Sabatelli, Mario
Sabatelli, Mario
ROMA - Dipartimento di Neuroscienze
Early detection of nerve involvement in presymptomatic TTR mutation carriers: exploring potential markers of disease onset
2024 Romano, Angela; Guglielmino, Valeria; Bisogni, Giulia; Di Paolantonio, Andrea; Truini, A.; Minnella, Angelo Maria; Sciarrone, Maria Ausilia; Vitali, Francesca; Maceroni, Martina; Galosi, E.; Sabatelli, Mario; Luigetti, Marco
Hospital admissions from the emergency department of adult patients affected by myopathies
2024 Monforte, Mauro; Torchia, Eleonora; Bortolani, Sara; Ravera, Beatrice; Ricci, Enzo; Silvestri, Gabriella; Servidei, Serenella; Primiano, Guido Alessandro; Mirabella, Massimiliano; Sabatelli, Mario; Mercuri, Eugenio Maria; Franceschi, Francesco; Calabresi, Paolo; Covino, Marcello; Tasca, Giorgio
Analysis of STMN2 CA repeats in italian ALS patients shows no association
2023 Doronzio, Paolo Niccolo'; Lattante, Serena; Marangi, Giuseppe; Martello, Francesco; Conte, A.; Bisogni, G.; Bernardo, D.; Patanella, A. K.; Meleo, Emiliana; Zollino, Marcella; Sabatelli, Mario
Characterization of SOD1-DT, a Divergent Long Non-Coding RNA in the Locus of the SOD1 Human Gene
2023 Guerra, Marika; Meola, Lucia; Lattante, Serena; Conte, Amelia; Sabatelli, Mario; Sette, Claudio; Bernardini, Camilla
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis
2023 Lattante, Serena; Sabatelli, Mario; Bisogni, Giulia.; Marangi, Giuseppe; Doronzio, Paolo Niccolò; Martello, Francesco; Renzi, Anna Gloria; Del Giudice, Elda; Leon, Alberta; Cimbolli, Paola; Marchione, Daniela; Costantino, Umberto; Lucioli, Gabriele; Bernardo, Daniela; Meleo, Emiliana; Patanella, Agata Katia; Romano, Angela; Zollino, Marcella; Conte, Amelia
The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations
2023 Canosa, Antonio; Calvo, Andrea; Mora, Gabriele; Moglia, Cristina; Brunetti, Maura; Barberis, Marco; Borghero, Giuseppe; Caponnetto, Claudia; Trojsi, Francesca; Spataro, Rossella; Volanti, Paolo; Simone, Isabella Laura; Salvi, Fabrizio; Logullo, Francesco Ottavio; Riva, Nilo; Tremolizzo, Lucio; Giannini, Fabio; Mandrioli, Jessica; Tanel, Raffaella; Murru, Maria Rita; Mandich, Paola; Conforti, Francesca Luisa; Zollino, Marcella; Sabatelli, Mario; Tarlarini, Claudia; Lunetta, Christian; Mazzini, Letizia; D'Alfonso, Sandra; Guy, Nathalie; Meininger, Vincent; Clavelou, Pierre; Camu, William; Chiò, Adriano; On Behalf Of Italsgen Consortium, Null
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.
Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients
2022 Perciballi, E.; Bovio, F.; Rosati, J.; Arrigoni, F.; D'Anzi, A.; Lattante, Serena; Gelati, M.; De Marchi, F.; Lombardi, I.; Ruotolo, G.; Forcella, M.; Mazzini, L.; D'Alfonso, S.; Corrado, L.; Sabatelli, Mario; Conte, A.; De Gioia, L.; Martino, S.; Vescovi, A. L.; Fusi, P.; Ferrari, D.
Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia
2022 Martello, Francesco; Lattante, Serena; Doronzio, Paolo Niccolo'; Conte, A.; Bisogni, G.; Orteschi, D.; Luigetti, Marco; Marrucci, M. A.; Zollino, Marcella; Sabatelli, Mario; Marangi, Giuseppe
Guillain–Barré syndrome from an emergency department view: how to better predict the outcome?
2022 Covino, Marcello; Romozzi, Marina; Simeoni, Benedetta; Di Paolantonio, Andrea; Sabatelli, Mario; Franceschi, Francesco; Luigetti, Marco
Neurofilament light chain as a disease severity biomarker in ATTRv: data from a single-centre experience
2022 Luigetti, M.; Di Paolantonio, A.; Guglielmino, V.; Romano, A.; Rossi, S.; Sabino, A.; Servidei, S.; Sabatelli, M.; Primiano, G.
Pupillometric findings in ATTRv patients and carriers: results from a single-centre experience
2022 Romano, Angela; Guglielmino, Valeria; Di Paolantonio, Andrea; Bisogni, Giulia; Sabatelli, Mario; Della Marca, Giacomo; Minnella, Angelo Maria; Maceroni, Martina; Bellavia, Simone; Scala, Irene; Sabatelli, Eleonora; Rollo, Eleonora; Luigetti, Marco
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
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.
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
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
Clinical Heterogeneity of ALS-Implications for Models and Therapeutic Development
2021 Lattante, Serena; Sabatelli, Mario
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.
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.
