Long term follow-up of scoliosis progression in type II SMA patients
2022-01-01 Coratti, Giorgia; Pera, Maria Carmela; D'Amico, Adele; Bruno, Claudio; Bovis, Francesca; Gullì, Consolato; Brolatti, Noemi; Pedemonte, Marina; Apicella, Massimo; Antonaci, Laura; Ricci, Martina; Capasso, Anna; Cicala, Gianpaolo; Cutrona, Costanza; de Sanctis, Roberto; Carnicella, Sara; Forcina, Nicola; Catteruccia, Michela; Damasio, Maria Beatrice; Labianca, Luca; Leone, Antonio; Bertini, Enrico; Pane, Marika; Mercuri, Eugenio
Gain and loss of abilities in type II SMA: A 12-month natural history study
2020-01-01 Coratti, G.; Lucibello, S.; Pera, M. C.; Duong, T.; Muni Lofra, R.; Civitello, M.; D'Amico, A.; Goemans, N.; Darras, B. T.; Bruno, C.; Sansone, V. A.; Day, J.; Nascimento Osorio, A.; Muntoni, F.; Montes, J.; Sframeli, M.; Finkel, R.; Mercuri, E.
Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study
2024-01-01 Coratti, Giorgia; Bovis, Francesca; Pera, Maria Carmela; Scoto, Mariacristina; Montes, Jacqueline; Pasternak, Amy; Mayhew, Anna; Muni-Lofra, Robert; Duong, Tina; Rohwer, Annemarie; Dunaway Young, Sally; Civitello, Matthew; Salmin, Francesca; Mizzoni, Irene; Morando, Simone; Pane, Marika; Albamonte, Emilio; D'Amico, Adele; Brolatti, Noemi; Sframeli, Maria; Marini-Bettolo, Chiara; Sansone, Valeria Ada; Bruno, Claudio; Messina, Sonia; Bertini, Enrico; Baranello, Giovanni; Day, John; Darras, Basil T; De Vivo, Darryl C; Hirano, Michio; Muntoni, Francesco; Finkel, Richard; Mercuri, Eugenio
1st Italian SMA Family Association Consensus Meeting: Management and recommendations for respiratory involvement in spinal muscular atrophy (SMA) types I-III, Rome, Italy, 30-31 January 2015
2015-01-01 Sansone, V A; Racca, F; Ottonello, G; Vianello, A; Berardinelli, A; Crescimanno, G; Casiraghi, J L; Pera, MARIA CARMELA
Epileptic Encephalopathies with Status Epilepticus during Sleep: New Techniques for Understanding Pathophysiology and Therapeutic Options
2012-01-01 Brazzo, Daniela; Pera, Maria Carmela; Fasce, Marco; Papalia, Grazia; Balottin, Umberto; Veggiotti, Pierangelo
Therapy of encephalopathy with status epilepticus during sleep (ESES/CSWS syndrome): an update
2012-01-01 Veggiotti, Pierangelo; Pera, Maria Carmela; Teutonico, Federica; Brazzo, Daniela; Balottin, Umberto; Tassinari, Carlo Alberto
Age and baseline values predict 12 and 24-month functional changes in type 2 SMA
2020-01-01 Coratti, G.; Pera, M. C.; Lucibello, S.; Montes, J.; Pasternak, A.; Mayhew, A.; Glanzman, A. M.; Young, S. D.; Pane, M.; Scoto, M.; Messina, S.; Goemans, N.; Osorio, A. N.; Pedemonte, M.; Sansone, V.; Bertini, E.; De Vivo, D. C.; Finkel, R.; Muntoni, F.; Mercuri, E.
Long-term evolution of neuropsychological competences in encephalopathy with status epilepticus during sleep: a variable prognosis
2013-01-01 Pera, Maria C; Brazzo, Daniela; Altieri, Nausicaa; Balottin, Umberto; Veggiotti, Pierangelo
Assessing floppy infants: a new module
2022-01-01 Cutrona, C.; Pede, E.; De Sanctis, R.; Coratti, G.; Tiberi, E.; Luciano, R.; Pera, M. C.; Velli, C.; Capasso, A.; Vento, G.; Romeo, D. M.; Pane, M.; Mercuri, E.
