, Ivaylo; Zhelyazkova-Glaveeva, Sashka; Cherneva, Zheyna; Sarafov, Staiko; Chamova, Teodora; Cherninkova-Gopina, Sylvia; H Schmidt, Hartmut; Friebel, Frauke; Zibert, Andree; Mihailovic, Natasa; Schubert, Friederike; Vorona, Elena; Lahme, Larissa; Huesing-Kabar, Anna; Schilling, Matthias; Kabar, Iyad; D Gillmore, Julian; Martinez-Naharro, Ana; Chacko, Liza; Cohen, Oliver; Law, Steven; Rezk, Tamer; J Lachmann, Helen; Quan, Dianna; Blume, Brianna; Dixon, Stacy; Chai Low, Soon; Looi Chan, Soo; Eng Li Lim, He; Jin Goh, Khean; M Mezei, Michelle; Kraus, Deborah; Jack, Kristin; Kevin Wade, N.; Lopate, Glenn; Zwijack, Brittany; Florence, Julaine; Brian Sommerville, R.; Stewart, Graeme; Ryder, Julie; Mekhael, Linda; Taylor, Mark; Suan, Daniel; Wells, Karen; Stone, Paula; Wells, Karen; Itoya, Amenze; Owusu-Sekyere, Mercy; Thai, Desmond; Chahine, Ilonah; Pedrosa, Salve; Hoa (Therese) Do, Thi | |
| 1-gen-2021 | Aims: The ORal anticoagulants In fraGile patients with percutAneous endoscopic gastrostoMy and atrIal fibrillation (ORIGAMI) study investigates the safety and efficacy of Edoxaban administered via PEG in patients with atrial fibrillation and a clinical indication for a long-term anticoagulation. Design: In this prospective, single-centre observational study, 12 PEG-treated patients with indication to anticoagulation will receive edoxaban via PEG and will be followed up to 6 months. Plasma antifactor Xa activity and edoxaban concentrations will be assessed. Thromboembolic (ischaemic stroke, systemic embolism, venous thromboembolism) and bleeding events (Bleeding Academic Research Consortium and Thrombolysis in Myocardial Infarction) will be recorded at 1 and 6 months. Preliminary results: A retrospective analysis of five atrial fibrillation cases undergoing PEG implantation at our Institution who received edoxaban via PEG showed plasma anti-FXa levels at a steady state of 146 ± 15 ng/ml, without major adverse event at a mean follow-up of 6 months. Conclusion: ORIGAMI prospectively investigates PEG-administration of edoxaban in PEG-treated patients requiring long-term anticoagulation. Our preliminary retrospective data support this route of DOAC administration. | 1, Domenico D'Amario; Galli, Mattia; Canonico, Francesco; Restivo, Attilio; Arcudi, Alessandra; Scacciavillani, Roberto; Cappannoli, Luigi; Riccioni, Maria Elena; Giuseppina Annetta, Maria; Di Stefano, Gaetano; Piccinni, Carlo; Vergallo, Rocco; Antonio Montone, Rocco; Maria Leone, Antonio; Niccoli, Giampaolo; Sabatelli, Mario; Antonelli, Massimo; Andreotti, Felicita; De Cristofaro, Raimondo; Crea, Filippo | |
| 1-gen-2021 | Clinical Heterogeneity of ALS-Implications for Models and Therapeutic Development | Lattante, Serena; Sabatelli, Mario | |
| 1-gen-2021 | Ultrasound assisted lumbar intrathecal administration of nusinersen in adult patients with spinal muscular atrophy: A case series | Zanfini, Bruno Antonio; Catarci, Stefano; Patanella, Agata Katia; Pane, Marika; Frassanito, Luciano; Filipponi, Eleonora; Mercuri, Eugenio Maria; Sabatelli, Mario; Draisci, Gaetano | |
