Sfoglia per Autore
AUDITORY SYSTEM INVOLVEMENT IN LATE ONSET POMPE DISEASE: A STUDY OF 20 ITALIAN PATIENTS
2012-01-01 Musumeci, Olimpia; N., Catalano; Barca, Emanuele; S., Ravaglia; A., Fiumara; Gangemi, Giovanna; Rodolico, Carmelo; G., Sorge; Vita, Giuseppe; Galletti, Francesco; Toscano, Antonio
Muscle imaging findings in GNE myopathy.
2012-01-01 Tasca, G; Ricci, E; Monforte, M; Laschena, F; Ottaviani, P; Rodolico, Carmelo; Barca, Emanuele; Silvestri, G; Iannaccone, E; Mirabella, M; Broccolini, A.
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
Quantitative muscle MRI and functional measures in a cohort of late onset GSD II patients
2012-01-01 Musumeci, Olimpia; Gaeta, Michele; Barca, Emanuele; Mileto, A.; Vita, Giuseppe; Toscano, Antonio
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).
2012-01-01 Musumeci, Olimpia; Bruno, C.; Mongini, T.; Rodolico, Carmelo; Aguennouz, M'Hammed; Barca, Emanuele; Amati, A.; Cassandrini, D.; Serlenga, L.; Vita, Giuseppe; Toscano, Antonio
New motor outcome function measures in evaluation of Late-Onset Pompe disease before and after enzyme replacement therapy
2012-01-01 Angelini, Corrado; Semplicini, Claudio; Ravaglia, Sabrina; Moggio, Maurizio; Comi, Giacomo P.; Musumeci, Olimpia; Pegoraro, Elena; Tonin, Paola; Filosto, Massimiliano; Servidei, Serenella; Morandi, Lucia; Crescimanno, Grazia; Marrosu, Giovanni; Siciliano, Gabriele; Mongini, Tiziana; Toscano, Antonio; Sette, E.; Tugnoli, V.; Parini, R.; Rigoldi, M.; Donati, M. D.; Gasperini, S.; Vercelli, L.; Barca, E.; Di Giacopo, R.; Pasanisi, M. B.; Bembi, B.; Lucchini, V.; Piras, R.; Ricci, G.; Di Iorio, G.; Diodato, D.; Carubbi, F.; Ariatti, A.
ANT1 is reduced in sporadic inclusion body myositis.
2013-01-01 Barca, E; Aguennouz, M; Mazzeo, A; Messina, S; Toscano, A; Vita, Gl; Portaro, S; Parisi, D; Rodolico, C
Late-onset Pompe disease (LOPD): Correlations between respiratory muscles CT and MRI features and pulmonary function
2013-01-01 Gaeta M; Barca E; Ruggeri P; Minutoli F; Rodolico C; Mazziotti S; Milardi D; Musumeci O; Toscano A.
Facial onset sensory motor neuronopathy: not always a slowly progressive disorder.
2013-01-01 Barca, E.; Russo, M.; Mazzeo, A.;Terranova, C.;Toscano, A.;Girlanda, P.
ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency
2014-01-01 Balreira, Andrea; Boczonadi, Veronika; Barca, Emanuele; Pyle, Angela; Bansagi, Boglarka; Appleton, Marie; Graham, Claire; Hargreaves, Iain P; Rasic, Vedrana Milic; Lochmüller, Hanns; Griffin, Helen; Taylor, Robert W; Naini, Ali; Chinnery, Patrick F; Hirano, Michio; Quinzii, Catarina M; Horvath, Rita
Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy
2014-01-01 Garcia Diaz, Beatriz; Garone, Caterina; Barca, Emanuele; Mojahed, Hamed; Gutierrez, Purification; Pizzorno, Giuseppe; Tanji, Kurenai; Arias Mendoza, Fernando; Quinzii, Caterina M; Hirano, Michio
Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway
2015-01-01 Garcia Diaz, Beatriz; Barca, Emanuele; Balreira, Andrea; Lopez, Luis C; Tadesse, Saba; Krishna, Sindhu; Naini, Ali; Mariotti, Caterina; Castellotti, Barbara; Quinzii, Catarina M.
Metabolic Myoglobinuria
2015-01-01 Barca, Emanuele; Emmanuele, Valentina; Dimauro, Salvatore Billi
The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene
2015-01-01 Luna Sánchez, Marta; Díaz Casado, Elena; Barca, Emanuele; Tejada, Miguel Ángel; Montilla García, Ángeles; Cobos, Enrique Javier; Escames, Germaine; Acuña Castroviejo, Dario; Quinzii, Catarina M; López, Luis Carlos
CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome
2015-01-01 Barca, Emanuele; Tang, Maoxue; Kleiner, Giulio; Engelstad, Kristin; Dimauro, Salvatore; Quinzii, Catarina M; De Vivo, Darryl C.
Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy
2015-01-01 Ripolone, Michela; Ronchi, Dario; Violano, Raffaella; Vallejo, Dionis; Fagiolari, Gigliola; Barca, Emanuele; Lucchini, Valeria; Colombo, Irene; Villa, Luisa; Berardinelli, Angela; Balottin, Umberto; Morandi, Lucia; Mora, Marina; Bordoni, Andreina; Fortunato, Francesco; Corti, Stefania; Parisi, Daniela; Toscano, Antonio; Sciacco, Monica; Dimauro, Salvatore; Comi, Giacomo P; Moggio, Maurizio
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment
2015-01-01 Montagnese, Federica; Barca, Emanuele; Musumeci, Olimpia; Mondello, Stefania; Migliorato, Alba; Ciranni, Annamaria; Rodolico, Carmelo; De Filippi, P; Danesino, C; Toscano, Antonio
Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway
2016-01-01 Ziosi, