TOSCANO, Antonio
TOSCANO, Antonio
Dipartimento di Medicina Clinica e Sperimentale
"Dropped- head" syndrome due to isolated myositis of neck extensor muscles: MRI findings
2006-01-01 Gaeta, Michele; Mazziotti, Silvio; Toscano, Antonio; Rodolico, Carmelo; Mazzeo, Anna; Blandino, Alfredo
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network
2016-01-01 Mancuso, Michelangelo; Orsucci, Daniele; Angelini, Corrado; Bertini, Enrico; Carelli, Valerio; Comi, Giacomo Pietro; Federico, Antonio; Minetti, Carlo; Moggio, Maurizio; Mongini, Tiziana; Tonin, Paola; Toscano, Antonio; Bruno, Claudio; Ienco, Elena Caldarazzo; Filosto, Massimiliano; Lamperti, Costanza; Diodato, Daria; Moroni, Isabella; Musumeci, Olimpia; Pegoraro, Elena; Spinazzi, Marco; Ahmed, Naghia; Sciacco, Monica; Vercelli, Liliana; Ardissone, Anna; Zeviani, Massimo; Siciliano, Gabriele
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)
2024-01-01 Schoser, Benedikt; Kishnani, Priya S; Bratkovic, Drago; Byrne, Barry J; Claeys, Kristl G; Díaz-Manera, Jordi; Laforêt, Pascal; Roberts, Mark; Toscano, Antonio; van der Ploeg, Ans T; Castelli, Jeff; Goldman, Mitchell; Holdbrook, Fred; Sitaraman Das, Sheela; Wasfi, Yasmine; Mozaffar, Tahseen; Musumeci, O
208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease.
2015-01-01 Schoser, B.; Laforet, P.; Kruijshaar, M. E.; Toscano, Antonio; van Doorn, P. A.; van der Ploeg, A. T.; European Pompe Consortium, Epoc
211th ENMC International Workshop:: Development of diagnostic criteria and management strategies for McArdle Disease and related rare glycogenolytic disorders to improve standards of care. 17â19 April 2015, Naarden, The Netherlands
2017-01-01 Quinlivan, Ros; Andreu, Antoni L.; Marti, Ramon; Andreu, A.; Godfrey, R.; Haller, R.; Laforêt, P.; Lucía, A.; Martí, R.; Martín, M.; Martinuzzi, A.; Oldfors, A.; Ortega, X.; Pagliarani, S.; Piirila, P.; Piercy, R.; Pinós, T.; Quinlivan, R.; Scalco, R.; Schoser, B.; Toscano, A.; Vissing, J.; Wakelin, A.
A benign case of congenital myotonic dystrophy
1998-01-01 Musumeci, Olimpia; Toscano, Antonio; Condorelli, D; Trovato Salinaro, A; Spinella, F; Cordaro, S; Bonsignore, M; Vita, G.
A case of vacuolar myopathy during the course of chronic hepatitis C.
2006-01-01 Zoccolella, S.; Serlenga, L.; Amati, A.; Lavolpe, V.; Minerva, N.; Aguennouz, M'Hammed; Toscano, Antonio; Lamberti, P.
A CMT1A PATIENT WITH PAINFUL AND DISABLING SYMPTOMS: FAST RECOVERY AFTER IVIG TREATMENT.
2009-01-01 Mazzeo, Anna; Granata, Francesca; Longo, Marcello; Portaro, Simona; Messina, Corrado; Vita, G.; Toscano, Antonio
A cytochemical study of apoptosis in metabolic myopathies
1997-01-01 Monici, Mc; Migliorato, A; Toscano, Antonio; Musumeci, Olimpia; Aguennouz, M'Hammed; Vita, G.
A decreased muscle content of HPRG correlates with the reduction of AMP deaminase activity observed in patients affected by myoadenylate deficiencies
2003-01-01 Sabbatini, Arm; Migliorato, A; Toscano, Antonio; RANIERI RAGGI, G; Vita, G.; Raggi, A.
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies
2020-01-01 Musumeci, O.; Ferlazzo, E.; Rodolico, C.; Gambardella, A.; Gagliardi, M.; Aguglia, U.; Toscano, A.
A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci
2002-01-01 Bellone, E.; Rodolico, Carmelo; Toscano, Antonio; DI MARIA, E.; Cassandrini, D.; Pizzuti, A.; Pigullo, S.; Mazzeo, Anna; Macaione, Vincenzo; Girlanda, Paolo; Vita, Giuseppe; Ajmar, F.; Mandich, P.