| 1-gen-2021 | Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis | Johnson, Janel O; Chia, Ruth; Miller, Danny E; Li, Rachel; Kumaran, Ravindran; Abramzon, Yevgeniya; Alahmady, Nada; Renton, Alan E; Topp, Simon D; Gibbs, J Raphael; Cookson, Mark R; Sabir, Marya S; Dalgard, Clifton L; Troakes, Claire; Jones, Ashley R; Shatunov, Aleksey; Iacoangeli, Alfredo; Al Khleifat, Ahmad; Ticozzi, Nicola; Silani, Vincenzo; Gellera, Cinzia; Blair, Ian P; Dobson-Stone, Carol; Kwok, John B; Bonkowski, Emily S; Palvadeau, Robin; Tienari, Pentti J; Morrison, Karen E; Shaw, Pamela J; Al-Chalabi, Ammar; Brown, Robert H; Calvo, Andrea; Mora, Gabriele; Al-Saif, Hind; Gotkine, Marc; Leigh, Fawn; Chang, Irene J; Perlman, Seth J; Glass, Ian; Scott, Anna I; Shaw, Christopher E; Basak, A Nazli; Landers, John E; Chiò, Adriano; Crawford, Thomas O; Smith, Bradley N; Traynor, Bryan J; Smith, Bradley N; Ticozzi, Nicola; Fallini, Claudia; Gkazi, Athina Soragia; Topp, Simon D; Scotter, Emma L; Kenna, Kevin P; Keagle, Pamela; Tiloca, Cinzia; Vance, Caroline; Troakes, Claire; Colombrita, Claudia; King, Andrew; Pensato, Viviana; Castellotti, Barbara; Baas, Frank; Ten Asbroek, Anneloor L M A; McKenna-Yasek, Diane; Mclaughlin, Russell L; Polak, Meraida; Asress, Seneshaw; Esteban-Pérez, Jesús; Stevic, Zorica; D'Alfonso, Sandra; Mazzini, Letizia; Comi, Giacomo P; Del Bo, Roberto; Ceroni, Mauro; Gagliardi, Stella; Querin, Giorgia; Bertolin, Cinzia; van Rheenen, Wouter; Rademakers, Rosa; van Blitterswijk, Marka; Lauria, Giuseppe; Duga, Stefano; Corti, Stefania; Cereda, Cristina; Corrado, Lucia; Sorarù, Gianni; Williams, Kelly L; Nicholson, Garth A; Blair, Ian P; Leblond-Manry, Claire; Rouleau, Guy A; Hardiman, Orla; Morrison, Karen E; 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; Dalgard, Clifton L; Adeleye, Adelani; Soltis, Anthony R; Alba, Camille; Viollet, Coralie; Bacikova, Dagmar; Hupalo, Daniel N; Sukumar, Gauthaman; Pollard, Harvey B; Wilkerson, Matthew D; Martinez, Elisa McGrath; Abramzon, Yevgeniya; Ahmed, Sarah; Arepalli, Sampath; Baloh, Robert H; Bowser, Robert; Brady, Christopher B; Brice, Alexis; Broach, James; Campbell, Roy H; Camu, William; Chia, Ruth; Cooper-Knock, John; Ding, Jinhui; Drepper, Carsten; Drory, Vivian E; Dunckley, Travis L; Eicher, John D; England, Bryce K; Faghri, Faraz; Feldman, Eva; Floeter, Mary Kay; Fratta, Pietro; Geiger, Joshua T; Gerhard, Glenn; Gibbs, J Raphael; Gibson, Summer B; Glass, Jonathan D; Hardy, John; Harms, Matthew B; Heiman-Patterson, Terry D; Hernandez, Dena G; Jansson, Lilja; Kirby, Janine; Kowall, Neil W; Laaksovirta, Hannu; Landeck, Natalie; Landi, Francesco; Le Ber, Isabelle; Lumbroso, Serge; Macgowan, Daniel J L; Maragakis, Nicholas J; Mora, Gabriele; Mouzat, Kevin; Murphy, Natalie A; Myllykangas, Liisa; Nalls, Mike A; Orrell, Richard W; Ostrow, Lyle W; Pamphlett, Roger; Pickering-Brown, Stuart; Pioro, Erik