Developmental milestones in type I spinal muscular atrophy
2016-01-01 De Sanctis, Roberto; Coratti, Giorgia; Pasternak, Amy; Montes, Jacqueline; Pane, Marika; Mazzone, Elena Stacy; Young, Sally Dunaway; Salazar, Rachel; Quigley, Janet; Pera, Maria Carmela; Antonaci, Laura; Lapenta, Leonardo; Glanzman, Allan M.; Tiziano, Francesco Danilo; Muntoni, Francesco; Darras, Basil T.; De Vivo, Darryl C.; Finkel, Richard; Mercuri, Eugenio Maria
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial
2021-01-01 Mercuri, Eugenio; Muntoni, Francesco; Baranello, Giovanni; Masson, Riccardo; Boespflug-Tanguy, Odile; Bruno, Claudio; Corti, Stefania; Daron, Aurore; Deconinck, Nicolas; Servais, Laurent; Straub, Volker; Ouyang, Haojun; Chand, Deepa; Tauscher-Wisniewski, Sitra; Mendonca, Nuno; Lavrov, Arseniy; Pera, MARIA CARMELA
Patient and parent oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in SMA. Rome, 13 July 2019
2020-01-01 Mercuri, E.; Messina, S.; Montes, J.; Muntoni, F.; Sansone, V. A.; Antonaci, L.; Civitello, M.; Coratti, G.; Lemus, M. D.; Sanctis, R. D.; Avexis, M. D.; Duong, T.; Finkel, R.; Frongia, A. L.; Roche, K. G.; Heatwole, C.; Gusset, N.; Henricson, E.; Mayhew, A.; Pasternak, A.; Pechmann, A.; Pera, M. C.; Rubino, I.; Sansone, V.; Schroth, M.; Trundell, D.; Straub, V.; Marchesi, C.
Predominant distal muscle involvement in spinal muscular atrophy
2019-01-01 Brogna, C; Cristiano, L; Verdolotti, T; Ficociello, L; Pera, Mc; Antonaci, L; De Sanctis, R; Pichiecchio, A; Cinnante, Cm; Tartaglione, T; Colosimo, C; Pane, M; Mercuri, E.
MRI substrates of sustained attention system and cognitive impairment in pediatric MS patients
2017-01-01 De Meo, Ermelinda; Moiola, Lucia; Ghezzi, Angelo; Veggiotti, Pierangelo; Capra, Ruggero; Pia Amato, Maria; Pagani, Elisabetta; Fiorino, Agnese; Pippolo, Lorena; Pera, Maria C.; Comi, Giancarlo; Falini, Andrea; Filippi, Massimo; Rocca, Maria A.
Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standars of Care?
2015-01-01 Bianco, Flaviana; Pane, Marika; D'Amico, Adele; Messina, Sonia; Delogu, Angelica Bibiana; Soraru, Gianni; Pera, Maria Carmela; Mongini, Tiziana; Politano, Luisa; Baranello, Giovanni; Vita, Gianluca; Tiziano, Francesco Danilo; Morandi, Lucia; Bertini, Enrico; Mercuri, Eugenio Maria
Type I SMA “new natural history”: long-term data in nusinersen-treated patients
2021-01-01 Pane, M.; Coratti, G.; Sansone, V. A.; Messina, S.; Catteruccia, M.; Bruno, C.; Sframeli, M.; Albamonte, E.; Pedemonte, M.; D'Amico, A.; Bravetti, C.; Berti, B.; Palermo, C.; Leone, D.; Brigati, G.; Tacchetti, P.; Salmin, F.; De Sanctis, R.; Lucibello, S.; Pera, M. C.; Piastra, M.; Genovese, O.; Bertini, E.; Vita, G.; Tiziano, F. D.; Mercuri, E.
Clinical Variability in Spinal Muscular Atrophy Type III
2020-01-01 Coratti, G; Messina, S; Lucibello, S; Pera, Mc; Montes, J; Pasternak, A; Bovis, F; Exposito Escudero, J; Mazzone, Es; Mayhew, A; Glanzman, Am; Young, Sd; Salazar, R; Duong, T; Muni Lofra, R; De Sanctis, R; Carnicella, S; Milev, E; Civitello, M; Pane, M; Scoto, M; Bettolo, Cm; Antonaci, L; Frongia, A; Sframeli, M; Vita, Gl; D'Amico, A; Van Den Hauwe, M; Albamonte, E; Goemans, N; Darras, Bt; Bertini, E; Sansone, V; Day, J; Nascimento Osorio, A; Bruno, C; Muntoni, F; De Vivo, Dc; Finkel, Rs; Mercuri, E.