A genetic modifier of symptom onset in Pompe disease
2019-01-01 Bergsma, Atze J.; in 't Groen, Stijn L. M.; van den Dorpel, Jan J. A.; van den Hout, Hannerieke J. M. P.; van der Beek, Nadine A. M. E.; Schoser, Benedikt; Toscano, Antonio; Musumeci, Olimpia; Bembi, Bruno; Dardis, Andrea; Morrone, Amelia; Tummolo, Albina; Pasquini, Elisabetta; van der Ploeg, Ans T.; Pijnappel, W. W. M. Pim
A life threatening case of β-enolase deficiency
2009-01-01 Musumeci, Olimpia; Rodolico, Carmelo; Barca, Emanuele; Aguennouz, M'Hammed; Lanzano, N.; Ciranni, A.; Vita, G.; Toscano, Antonio
A mobile app for patients with Pompe disease and its possible clinical applications
2018-01-01 Ricci, Giulia; Baldanzi, Sigrid; Seidita, Fabrizio; Proietti, Chiara; Carlini, Francesca; Peviani, Silvia; Antonini, Giovanni; Vianello, Andrea; Siciliano, Gabriele; Musumeci, O.; Toscano, A.; Ravaglia, S.; Moggio, M.; Comi, G.; Pegoraro, E.; Filosto, M.; Marrosu, G.; Maggi, L.; Liguori, R.; Massa, R.; Di Iorio, G.; Servidei, S.; Angelini, C.; Mongini, T.
A MRI evaluation of respiratory function in patients with the late onset form of Pompe disease
2012-01-01 Musumeci, Olimpia; Gaeta, Michele; Barca, Emanuele; Mileto, A; Toscano, Antonio
A new explanation for recessive myotonia congenita Exon deletions and duplications in CLCN1
2012-01-01 D. L., Raja Rayan; A., Haworth; R., Sud; E., Matthews; D., Fialho; J., Burge; Portaro, Simona; S., Schorge; K., Tuin; P., Lunt; M., Mcentagart; Toscano, Antonio; M. B., Davis; M. G., Hanna
A new phenotype of muscle glycogen synthase deficiency (GSD0B) characterized by an adult onset myopathy without cardiomyopathy
2022-01-01 Musumeci, Olimpia; Pugliese, Alessia; Oteri, Rosaria; Volta, Sara; Ciranni, Anna; Moggio, Maurizio; Rodolico, Carmelo; Toscano, Antonio
A novel Cx32 mutation with unusual phenotype.
2008-01-01 Mazzeo, Anna; Fabrizi, G; Taioli, F; Arena, G; Toscano, Antonio; Vita, Giuseppe
A novel mithocondrial tRNAHys point mutation in a patient with PSP-like phenotype.
2012-01-01 Romeo, S; Morgante, Francesca; Ciranni, A; Montagnese, F; Vita, G; Toscano, Antonio; Musumeci, Olimpia
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| "Dropped- head" syndrome due to isolated myositis of neck extensor muscles: MRI findings | 1-gen-2006 | Gaeta, Michele; Mazziotti, Silvio; Toscano, Antonio; Rodolico, Carmelo; Mazzeo, Anna; Blandino, Alfredo | |
| "Mitochondrial neuropathies": A survey from the large cohort of the Italian Network | 1-gen-2016 | Mancuso, Michelangelo; Orsucci, Daniele; Angelini, Corrado; Bertini, Enrico; Carelli, Valerio; Comi, Giacomo Pietro; Federico, Antonio; Minetti, Carlo; Moggio, Maurizio; Mongini, Tiziana; Tonin, Paola; Toscano, Antonio; Bruno, Claudio; Ienco, Elena Caldarazzo; Filosto, Massimiliano; Lamperti, Costanza; Diodato, Daria; Moroni, Isabella; Musumeci, Olimpia; Pegoraro, Elena; Spinazzi, Marco; Ahmed, Naghia; Sciacco, Monica; Vercelli, Liliana; Ardissone, Anna; Zeviani, Massimo; Siciliano, Gabriele | |
| 104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07) | 1-gen-2024 | Schoser, Benedikt; Kishnani, Priya S; Bratkovic, Drago; Byrne, Barry J; Claeys, Kristl G; Díaz-Manera, Jordi; Laforêt, Pascal; Roberts, Mark; Toscano, Antonio; van der Ploeg, Ans T; Castelli, Jeff; Goldman, Mitchell; Holdbrook, Fred; Sitaraman Das, Sheela; Wasfi, Yasmine; Mozaffar, Tahseen; Musumeci, O | |
| 208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease. | 1-gen-2015 | Schoser, B.; Laforet, P.; Kruijshaar, M. E.; Toscano, Antonio; van Doorn, P. A.; van der Ploeg, A. T.; European Pompe Consortium, Epoc | |
| 211th ENMC International Workshop:: Development of diagnostic criteria and management strategies for McArdle Disease and related rare glycogenolytic disorders to improve standards of care. 17â19 April 2015, Naarden, The Netherlands | 1-gen-2017 | Quinlivan, Ros; Andreu, Antoni L.; Marti, Ramon; Andreu, A.; Godfrey, R.; Haller, R.; Laforêt, P.; Lucía, A.; Martí, R.; Martín, M.; Martinuzzi, A.; Oldfors, A.; Ortega, X.; Pagliarani, S.; Piirila, P.; Piercy, R.; Pinós, T.; Quinlivan, R.; Scalco, R.; Schoser, B.; Toscano, A.; Vissing, J.; Wakelin, A. | |
