SCARPELLI, Mauro
SCARPELLI, Mauro
DIPARTIMENTO DI SCIENZE NEUROLOGICHE E DEL MOVIMENTO (attivo dal 01/01/2000 al 31/12/2015)
Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome
2014-01-01 Cámara, Y.; González Vioque, E.; Scarpelli, Mauro; Torres Torronteras, J.; Caballero, A.; Hirano, M.; Martí, R.
Aortic and Mitral Valve Involvement in Maroteaux-Lamy Syndrome VI: Surgical Implications in the Enzyme Replacement Therapy Era
2016-01-01 Torre, Salvatore; Scarpelli, Mauro; Salviati, Alessandro; Buffone, Ebba; Faggian, Giuseppe; Luciani, GIOVANNI BATTISTA
Chronic ophthalmoparesis in limb girdle muscular dystrophy 1C.
2009-01-01 Filosto, M.; Tonin, Paola; Vattemi, Gaetano Nicola; Scarpelli, Mauro; Baronchelli, C.; Broglio, L.; Tentorio, M.; Cotelli, M.; Padovani, A.; Tomelleri, Giuliano
Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement.
2013-01-01 Bax, B. E.; Bain, M. D.; Scarpelli, Mauro; Filosto, M.; Tonin, Paola; Moran, N.
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy.
2012-01-01 Filosto, M.; Scarpelli, Mauro; Tonin, Paola; Lucchini, G.; Pavan, F.; Santus, F.; Parini, R.; Donati, M. A.; Cotelli, M. S.; Vielmi, V.; Todeschini, A.; Canonico, F.; Tomelleri, Giuliano; Padovani, A.; Rovelli, A.
Current options in the treatment of mitochondrial diseases.
2010-01-01 Scarpelli, Mauro; Cotelli, M. S.; Mancuso, M.; Tomelleri, Giuliano; Tonin, Paola; Baronchelli, C.; Vielmi, V.; Gregorelli, V.; Todeschini, A.; Padovani, A.; Filosto, M.
Endoscopic trans-Magendie foramen biopsy of the superior medullary velum: Technical note
2023-01-01 Feletti, Alberto; Vernile, Bruno; Testa, Mattia; Scarpelli, Mauro; Bonetti, Bruno; Sala, Francesco
Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases.
2012-01-01 Mancuso, M.; Angelini, C.; Bertini, E.; Carelli, V.; Comi, G. P.; Minetti, C.; Moggio, M.; Mongini, T.; Servidei, S.; Tonin, Paola; Toscano, A.; Uziel, G.; Zeviani, M.; Siciliano, G.; Nation wide Italian Collaborative Network of Mitochondrial, Diseases; Collaborators: Bruno, C.; Filosto, Massimiliano; Lamperti, C.; Martinelli, D.; Moroni, I.; Musumeci, O.; Orsucci, D.; Pegoraro, E.; Santorelli, F. M.; Scarpelli, Mauro; Sciacco, M.; Spinazzi, M.; Valentino, M. L.; Vercelli, L.
Feeding the deoxyribonucleoside salvage pathway to rescue mitochondrial DNA
2013-01-01 Cámara, Y.; González Vioque, E.; Scarpelli, Mauro; Torres Torronteras, J.; Martí, R.
Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies
2018-01-01 Scarpelli, Mauro; Carreño-Gago, Lidia; Russignan, Anna; de Luna, Noemi; Carnicer-Cáceres, Clara; Ariatti, Alessandra; Verriello, Lorenzo; Devigili, Grazia; Tonin, Paola; Garcia-Arumi, Elena; Pinós, Tomàs
Late-onset glycogen storage disease type 2.
2014-01-01 Filosto, M.; Cotelli, M. S.; Vielmi, V.; Todeschini, A.; Rinaldi, F.; Rota, S.; Scarpelli, Mauro; Padovani, A.
McArdle disease and sporadic inclusion-body myositis.
2009-01-01 Scarpelli, Mauro; Vattemi, Gaetano Nicola; Filosto, M.; Krause, S.; Marini, Matteo; Tomelleri, Giuliano; Tonin, Paola
Mitochondrial DNA haplogroups may influence Fabry Disease phenotypei.
2016-01-01 Simoncin, C.; Chico, L.; Concolino, D.; Sestito, S.; Fancellu, L.; Boadu, W.; Sechi, G. P.; Feliciani, C.; Gnarra, M.; Zampetti, A.; Salviati, Alessandro; Scarpelli, Mauro; Orsucci, D.; Bonuccelli, U.; Siciliano, G.; Mancuso, M.
Mitochondrial sensorineural hearing loss: a retrospective study and a description of cochlear implantation in a MELAS patient.