Old measures and new scores in spinal muscular atrophy patients
2015-01-01 Mazzone, Elena; Montes, Jacqueline; Main, Marion; Mayhew, Anna; Ramsey, Danielle; Glanzman, Allan M; Dunaway, Sally; Salazar, Rachel; Pasternak, Amy; Quigley, Janet; Pane, Marika; Pera, Maria C; Scoto, Mariacristina; Messina, Sonia; Sframeli, Maria; D'Amico, Adele; Van Den Hauwe, Marleen; Sivo, Serena; Goemans, Nathalie; Darras, Basil T; Kaufmann, Petra; Bertini, Enrico; De Vivo, Darryl C; Muntoni, Francesco; Finkel, Richard; Mercuri, Eugenio
Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo-controlled, dose-finding trial followed by 24 months of treatment
2022-01-01 Mercuri, Eugenio; Baranello, Giovanni; Boespflug-Tanguy, Odile; De Waele, Liesbeth; Goemans, Nathalie; Kirschner, Janbernd; Masson, Riccardo; Mazzone, Elena S; Pechmann, Astrid; Pera, Maria Carmela; Vuillerot, Carole; Bader-Weder, Silvia; Gerber, Marianne; Gorni, Ksenija; Hoffart, Janine; Kletzl, Heidemarie; Martin, Carmen; Mciver, Tammy; Scalco, Renata S; Yeung, Wai Yin; Servais, Laurent
Revised north star ambulatory assessment for young boys with Duchenne muscular dystrophy
2016-01-01 Mercuri, Eugenio Maria; Coratti, Giorgia; Messina, Sonia; Ricotti, Valeria; Baranello, Giovanni; D'Amico, Adele; Pera, Maria Carmela; Albamonte, Emilio; Sivo, Serena; Mazzone, Elena Stacy; Arnoldi, Maria Teresa; Fanelli, Lavinia; De Sanctis, Roberto; Romeo, Domenico Marco; Vita, Gian Luca; Battini, Roberta; Bertini, Enrico Silvio; Muntoni, Francesco; Pane, Marika
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Long term follow-up of scoliosis progression in type II SMA patients | 1-gen-2022 | Coratti, Giorgia; Pera, Maria Carmela; D'Amico, Adele; Bruno, Claudio; Bovis, Francesca; Gullì, Consolato; Brolatti, Noemi; Pedemonte, Marina; Apicella, Massimo; Antonaci, Laura; Ricci, Martina; Capasso, Anna; Cicala, Gianpaolo; Cutrona, Costanza; de Sanctis, Roberto; Carnicella, Sara; Forcina, Nicola; Catteruccia, Michela; Damasio, Maria Beatrice; Labianca, Luca; Leone, Antonio; Bertini, Enrico; Pane, Marika; Mercuri, Eugenio | |
| Gain and loss of abilities in type II SMA: A 12-month natural history study | 1-gen-2020 | Coratti, G.; Lucibello, S.; Pera, M. C.; Duong, T.; Muni Lofra, R.; Civitello, M.; D'Amico, A.; Goemans, N.; Darras, B. T.; Bruno, C.; Sansone, V. A.; Day, J.; Nascimento Osorio, A.; Muntoni, F.; Montes, J.; Sframeli, M.; Finkel, R.; Mercuri, E. | |
| Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study | 1-gen-2024 | Coratti, Giorgia; Bovis, Francesca; Pera, Maria Carmela; Scoto, Mariacristina; Montes, Jacqueline; Pasternak, Amy; Mayhew, Anna; Muni-Lofra, Robert; Duong, Tina; Rohwer, Annemarie; Dunaway Young, Sally; Civitello, Matthew; Salmin, Francesca; Mizzoni, Irene; Morando, Simone; Pane, Marika; Albamonte, Emilio; D'Amico, Adele; Brolatti, Noemi; Sframeli, Maria; Marini-Bettolo, Chiara; Sansone, Valeria Ada; Bruno, Claudio; Messina, Sonia; Bertini, Enrico; Baranello, Giovanni; Day, John; Darras, Basil T; De Vivo, Darryl C; Hirano, Michio; Muntoni, Francesco; Finkel, Richard; Mercuri, Eugenio | |