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
Data di pubblicazione | Titolo | Autore(i) | File |
---|---|---|---|
1-gen-2024 | Early detection of nerve involvement in presymptomatic TTR mutation carriers: exploring potential markers of disease onset | Romano, Angela; Guglielmino, Valeria; Bisogni, Giulia; Di Paolantonio, Andrea; Truini, A.; Minnella, Angelo Maria; Sciarrone, Maria Ausilia; Vitali, Francesca; Maceroni, Martina; Galosi, E.; Sabatelli, Mario; Luigetti, Marco | |
1-gen-2024 | Hospital admissions from the emergency department of adult patients affected by myopathies | Monforte, Mauro; Torchia, Eleonora; Bortolani, Sara; Ravera, Beatrice; Ricci, Enzo; Silvestri, Gabriella; Servidei, Serenella; Primiano, Guido Alessandro; Mirabella, Massimiliano; Sabatelli, Mario; Mercuri, Eugenio Maria; Franceschi, Francesco; Calabresi, Paolo; Covino, Marcello; Tasca, Giorgio | |
1-gen-2023 | Analysis of STMN2 CA repeats in italian ALS patients shows no association | Doronzio, Paolo Niccolo'; Lattante, Serena; Marangi, Giuseppe; Martello, Francesco; Conte, A.; Bisogni, G.; Bernardo, D.; Patanella, A. K.; Meleo, Emiliana; Zollino, Marcella; Sabatelli, Mario | |
1-gen-2023 | Characterization of SOD1-DT, a Divergent Long Non-Coding RNA in the Locus of the SOD1 Human Gene | Guerra, Marika; Meola, Lucia; Lattante, Serena; Conte, Amelia; Sabatelli, Mario; Sette, Claudio; Bernardini, Camilla | |
1-gen-2023 | Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis | Lattante, Serena; Sabatelli, Mario; Bisogni, Giulia.; Marangi, Giuseppe; Doronzio, Paolo Niccolò; Martello, Francesco; Renzi, Anna Gloria; Del Giudice, Elda; Leon, Alberta; Cimbolli, Paola; Marchione, Daniela; Costantino, Umberto; Lucioli, Gabriele; Bernardo, Daniela; Meleo, Emiliana; Patanella, Agata Katia; Romano, Angela; Zollino, Marcella; Conte, Amelia | |
1-gen-2023 | The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations | Canosa, Antonio; Calvo, Andrea; Mora, Gabriele; Moglia, Cristina; Brunetti, Maura; Barberis, Marco; Borghero, Giuseppe; Caponnetto, Claudia; Trojsi, Francesca; Spataro, Rossella; Volanti, Paolo; Simone, Isabella Laura; Salvi, Fabrizio; Logullo, Francesco Ottavio; Riva, Nilo; Tremolizzo, Lucio; Giannini, Fabio; Mandrioli, Jessica; Tanel, Raffaella; Murru, Maria Rita; Mandich, Paola; Conforti, Francesca Luisa; Zollino, Marcella; Sabatelli, Mario; Tarlarini, Claudia; Lunetta, Christian; Mazzini, Letizia; D'Alfonso, Sandra; Guy, Nathalie; Meininger, Vincent; Clavelou, Pierre; Camu, William; Chiò, Adriano; On Behalf Of Italsgen Consortium, Null | |
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-2022 | Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients | Perciballi, E.; Bovio, F.; Rosati, J.; Arrigoni, F.; D'Anzi, A.; Lattante, Serena; Gelati, M.; De Marchi, F.; Lombardi, I.; Ruotolo, G.; Forcella, M.; Mazzini, L.; D'Alfonso, S.; Corrado, L.; Sabatelli, Mario; Conte, A.; De Gioia, L.; Martino, S.; Vescovi, A. L.; Fusi, P.; Ferrari, D. | |
1-gen-2022 | Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia | Martello, Francesco; Lattante, Serena; Doronzio, Paolo Niccolo'; Conte, A.; Bisogni, G.; Orteschi, D.; Luigetti, Marco; Marrucci, M. A.; Zollino, Marcella; Sabatelli, Mario; Marangi, Giuseppe | |
1-gen-2022 | Guillain–Barré syndrome from an emergency department view: how to better predict the outcome? | Covino, Marcello; Romozzi, Marina; Simeoni, Benedetta; Di Paolantonio, Andrea; Sabatelli, Mario; Franceschi, Francesco; Luigetti, Marco | |
1-gen-2022 | Neurofilament light chain as a disease severity biomarker in ATTRv: data from a single-centre experience | Luigetti, M.; Di Paolantonio, A.; Guglielmino, V.; Romano, A.; Rossi, S.; Sabino, A.; Servidei, S.; Sabatelli, M.; Primiano, G. | |
1-gen-2022 | Pupillometric findings in ATTRv patients and carriers: results from a single-centre experience | Romano, Angela; Guglielmino, Valeria; Di Paolantonio, Andrea; Bisogni, Giulia; Sabatelli, Mario; Della Marca, Giacomo; Minnella, Angelo Maria; Maceroni, Martina; Bellavia, Simone; Scala, Irene; Sabatelli, Eleonora; Rollo, Eleonora; Luigetti, Marco | |
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-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 | 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 | 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 | Clinical Heterogeneity of ALS-Implications for Models and Therapeutic Development | Lattante, Serena; Sabatelli, Mario | |
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 | 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 | 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 |