2012-01-01 Scarpelli, Mauro; Zappini, F.; Filosto, M.; Russignan, Anna; Tonin, Paola; Tomelleri, Giuliano
Myoclonus in mitochondrial disorders
2014-01-01 Mancuso, M.; Orsucci, D.; Angelini, C.; Bertini, E.; Catteruccia, M.; Pegoraro, E.; Carelli, V.; Valentino, M. L.; Comi, G. P.; Minetti, C.; Bruno, C.; Moggio, M.; Ienco, E. C.; Mongini, T.; Vercelli, L.; Primiano, G.; Servidei, S.; Tonin, Paola; Scarpelli, Mauro
Myopathic involvement and mitochondrial pathology in Kennedy disease and in other motor neuron diseases.
2014-01-01 Orsucci, D.; Rocchi, A.; Ienco, E. C.; Alì, G.; Logerfo, A.; Petrozzi, L.; Scarpelli, Mauro; Filosto, M.; Carlesi, C.; Siciliano, G.; Bonuccelli, U.; Mancuso, M.
Natural history of motor neuron disease in adult onset GM2-gangliosidosis: a case report with 25 years of follow-up
2014-01-01 Scarpelli, Mauro; Tomelleri, G.; Bertolasi, Laura; Salviati, Alessandro
Neuropathology of mitochondrial diseases
2007-01-01 Filosto, M.; Tomelleri, Giuliano; Tonin, Paola; Scarpelli, Mauro; Vattemi, Gaetano Nicola; Rizzuto, Nicolo'; Padovani, A.; Simonati, Alessandro
Non-muscle involvement in late-onset Glycogenosis II
2013-01-01 Filosto, M.; Todeschini, A.; Cotelli, M. S. 1.; Vielmi, V.; Rinaldi, F.; Rota, S.; Scarpelli, Mauro; Padovani, A.
Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients
2016-01-01 Querin, Giorgia; Bertolin, Cinzia; Da Re, Elisa; Volpe, Marco; Zara, Gabriella; Pegoraro, Elena; Caretta, Nicola; Foresta, Carlo; Silvano, Maria; Corrado, Domenico; Iafrate, Massimo; Angelini, Lorenzo; Sartori, Leonardo; Pennuto, Maria; Gaiani, Alessandra; Bello, Luca; Semplicini, Claudio; Pareyson, Davide; Silani, Vincenzo; Ermani, Mario; Ferlin, Alberto; Sorarù, Gianni; Collaborators Mandrioli J, Italian Study Group on Kennedy's d. i. s. e. a. s. e.; Galasso, G; Mazzini, L; Romito, S; Tonin, Paola; Scarpelli, Mauro; Ricci, G; Siciliano, G; Petrucci, A; Massa, R; Polo, A; Mariotti, C; Sagnelli, A; Palmieri, A; Briani, C.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome | 1-gen-2014 | Cámara, Y.; González Vioque, E.; Scarpelli, Mauro; Torres Torronteras, J.; Caballero, A.; Hirano, M.; Martí, R. | |
| Aortic and Mitral Valve Involvement in Maroteaux-Lamy Syndrome VI: Surgical Implications in the Enzyme Replacement Therapy Era | 1-gen-2016 | Torre, Salvatore; Scarpelli, Mauro; Salviati, Alessandro; Buffone, Ebba; Faggian, Giuseppe; Luciani, GIOVANNI BATTISTA | |
| Chronic ophthalmoparesis in limb girdle muscular dystrophy 1C. | 1-gen-2009 | Filosto, M.; Tonin, Paola; Vattemi, Gaetano Nicola; Scarpelli, Mauro; Baronchelli, C.; Broglio, L.; Tentorio, M.; Cotelli, M.; Padovani, A.; Tomelleri, Giuliano | |
| Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement. | 1-gen-2013 | Bax, B. E.; Bain, M. D.; Scarpelli, Mauro; Filosto, M.; Tonin, Paola; Moran, N. | |
| Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy. | 1-gen-2012 | Filosto, M.; Scarpelli, Mauro; Tonin, Paola; Lucchini, G.; Pavan, F.; Santus, F.; Parini, R.; Donati, M. A.; Cotelli, M. S.; Vielmi, V.; Todeschini, A.; Canonico, F.; Tomelleri, Giuliano; Padovani, A.; Rovelli, A. | |
| Current options in the treatment of mitochondrial diseases. | 1-gen-2010 | Scarpelli, Mauro; Cotelli, M. S.; Mancuso, M.; Tomelleri, Giuliano; Tonin, Paola; Baronchelli, C.; Vielmi, V.; Gregorelli, V.; Todeschini, A.; Padovani, A.; Filosto, M. | |
| Endoscopic trans-Magendie foramen biopsy of the superior medullary velum: Technical note | 1-gen-2023 | Feletti, Alberto; Vernile, Bruno; Testa, Mattia; Scarpelli, Mauro; Bonetti, Bruno; Sala, Francesco | |
| Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases. | 1-gen-2012 | Mancuso, M.; Angelini, C.; Bertini, E.; Carelli, V.; Comi, G. P.; Minetti, C.; Moggio, M.; Mongini, T.; Servidei, S.; Tonin, Paola; Toscano, A.; Uziel, G.; Zeviani, M.; Siciliano, G.; Nation wide Italian Collaborative Network of Mitochondrial, Diseases; Collaborators: Bruno, C.; Filosto, Massimiliano; Lamperti, C.; Martinelli, D.; Moroni, I.; Musumeci, O.; Orsucci, D.; Pegoraro, E.; Santorelli, F. M.; Scarpelli, Mauro; Sciacco, M.; Spinazzi, M.; Valentino, M. L.; Vercelli, L. | |
| Feeding the deoxyribonucleoside salvage pathway to rescue mitochondrial DNA | 1-gen-2013 | Cámara, Y.; González Vioque, E.; Scarpelli, Mauro; Torres Torronteras, J.; Martí, R. | |
| Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies | 1-gen-2018 | Scarpelli, Mauro; Carreño-Gago, Lidia; Russignan, Anna; de Luna, Noemi; Carnicer-Cáceres, Clara; Ariatti, Alessandra; Verriello, Lorenzo; Devigili, Grazia; Tonin, Paola; Garcia-Arumi, Elena; Pinós, Tomàs | |
| Late-onset glycogen storage disease type 2. | 1-gen-2014 | Filosto, M.; Cotelli, M. S.; Vielmi, V.; Todeschini, A.; Rinaldi, F.; Rota, S.; Scarpelli, Mauro; Padovani, A. | |
| McArdle disease and sporadic inclusion-body myositis. | 1-gen-2009 | Scarpelli, Mauro; Vattemi, Gaetano Nicola; Filosto, M.; Krause, S.; Marini, Matteo; Tomelleri, Giuliano; Tonin, Paola | |
| Mitochondrial DNA haplogroups may influence Fabry Disease phenotypei. | 1-gen-2016 | Simoncin, C.; Chico, L.; Concolino, D.; Sestito, S.; Fancellu, L.; Boadu, W.; Sechi, G. P.; Feliciani, C.; Gnarra, M.; Zampetti, A.; Salviati, Alessandro; Scarpelli, Mauro; Orsucci, D.; Bonuccelli, U.; Siciliano, G.; Mancuso, M. | |
| Mitochondrial sensorineural hearing loss: a retrospective study and a description of cochlear implantation in a MELAS patient. | 1-gen-2012 | Scarpelli, Mauro; Zappini, F.; Filosto, M.; Russignan, Anna; Tonin, Paola; Tomelleri, Giuliano | |
| Myoclonus in mitochondrial disorders | 1-gen-2014 | Mancuso, M.; Orsucci, D.; Angelini, C.; Bertini, E.; Catteruccia, M.; Pegoraro, E.; Carelli, V.; Valentino, M. L.; Comi, G. P.; Minetti, C.; Bruno, C.; Moggio, M.; Ienco, E. C.; Mongini, T.; Vercelli, L.; Primiano, G.; Servidei, S.; Tonin, Paola; Scarpelli, Mauro | |
| Myopathic involvement and mitochondrial pathology in Kennedy disease and in other motor neuron diseases. | 1-gen-2014 | Orsucci, D.; Rocchi, A.; Ienco, E. C.; Alì, G.; Logerfo, A.; Petrozzi, L.; Scarpelli, Mauro; Filosto, M.; Carlesi, C.; Siciliano, G.; Bonuccelli, U.; Mancuso, M. | |
| Natural history of motor neuron disease in adult onset GM2-gangliosidosis: a case report with 25 years of follow-up | 1-gen-2014 | Scarpelli, Mauro; Tomelleri, G.; Bertolasi, Laura; Salviati, Alessandro | |
| Neuropathology of mitochondrial diseases | 1-gen-2007 | Filosto, M.; Tomelleri, Giuliano; Tonin, Paola; Scarpelli, Mauro; Vattemi, Gaetano Nicola; Rizzuto, Nicolo'; Padovani, A.; Simonati, Alessandro | |
| Non-muscle involvement in late-onset Glycogenosis II | 1-gen-2013 | Filosto, M.; Todeschini, A.; Cotelli, M. S. 1.; Vielmi, V.; Rinaldi, F.; Rota, S.; Scarpelli, Mauro; Padovani, A. | |
| Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients | 1-gen-2016 | Querin, Giorgia; Bertolin, Cinzia; Da Re, Elisa; Volpe, Marco; Zara, Gabriella; Pegoraro, Elena; Caretta, Nicola; Foresta, Carlo; Silvano, Maria; Corrado, Domenico; Iafrate, Massimo; Angelini, Lorenzo; Sartori, Leonardo; Pennuto, Maria; Gaiani, Alessandra; Bello, Luca; Semplicini, Claudio; Pareyson, Davide; Silani, Vincenzo; Ermani, Mario; Ferlin, Alberto; Sorarù, Gianni; Collaborators Mandrioli J, Italian Study Group on Kennedy's d. i. s. e. a. s. e.; Galasso, G; Mazzini, L; Romito, S; Tonin, Paola; Scarpelli, Mauro; Ricci, G; Siciliano, G; Petrucci, A; Massa, R; Polo, A; Mariotti, C; Sagnelli, A; Palmieri, A; Briani, C. |