Sfoglia per Autore
Chapter 34 - Primary Cerebellar CoQ10 Deficiency
2016-01-01 Quinzii, Catarina; Barca, Emanuele; Hirano, Micio
Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD)
2016-01-01 Montagnese, Federica; Granata, Francesca; Musumeci, Olimpia; Rodolico, Carmelo; Mondello, Stefania; Barca, Emanuele; Cucinotta, Maria; Ciranni, Anna; Longo, Marcello; Toscano, Antonio
CEREBELLAR ATAXIA AND SEVERE MUSCLE CoQ10 DEFICIENCY IN A PATIENT WITH A NOVEL MUTATION IN ADCK3
2016-01-01 Barca, Emanuele; Musumeci, O.; Montagnese, Federica; Marino, Silvia; Granata, Francesca; Nunnari, D.; Peverelli, L.; DI MAURO, Simone; Quinzi, C. M.; Toscano, Antonio
Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency
2016-01-01 Sadat, Roa; Barca, Emanuele; Masand, Ruchi; Donti, Taraka R.; Naini, Ali; De Vivo, Darryl C.; Dimauro, Salvatore; Hanchard, Neil A.; Graham, Brett H
Cytochrome c Oxidase Activity Is a Metabolic Checkpoint that Regulates Cell Fate Decisions During T Cell Activation and Differentiation
2017-01-01 Tarasenko, Tatyana N.; Pacheco, Susan E.; Koenig, Mary Kay; Gomez-rodriguez, Julio; Kapnick, Senta M.; Diaz, Francisca; Zerfas, Patricia M.; Barca, Emanuele; Sudderth, Jessica; Deberardinis, Ralph J.; Covian, Raul; Balaban, Robert S.; Dimauro, Salvatore; Mcguire, Peter J.
Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency
2017-01-01 Lopez-gomez, Carlos; Levy, Rebecca J.; Sanchez-quintero, Maria J.; Juanola-falgarona, Martã; Barca, Emanuele; Garcia-diaz, Beatriz; Tadesse, Saba; Garone, Caterina; Hirano, Michio
Risk of Myopathy in Patients in Therapy with Statins: Identification of Biological Markers in a Pilot Study
2017-01-01 Camerino, Giulia M; Musumeci, Olimpia; Conte, Elena; Musaraj, Kejla; Fonzino, Adriano; Barca, Emanuele; Marino, Marco; Rodolico, Carmelo; Tricarico, Domenico; Camerino, Claudia; Carratù, Maria R; Desaphy, Jean François; De Luca, Annamaria; Toscano, Antonio; Pierno, Sabata
Update on diagnostics of metabolic myopathies
2017-01-01 Toscano, Antonio; Barca, Emanuele; Musumeci, Olimpia
The Role of Mitochondria in Cerebellar Ataxias
2017-12-19 Barca, Emanuele
Anti-Oxidant Drugs: Novelties and Clinical Implications in Cerebellar Ataxias
2019-01-01 Barca, Emanuele; Emmanuele, Valentina; Dimauro, Salvatore; Toscano, Antonio; Quinzii, Catarina M.
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients
2019-01-01 Musumeci, Olimpia; Barca, Emanuele; Lamperti, Costanza; Servidei, Serenella; Comi, Giacomo Pietro; Moggio, Maurizio; Mongini, Tiziana; Siciliano, Gabriele; Filosto, Massimiliano; Pegoraro, Elena; Primiano, Guido; Ronchi, Dario; Vercelli, Liliana; Orsucci, Daniele; Bello, Luca; Zeviani, Massimo; Mancuso, Michelangelo; Toscano, Antonio
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Chapter 34 - Primary Cerebellar CoQ10 Deficiency | 1-gen-2016 | Quinzii, Catarina; Barca, Emanuele; Hirano, Micio | |
| Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD) | 1-gen-2016 | Montagnese, Federica; Granata, Francesca; Musumeci, Olimpia; Rodolico, Carmelo; Mondello, Stefania; Barca, Emanuele; Cucinotta, Maria; Ciranni, Anna; Longo, Marcello; Toscano, Antonio | |
| CEREBELLAR ATAXIA AND SEVERE MUSCLE CoQ10 DEFICIENCY IN A PATIENT WITH A NOVEL MUTATION IN ADCK3 | 1-gen-2016 | Barca, Emanuele; Musumeci, O.; Montagnese, Federica; Marino, Silvia; Granata, Francesca; Nunnari, D.; Peverelli, L.; DI MAURO, Simone; Quinzi, C. M.; Toscano, Antonio | |
| Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency | 1-gen-2016 | Sadat, Roa; Barca, Emanuele; Masand, Ruchi; Donti, Taraka R.; Naini, Ali; De Vivo, Darryl C.; Dimauro, Salvatore; Hanchard, Neil A.; Graham, Brett H | |
| Cytochrome c Oxidase Activity Is a Metabolic Checkpoint that Regulates Cell Fate Decisions During T Cell Activation and Differentiation | 1-gen-2017 | Tarasenko, Tatyana N.; Pacheco, Susan E.; Koenig, Mary Kay; Gomez-rodriguez, Julio; Kapnick, Senta M.; Diaz, Francisca; Zerfas, Patricia M.; Barca, Emanuele; Sudderth, Jessica; Deberardinis, Ralph J.; Covian, Raul; Balaban, Robert S.; Dimauro, Salvatore; Mcguire, Peter J. | |
| Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency | 1-gen-2017 | Lopez-gomez, Carlos; Levy, Rebecca J.; Sanchez-quintero, Maria J.; Juanola-falgarona, Martã; Barca, Emanuele; Garcia-diaz, Beatriz; Tadesse, Saba; Garone, Caterina; Hirano, Michio | |
| Risk of Myopathy in Patients in Therapy with Statins: Identification of Biological Markers in a Pilot Study | 1-gen-2017 | Camerino, Giulia M; Musumeci, Olimpia; Conte, Elena; Musaraj, Kejla; Fonzino, Adriano; Barca, Emanuele; Marino, Marco; Rodolico, Carmelo; Tricarico, Domenico; Camerino, Claudia; Carratù, Maria R; Desaphy, Jean François; De Luca, Annamaria; Toscano, Antonio; Pierno, Sabata | |
| Update on diagnostics of metabolic myopathies | 1-gen-2017 | Toscano, Antonio; Barca, Emanuele; Musumeci, Olimpia | |
| The Role of Mitochondria in Cerebellar Ataxias | 19-dic-2017 | Barca, Emanuele | |
| Anti-Oxidant Drugs: Novelties and Clinical Implications in Cerebellar Ataxias | 1-gen-2019 | Barca, Emanuele; Emmanuele, Valentina; Dimauro, Salvatore; Toscano, Antonio; Quinzii, Catarina M. | |
| Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients | 1-gen-2019 | Musumeci, Olimpia; Barca, Emanuele; Lamperti, Costanza; Servidei, Serenella; Comi, Giacomo Pietro; Moggio, Maurizio; Mongini, Tiziana; Siciliano, Gabriele; Filosto, Massimiliano; Pegoraro, Elena; Primiano, Guido; Ronchi, Dario; Vercelli, Liliana; Orsucci, Daniele; Bello, Luca; Zeviani, Massimo; Mancuso, Michelangelo; Toscano, Antonio |
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