| 1st Italian SMA Family Association Consensus Meeting: Management and recommendations for respiratory involvement in spinal muscular atrophy (SMA) types I-III, Rome, Italy, 30-31 January 2015 | 1-gen-2015 | Sansone, V A; Racca, F; Ottonello, G; Vianello, A; Berardinelli, A; Crescimanno, G; Casiraghi, J L; Pera, MARIA CARMELA | |
| Epileptic Encephalopathies with Status Epilepticus during Sleep: New Techniques for Understanding Pathophysiology and Therapeutic Options | 1-gen-2012 | Brazzo, Daniela; Pera, Maria Carmela; Fasce, Marco; Papalia, Grazia; Balottin, Umberto; Veggiotti, Pierangelo | |
| Therapy of encephalopathy with status epilepticus during sleep (ESES/CSWS syndrome): an update | 1-gen-2012 | Veggiotti, Pierangelo; Pera, Maria Carmela; Teutonico, Federica; Brazzo, Daniela; Balottin, Umberto; Tassinari, Carlo Alberto | |
| Age and baseline values predict 12 and 24-month functional changes in type 2 SMA | 1-gen-2020 | Coratti, G.; Pera, M. C.; Lucibello, S.; Montes, J.; Pasternak, A.; Mayhew, A.; Glanzman, A. M.; Young, S. D.; Pane, M.; Scoto, M.; Messina, S.; Goemans, N.; Osorio, A. N.; Pedemonte, M.; Sansone, V.; Bertini, E.; De Vivo, D. C.; Finkel, R.; Muntoni, F.; Mercuri, E. | |
| Long-term evolution of neuropsychological competences in encephalopathy with status epilepticus during sleep: a variable prognosis | 1-gen-2013 | Pera, Maria C; Brazzo, Daniela; Altieri, Nausicaa; Balottin, Umberto; Veggiotti, Pierangelo | |
| Assessing floppy infants: a new module | 1-gen-2022 | Cutrona, C.; Pede, E.; De Sanctis, R.; Coratti, G.; Tiberi, E.; Luciano, R.; Pera, M. C.; Velli, C.; Capasso, A.; Vento, G.; Romeo, D. M.; Pane, M.; Mercuri, E. | |
| Developmental milestones in type I spinal muscular atrophy | 1-gen-2016 | De Sanctis, Roberto; Coratti, Giorgia; Pasternak, Amy; Montes, Jacqueline; Pane, Marika; Mazzone, Elena Stacy; Young, Sally Dunaway; Salazar, Rachel; Quigley, Janet; Pera, Maria Carmela; Antonaci, Laura; Lapenta, Leonardo; Glanzman, Allan M.; Tiziano, Francesco Danilo; Muntoni, Francesco; Darras, Basil T.; De Vivo, Darryl C.; Finkel, Richard; Mercuri, Eugenio Maria | |
| Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial | 1-gen-2021 | Mercuri, Eugenio; Muntoni, Francesco; Baranello, Giovanni; Masson, Riccardo; Boespflug-Tanguy, Odile; Bruno, Claudio; Corti, Stefania; Daron, Aurore; Deconinck, Nicolas; Servais, Laurent; Straub, Volker; Ouyang, Haojun; Chand, Deepa; Tauscher-Wisniewski, Sitra; Mendonca, Nuno; Lavrov, Arseniy; Pera, MARIA CARMELA | |
| Patient and parent oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in SMA. Rome, 13 July 2019 | 1-gen-2020 | Mercuri, E.; Messina, S.; Montes, J.; Muntoni, F.; Sansone, V. A.; Antonaci, L.; Civitello, M.; Coratti, G.; Lemus, M. D.; Sanctis, R. D.; Avexis, M. D.; Duong, T.; Finkel, R.; Frongia, A. L.; Roche, K. G.; Heatwole, C.; Gusset, N.; Henricson, E.; Mayhew, A.; Pasternak, A.; Pechmann, A.; Pera, M. C.; Rubino, I.; Sansone, V.; Schroth, M.; Trundell, D.; Straub, V.; Marchesi, C. | |
| Predominant distal muscle involvement in spinal muscular atrophy | 1-gen-2019 | Brogna, C; Cristiano, L; Verdolotti, T; Ficociello, L; Pera, Mc; Antonaci, L; De Sanctis, R; Pichiecchio, A; Cinnante, Cm; Tartaglione, T; Colosimo, C; Pane, M; Mercuri, E. | |
