Sabatelli, Mario
Sabatelli, Mario
ROMA - Dipartimento di Neuroscienze
Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients
2022-01-01 Perciballi, E.; Bovio, F.; Rosati, J.; Arrigoni, F.; D'anzi, A.; Lattante, S.; Gelati, M.; De Marchi, F.; Lombardi, I.; Ruotolo, G.; Forcella, M.; Mazzini, L.; D'alfonso, S.; Corrado, L.; Sabatelli, M.; 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?
2022-01-01 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
2022-01-01 Luigetti, M.; Di Paolantonio, A.; Guglielmino, V.; Romano, A.; Rossi, S.; Sabino, A.; Servidei, S.; Sabatelli, M.; Primiano, G.
A longitudinal study defined circulating microRNAs as reliable biomarkers for disease prognosis and progression in ALS human patients
2021-01-01 Dobrowolny, G.; Martone, J.; Lepore, E.; Casola, I.; Petrucci, A.; Inghilleri, M.; Morlando, M.; Colantoni, A.; Scicchitano, B. M.; Calvo, A.; Bisogni, G.; Chio, A.; Sabatelli, M.; 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.
2021-01-01 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
Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein
2021-01-01 D'Anzi, A.; Altieri, F.; Perciballi, E.; Ferrari, D.; Torres, B.; Bernardini, L.; Lattante, S.; Sabatelli, M.; Vescovi, A. L.; Rosati, J.
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis
2021-01-01 Lattante, Serena; Doronzio, Paolo Niccolò; 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
Ocular involvement in hereditary transthyretin amyloidosis: A case series describing novel potential biomarkers
2021-01-01 Minnella, A. M.; Rissotto, R.; Maceroni, M.; Romano, A.; Fasciani, R.; Luigetti, M.; Sabatelli, M.; Rizzo, S.; Falsini, B.
ORal anticoagulants In fraGile patients with percutAneous endoscopic gastrostoMy and atrIal fibrillation: the (ORIGAMI) study
2021-01-01 D'Amario, D.; Galli, M.; Canonico, F.; Restivo, A.; Arcudi, A.; Scacciavillani, R.; Cappannoli, L.; Riccioni, M. E.; Annetta, M. G.; Di Stefano, G.; Piccinni, C.; Vergallo, R.; Montone, R. A.; Leone, A. M.; Niccoli, G.; Sabatelli, M.; Antonelli, M.; Andreotti, F.; De Cristofaro, R.; Crea, F.
Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy
2021-01-01 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
Reassessing IVIg therapy in chronic inflammatory demyelinating polyradiculoneuropathy during COVID-19: a chance to verify the need for chronic maintenance therapy
2021-01-01 Romozzi, M.; Bisogni, G.; Sabatelli, M.; Luigetti, M.
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration
2021-01-01 Barbier, M.; Camuzat, A.; Hachimi, K. E.; Guegan, J.; Rinaldi, D.; Lattante, S.; Houot, M.; Sanchez-Valle, R.; Sabatelli, M.; 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.
Targeting S100A4 with niclosamide attenuates inflammatory and profibrotic pathways in models of amyotrophic lateral sclerosis
2021-01-01 Milani, M.; Mammarella, E.; Rossi, S.; Miele, C.; Lattante, S.; Sabatelli, M.; Cozzolino, M.; D'Ambrosi, N.; Apolloni, S.
Thr124Met myelin protein zero mutation mimicking motor neuron disease
2021-01-01 Bisogni, G.; Romano, A.; Conte, A.; Tasca, G.; Bernardo, D.; Luigetti, M.; Di Paolantonio, A.; Fabrizi, G. M.; Patanella, A. K.; Meleo, E.; Sabatelli, M.
ALS skin fibroblasts reveal oxidative stress and ERK1/2-mediated cytoplasmic localization of TDP-43
2020-01-01 Romano, Nicla; Catalani, Alessia; Lattante, Serena; Belardo, Antonio; Proietti, Silvia; Bertini, Laura; Silvestri, Federica; Catalani, Elisabetta; Cervia, Davide; Zolla, Lello; Sabatelli, Mario; Welshhans, Kristy; Ceci, Marcello
Antibodies to neurofascin, contactin-1, and contactin-associated protein 1 in CIDP: Clinical relevance of IgG isotype
2020-01-01 Cortese, A.; Lombardi, R.; Briani, C.; Callegari, I.; Benedetti, L.; Manganelli, F.; Luigetti, M.; Ferrari, S.; Clerici, A. M.; Marfia, G. A.; Rigamonti, A.; Carpo, M.; Fazio, R.; Corbo, M.; Mazzeo, A.; Giannini, F.; Cosentino, G.; Zardini, E.; Curro, R.; Gastaldi, M.; Vegezzi, E.; Alfonsi, E.; Berardinelli, A.; Kouton, L.; Manso, C.; Giannotta, C.; Doneddu, P.; Dacci, P.; Piccolo, L.; Ruiz, M.; Salvalaggio, A.; De Michelis, C.; Spina, E.; Topa, A.; Bisogni, G.; Romano, A.; Mariotto, S.; Mataluni, G.; Cerri, F.; Stancanelli, C.; Sabatelli, M.; Schenone, A.; Marchioni, E.; Lauria, G.; Nobile-Orazio, E.; Devaux, J.; Franciotta, D.
ATTRv amyloidosis Italian Registry: clinical and epidemiological data
2020-01-01 Russo, M.; Obici, L.; Bartolomei, I.; Cappelli, F.; Luigetti, M.; Fenu, S.; Cavallaro, T.; Chiappini, M. G.; Gemelli, C.; Pradotto, L. G.; Manganelli, F.; Leonardi, L.; My, F.; Sampaolo, S.; Briani, C.; Gentile, L.; Stancanelli, C.; Di Buduo, E.; Pacciolla, P.; Salvi, F.; Casagrande, S.; Bisogni, G.; Calabrese, D.; Vanoli, F.; Di Iorio, G.; Antonini, G.; Santoro, L.; Mauro, A.; Grandis, M.; Di Girolamo, M.; Fabrizi, G. M.; Pareyson, D.; Sabatelli, M.; Perfetto, F.; Rapezzi, C.; Merlini, G.; Mazzeo, A.; Vita, G.
Diagnosis and treatment of hereditary transthyretin amyloidosis (Hattr) polyneuropathy: Current perspectives on improving patient care
2020-01-01 Luigetti, M.; Romano, A.; Di Paolantonio, A.; Bisogni, G.; Sabatelli, M.
Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis
2020-01-01 De Lillo, A.; Pathak, G. A.; De Angelis, F.; Di Girolamo, M.; Luigetti, M.; Sabatelli, M.; Perfetto, F.; Frusconi, S.; Manfellotto, D.; Fuciarelli, M.; Polimanti, R.
Gastrointestinal Manifestations in Hereditary Transthyretin Amyloidosis: a Single-Centre Experience
2020-01-01 Luigetti, Marco; Tortora, Annalisa; Romano, Angela; Di Paolantonio, Andrea; Guglielmino, Valeria; Bisogni, Giulia; Gasbarrini, Antonio; Calabresi, Paolo; Sabatelli, Mario
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 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, S.; Gelati, M.; De Marchi, F.; Lombardi, I.; Ruotolo, G.; Forcella, M.; Mazzini, L.; D'alfonso, S.; Corrado, L.; Sabatelli, M.; 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 | 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 | 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, B. M.; Calvo, A.; Bisogni, G.; Chio, A.; Sabatelli, M.; 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 | 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, S.; Sabatelli, M.; Vescovi, A. L.; Rosati, J. | |
| 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 Niccolò; 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 | 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 | ORal anticoagulants In fraGile patients with percutAneous endoscopic gastrostoMy and atrIal fibrillation: the (ORIGAMI) study | D'Amario, D.; Galli, M.; Canonico, F.; Restivo, A.; Arcudi, A.; Scacciavillani, R.; Cappannoli, L.; Riccioni, M. E.; Annetta, M. G.; Di Stefano, G.; Piccinni, C.; Vergallo, R.; Montone, R. A.; Leone, A. M.; Niccoli, G.; Sabatelli, M.; Antonelli, M.; Andreotti, F.; De Cristofaro, R.; Crea, F. | |
