Sfoglia per Autore
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
Early detection of nerve involvement in presymptomatic TTR mutation carriers: exploring potential markers of disease onset
2024 Romano, Angela; Guglielmino, Valeria; Bisogni, Paolo Gaetano; Di Paolantonio, Andrea; Truini, A.; Minnella, Angelo Maria; Sciarrone, Maria Ausilia; Vitali, Francesca; Maceroni, Martina; Galosi, E.; Sabatelli, Mario; Luigetti, Marco
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
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
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
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
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
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
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.
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
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.
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.
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
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.
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
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
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.
Data di pubblicazione | Titolo | Autore(i) | File |
---|---|---|---|
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-2024 | Early detection of nerve involvement in presymptomatic TTR mutation carriers: exploring potential markers of disease onset | Romano, Angela; Guglielmino, Valeria; Bisogni, Paolo Gaetano; Di Paolantonio, Andrea; Truini, A.; Minnella, Angelo Maria; Sciarrone, Maria Ausilia; Vitali, Francesca; Maceroni, Martina; Galosi, E.; Sabatelli, Mario; Luigetti, Marco | |
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-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 | 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 | 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-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 | 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 | 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 | 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-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 | 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-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 | 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 | 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 | 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 | 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. |
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