P; Pletnikova, Olga; Pliner, Hannah A; Pulst, Stefan M; Ravits, John M; Renton, Alan E; Rivera, Alberto; Robberecht, Wim; Rogaeva, Ekaterina; Rollinson, Sara; Rothstein, Jeffrey D; Scholz, Sonja W; Sendtner, Michael; Shaw, Pamela J; Sidle, Katie C; Simmons, Zachary; Singleton, Andrew B; Smith, Nathan; Stone, David J; Tienari, Pentti J; Troncoso, Juan C; Valori, Miko; Van Damme, Philip; Van Deerlin, Vivianna M; Van Den Bosch, Ludo; Zinman, Lorne; Landers, John E; Chiò, Adriano; Traynor, Bryan J; Angelocola, Stefania M; Ausiello, Francesco P; Barberis, Marco; Bartolomei, Ilaria; Battistini, Stefania; Bersano, Enrica; Bisogni, Giulia; Borghero, Giuseppe; Brunetti, Maura; Cabona, Corrado; Calvo, Andrea; Canale, Fabrizio; Canosa, Antonio; Cantisani, Teresa A; Capasso, Margherita; Caponnetto, Claudia; Cardinali, Patrizio; Carrera, Paola; Casale, Federico; Chiò, Adriano; Colletti, Tiziana; Conforti, Francesca L; Conte, Amelia; Conti, Elisa; Corbo, Massimo; Cuccu, Stefania; Dalla Bella, Eleonora; D'Errico, Eustachio; Demarco, Giovanni; Dubbioso, Raffaele; Ferrarese, Carlo; Ferraro, Pilar M; Filippi, Massimo; Fini, Nicola; Floris, Gianluca; Fuda, Giuseppe; Gallone, Salvatore; Gianferrari, Giulia; Giannini, Fabio; Grassano, Maurizio; Greco, Anna Lucia; Iazzolino, Barbara; Introna, Alessandro; La Bella, Vincenzo; Lattante, Serena; Lauria, Giuseppe; Liguori, Rocco; Logroscino, Giancarlo; Logullo, Francesco O; Lunetta, Christian; Mandich, Paola; Mandrioli, Jessica; Manera, Umberto; Manganelli, Fiore; Marangi, Giuseppe; Marinou, Kalliopi; Marrosu, Maria Giovanna; Martinelli, Ilaria; Messina, Sonia; Moglia, Cristina; Mora, Gabriele; Mosca, Lorena; Murru, Maria R; Origone, Paola; Passaniti, Carla; Petrelli, Cristina; Petrucci, Antonio; Pozzi, Susanna; Pugliatti, Maura; Quattrini, Angelo; Ricci, Claudia; Riolo, Giulia; Riva, Nilo; Russo, Massimo; Sabatelli, Mario; Salamone, Paolina; Salivetto, Marco; Salvi, Fabrizio; Santarelli, Marialuisa; Sbaiz, Luca; Sideri, Riccardo; Simone, Isabella; Simonini, Cecilia; Spataro, Rossella; Tanel, Raffaella; Tedeschi, Gioacchino; Ticca, Anna; Torriello, Antonella; Tranquilli, Stefania; Tremolizzo, Lucio; Trojsi, Francesca; Vasta, Rosario; Vacchiano, Veria; Vita, Giuseppe; Volanti, Paolo; Zollino, Marcella; Zucchi, Elisabetta | |
| 1-gen-2021 | Targeting S100A4 with niclosamide attenuates inflammatory and profibrotic pathways in models of amyotrophic lateral sclerosis | Milani, M.; Mammarella, E.; Rossi, S.; Miele, C.; Lattante, Serena; Sabatelli, Mario; Cozzolino, M.; D'Ambrosi, N.; Apolloni, S. | |
| 1-gen-2021 | ORal anticoagulants In fraGile patients with percutAneous endoscopic gastrostoMy and atrIal fibrillation: the (ORIGAMI) study | D'Amario, Domenico; Galli, Mattia; Canonico, Francesco; Restivo, Attilio; Arcudi, Alessandra; Scacciavillani, Roberto; Cappannoli, Luigi; Riccioni, Maria Elena; Annetta, Maria Giuseppina; Di Stefano, G.; Piccinni, C.; Vergallo, Rocco; Montone, Rocco Antonio; Leone, Antonio Maria; Niccoli, Giampaolo; Sabatelli, Mario; Antonelli, Massimo; Andreotti, Felicita; De Cristofaro, Raimondo; Crea, Filippo | |
