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
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
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
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
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.
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.
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
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
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.
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
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.
Clinical Heterogeneity of ALS-Implications for Models and Therapeutic Development
2021 Lattante, Serena; Sabatelli, Mario
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
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.
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
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.
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 | 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-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 | 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 | 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 | 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 | 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 | 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 | 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-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 | 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-2021 | Clinical Heterogeneity of ALS-Implications for Models and Therapeutic Development | Lattante, Serena; Sabatelli, Mario | |
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 | 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 | 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 | 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. |
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