| MRI substrates of sustained attention system and cognitive impairment in pediatric MS patients | 1-gen-2017 | De Meo, Ermelinda; Moiola, Lucia; Ghezzi, Angelo; Veggiotti, Pierangelo; Capra, Ruggero; Pia Amato, Maria; Pagani, Elisabetta; Fiorino, Agnese; Pippolo, Lorena; Pera, Maria C.; Comi, Giancarlo; Falini, Andrea; Filippi, Massimo; Rocca, Maria A. | |
| Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standars of Care? | 1-gen-2015 | Bianco, Flaviana; Pane, Marika; D'Amico, Adele; Messina, Sonia; Delogu, Angelica Bibiana; Soraru, Gianni; Pera, Maria Carmela; Mongini, Tiziana; Politano, Luisa; Baranello, Giovanni; Vita, Gianluca; Tiziano, Francesco Danilo; Morandi, Lucia; Bertini, Enrico; Mercuri, Eugenio Maria | |
| Type I SMA “new natural history”: long-term data in nusinersen-treated patients | 1-gen-2021 | Pane, M.; Coratti, G.; Sansone, V. A.; Messina, S.; Catteruccia, M.; Bruno, C.; Sframeli, M.; Albamonte, E.; Pedemonte, M.; D'Amico, A.; Bravetti, C.; Berti, B.; Palermo, C.; Leone, D.; Brigati, G.; Tacchetti, P.; Salmin, F.; De Sanctis, R.; Lucibello, S.; Pera, M. C.; Piastra, M.; Genovese, O.; Bertini, E.; Vita, G.; Tiziano, F. D.; Mercuri, E. | |
| Clinical Variability in Spinal Muscular Atrophy Type III | 1-gen-2020 | Coratti, G; Messina, S; Lucibello, S; Pera, Mc; Montes, J; Pasternak, A; Bovis, F; Exposito Escudero, J; Mazzone, Es; Mayhew, A; Glanzman, Am; Young, Sd; Salazar, R; Duong, T; Muni Lofra, R; De Sanctis, R; Carnicella, S; Milev, E; Civitello, M; Pane, M; Scoto, M; Bettolo, Cm; Antonaci, L; Frongia, A; Sframeli, M; Vita, Gl; D'Amico, A; Van Den Hauwe, M; Albamonte, E; Goemans, N; Darras, Bt; Bertini, E; Sansone, V; Day, J; Nascimento Osorio, A; Bruno, C; Muntoni, F; De Vivo, Dc; Finkel, Rs; Mercuri, E. | |
| Old measures and new scores in spinal muscular atrophy patients | 1-gen-2015 | Mazzone, Elena; Montes, Jacqueline; Main, Marion; Mayhew, Anna; Ramsey, Danielle; Glanzman, Allan M; Dunaway, Sally; Salazar, Rachel; Pasternak, Amy; Quigley, Janet; Pane, Marika; Pera, Maria C; Scoto, Mariacristina; Messina, Sonia; Sframeli, Maria; D'Amico, Adele; Van Den Hauwe, Marleen; Sivo, Serena; Goemans, Nathalie; Darras, Basil T; Kaufmann, Petra; Bertini, Enrico; De Vivo, Darryl C; Muntoni, Francesco; Finkel, Richard; Mercuri, Eugenio | |
| Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo-controlled, dose-finding trial followed by 24 months of treatment | 1-gen-2022 | Mercuri, Eugenio; Baranello, Giovanni; Boespflug-Tanguy, Odile; De Waele, Liesbeth; Goemans, Nathalie; Kirschner, Janbernd; Masson, Riccardo; Mazzone, Elena S; Pechmann, Astrid; Pera, Maria Carmela; Vuillerot, Carole; Bader-Weder, Silvia; Gerber, Marianne; Gorni, Ksenija; Hoffart, Janine; Kletzl, Heidemarie; Martin, Carmen; Mciver, Tammy; Scalco, Renata S; Yeung, Wai Yin; Servais, Laurent | |
| Revised north star ambulatory assessment for young boys with Duchenne muscular dystrophy | 1-gen-2016 | Mercuri, Eugenio Maria; Coratti, Giorgia; Messina, Sonia; Ricotti, Valeria; Baranello, Giovanni; D'Amico, Adele; Pera, Maria Carmela; Albamonte, Emilio; Sivo, Serena; Mazzone, Elena Stacy; Arnoldi, Maria Teresa; Fanelli, Lavinia; De Sanctis, Roberto; Romeo, Domenico Marco; Vita, Gian Luca; Battini, Roberta; Bertini, Enrico Silvio; Muntoni, Francesco; Pane, Marika |
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