| 1-gen-2021 | Reassessing IVIg therapy in chronic inflammatory demyelinating polyradiculoneuropathy during COVID-19: a chance to verify the need for chronic maintenance therapy | Romozzi, Marina; Bisogni, G.; Sabatelli, Mario; Luigetti, Marco | |
| 1-gen-2021 | Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy | Magliano, Lorenza; Obici, Laura; Sforzini, Claudia; Mazzeo, Anna; Russo, Massimo; Cappelli, Francesco; Fenu, Silvia; Luigetti, Marco; Tagliapietra, Matteo; Gemelli, Chiara; Leonardi, Luca; Tozza, Stefano; Pradotto, Luca Guglielmo; Citarelli, Giulia; Mauro, Alessandro; Manganelli, Fiore; Antonini, Giovanni; Grandis, Marina; Fabrizi, Gian Maria; Sabatelli, Mario; Pareyson, Davide; Perfetto, Federico; Merlini, Giampaolo; Vita, Giuseppe | |
| 1-gen-2021 | A longitudinal study defined circulating microRNAs as reliable biomarkers for disease prognosis and progression in ALS human patients | Dobrowolny, G.; Martone, J.; Lepore, E.; Casola, I.; Petrucci, A.; Inghilleri, M.; Morlando, M.; Colantoni, A.; Scicchitano, Bianca Maria; Calvo, A.; Bisogni, G.; Chio, A.; Sabatelli, Mario; Bozzoni, I.; Musaro, A. | |
| 1-gen-2021 | Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant | Martello, F.; Lattante, S.; Doronzio, P. N.; Conte, A.; Bisogni, G.; Orteschi, D.; Pirozzi, F.; Sabatelli, M.; Zollino, M.; Marangi, G. | |
| 1-gen-2021 | Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein | D'Anzi, A.; Altieri, F.; Perciballi, E.; Ferrari, D.; Torres, B.; Bernardini, L.; Lattante, Serena; Sabatelli, Mario; Vescovi, A. L.; Rosati, J. | |
| 1-gen-2021 | Thr124Met myelin protein zero mutation mimicking motor neuron disease | Bisogni, G.; Romano, A.; Conte, A.; Tasca, Giorgio; Bernardo, D.; Luigetti, Marco; Di Paolantonio, Andrea; Fabrizi, G. M.; Patanella, A. K.; Meleo, Emiliana; Sabatelli, Mario | |
| 1-gen-2021 | SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration | Barbier, M.; Camuzat, A.; Hachimi, K. E.; Guegan, J.; Rinaldi, D.; Lattante, Serena; Houot, M.; Sanchez-Valle, R.; Sabatelli, Mario; Antonell, A.; Molina-Porcel, L.; Clot, F.; Couratier, P.; Van Der Ende, E.; Van Der Zee, J.; Manzoni, C.; Camu, W.; Cazeneuve, C.; Sellal, F.; Didic, M.; Golfier, V.; Pasquier, F.; Duyckaerts, C.; Rossi, G.; Bruni, A. C.; Alvarez, V.; Gomez-Tortosa, E.; De Mendonca, A.; Graff, C.; Masellis, M.; Nacmias, B.; Oumoussa, B. M.; Jornea, L.; Forlani, S.; Van Deerlin, V.; Rohrer, J. D.; Gelpi, E.; Rademakers, R.; Van Swieten, J.; Le Guern, E.; Van Broeckhoven, C.; Ferrari, R.; Genin, E.; Brice, A.; Le Ber, I. | |
| 1-gen-2020 | Pathological findings in chronic inflammatory demyelinating polyradiculoneuropathy: A single-center experience | Luigetti, Marco; Romano, Angela; Di Paolantonio, Andrea; Bisogni, G.; Rossi, Salvatore; Conte, A.; Madia, Francesca; Sabatelli, Mario |
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