| 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 | Reassessing IVIg therapy in chronic inflammatory demyelinating polyradiculoneuropathy during COVID-19: a chance to verify the need for chronic maintenance therapy | Romozzi, M.; Bisogni, G.; Sabatelli, M.; Luigetti, M. | |
| 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, S.; Houot, M.; Sanchez-Valle, R.; Sabatelli, M.; 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 | Targeting S100A4 with niclosamide attenuates inflammatory and profibrotic pathways in models of amyotrophic lateral sclerosis | Milani, M.; Mammarella, E.; Rossi, S.; Miele, C.; Lattante, S.; Sabatelli, M.; Cozzolino, M.; D'Ambrosi, N.; Apolloni, S. | |
| 1-gen-2021 | Thr124Met myelin protein zero mutation mimicking motor neuron disease | Bisogni, G.; Romano, A.; Conte, A.; Tasca, G.; Bernardo, D.; Luigetti, M.; Di Paolantonio, A.; Fabrizi, G. M.; Patanella, A. K.; Meleo, E.; Sabatelli, M. | |
| 1-gen-2020 | ALS skin fibroblasts reveal oxidative stress and ERK1/2-mediated cytoplasmic localization of TDP-43 | Romano, Nicla; Catalani, Alessia; Lattante, Serena; Belardo, Antonio; Proietti, Silvia; Bertini, Laura; Silvestri, Federica; Catalani, Elisabetta; Cervia, Davide; Zolla, Lello; Sabatelli, Mario; Welshhans, Kristy; Ceci, Marcello | |
| 1-gen-2020 | Antibodies to neurofascin, contactin-1, and contactin-associated protein 1 in CIDP: Clinical relevance of IgG isotype | Cortese, A.; Lombardi, R.; Briani, C.; Callegari, I.; Benedetti, L.; Manganelli, F.; Luigetti, M.; Ferrari, S.; Clerici, A. M.; Marfia, G. A.; Rigamonti, A.; Carpo, M.; Fazio, R.; Corbo, M.; Mazzeo, A.; Giannini, F.; Cosentino, G.; Zardini, E.; Curro, R.; Gastaldi, M.; Vegezzi, E.; Alfonsi, E.; Berardinelli, A.; Kouton, L.; Manso, C.; Giannotta, C.; Doneddu, P.; Dacci, P.; Piccolo, L.; Ruiz, M.; Salvalaggio, A.; De Michelis, C.; Spina, E.; Topa, A.; Bisogni, G.; Romano, A.; Mariotto, S.; Mataluni, G.; Cerri, F.; Stancanelli, C.; Sabatelli, M.; Schenone, A.; Marchioni, E.; Lauria, G.; Nobile-Orazio, E.; Devaux, J.; Franciotta, D. | |
| 1-gen-2020 | ATTRv amyloidosis Italian Registry: clinical and epidemiological data | Russo, M.; Obici, L.; Bartolomei, I.; Cappelli, F.; Luigetti, M.; Fenu, S.; Cavallaro, T.; Chiappini, M. G.; Gemelli, C.; Pradotto, L. G.; Manganelli, F.; Leonardi, L.; My, F.; Sampaolo, S.; Briani, C.; Gentile, L.; Stancanelli, C.; Di Buduo, E.; Pacciolla, P.; Salvi, F.; Casagrande, S.; Bisogni, G.; Calabrese, D.; Vanoli, F.; Di Iorio, G.; Antonini, G.; Santoro, L.; Mauro, A.; Grandis, M.; Di Girolamo, M.; Fabrizi, G. M.; Pareyson, D.; Sabatelli, M.; Perfetto, F.; Rapezzi, C.; Merlini, G.; Mazzeo, A.; Vita, G. | |
| 1-gen-2020 | Diagnosis and treatment of hereditary transthyretin amyloidosis (Hattr) polyneuropathy: Current perspectives on improving patient care | Luigetti, M.; Romano, A.; Di Paolantonio, A.; Bisogni, G.; Sabatelli, M. | |
| 1-gen-2020 | Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis | De Lillo, A.; Pathak, G. A.; De Angelis, F.; Di Girolamo, M.; Luigetti, M.; Sabatelli, M.; Perfetto, F.; Frusconi, S.; Manfellotto, D.; Fuciarelli, M.; Polimanti, R. | |
| 1-gen-2020 | Gastrointestinal Manifestations in Hereditary Transthyretin Amyloidosis: a Single-Centre Experience | Luigetti, Marco; Tortora, Annalisa; Romano, Angela; Di Paolantonio, Andrea; Guglielmino, Valeria; Bisogni, Giulia; Gasbarrini, Antonio; Calabresi, Paolo; Sabatelli, Mario |