| A benign case of congenital myotonic dystrophy | 1-gen-1998 | Musumeci, Olimpia; Toscano, Antonio; Condorelli, D; Trovato Salinaro, A; Spinella, F; Cordaro, S; Bonsignore, M; Vita, G. | |
| A case of vacuolar myopathy during the course of chronic hepatitis C. | 1-gen-2006 | Zoccolella, S.; Serlenga, L.; Amati, A.; Lavolpe, V.; Minerva, N.; Aguennouz, M'Hammed; Toscano, Antonio; Lamberti, P. | |
| A CMT1A PATIENT WITH PAINFUL AND DISABLING SYMPTOMS: FAST RECOVERY AFTER IVIG TREATMENT. | 1-gen-2009 | Mazzeo, Anna; Granata, Francesca; Longo, Marcello; Portaro, Simona; Messina, Corrado; Vita, G.; Toscano, Antonio | |
| A cytochemical study of apoptosis in metabolic myopathies | 1-gen-1997 | Monici, Mc; Migliorato, A; Toscano, Antonio; Musumeci, Olimpia; Aguennouz, M'Hammed; Vita, G. | |
| A decreased muscle content of HPRG correlates with the reduction of AMP deaminase activity observed in patients affected by myoadenylate deficiencies | 1-gen-2003 | Sabbatini, Arm; Migliorato, A; Toscano, Antonio; RANIERI RAGGI, G; Vita, G.; Raggi, A. | |
| A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies | 1-gen-2020 | Musumeci, O.; Ferlazzo, E.; Rodolico, C.; Gambardella, A.; Gagliardi, M.; Aguglia, U.; Toscano, A. | |
| A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci | 1-gen-2002 | Bellone, E.; Rodolico, Carmelo; Toscano, Antonio; DI MARIA, E.; Cassandrini, D.; Pizzuti, A.; Pigullo, S.; Mazzeo, Anna; Macaione, Vincenzo; Girlanda, Paolo; Vita, Giuseppe; Ajmar, F.; Mandich, P. | |
| A genetic modifier of symptom onset in Pompe disease | 1-gen-2019 | Bergsma, Atze J.; in 't Groen, Stijn L. M.; van den Dorpel, Jan J. A.; van den Hout, Hannerieke J. M. P.; van der Beek, Nadine A. M. E.; Schoser, Benedikt; Toscano, Antonio; Musumeci, Olimpia; Bembi, Bruno; Dardis, Andrea; Morrone, Amelia; Tummolo, Albina; Pasquini, Elisabetta; van der Ploeg, Ans T.; Pijnappel, W. W. M. Pim | |
| A life threatening case of β-enolase deficiency | 1-gen-2009 | Musumeci, Olimpia; Rodolico, Carmelo; Barca, Emanuele; Aguennouz, M'Hammed; Lanzano, N.; Ciranni, A.; Vita, G.; Toscano, Antonio | |
| A mobile app for patients with Pompe disease and its possible clinical applications | 1-gen-2018 | Ricci, Giulia; Baldanzi, Sigrid; Seidita, Fabrizio; Proietti, Chiara; Carlini, Francesca; Peviani, Silvia; Antonini, Giovanni; Vianello, Andrea; Siciliano, Gabriele; Musumeci, O.; Toscano, A.; Ravaglia, S.; Moggio, M.; Comi, G.; Pegoraro, E.; Filosto, M.; Marrosu, G.; Maggi, L.; Liguori, R.; Massa, R.; Di Iorio, G.; Servidei, S.; Angelini, C.; Mongini, T. | |
| A MRI evaluation of respiratory function in patients with the late onset form of Pompe disease | 1-gen-2012 | Musumeci, Olimpia; Gaeta, Michele; Barca, Emanuele; Mileto, A; Toscano, Antonio | |
| A new explanation for recessive myotonia congenita Exon deletions and duplications in CLCN1 | 1-gen-2012 | D. L., Raja Rayan; A., Haworth; R., Sud; E., Matthews; D., Fialho; J., Burge; Portaro, Simona; S., Schorge; K., Tuin; P., Lunt; M., Mcentagart; Toscano, Antonio; M. B., Davis; M. G., Hanna | |
| A new phenotype of muscle glycogen synthase deficiency (GSD0B) characterized by an adult onset myopathy without cardiomyopathy | 1-gen-2022 | Musumeci, Olimpia; Pugliese, Alessia; Oteri, Rosaria; Volta, Sara; Ciranni, Anna; Moggio, Maurizio; Rodolico, Carmelo; Toscano, Antonio | |
| A novel Cx32 mutation with unusual phenotype. | 1-gen-2008 | Mazzeo, Anna; Fabrizi, G; Taioli, F; Arena, G; Toscano, Antonio; Vita, Giuseppe | |
| A novel mithocondrial tRNAHys point mutation in a patient with PSP-like phenotype. | 1-gen-2012 | Romeo, S; Morgante, Francesca; Ciranni, A; Montagnese, F; Vita, G; Toscano, Antonio; Musumeci, Olimpia |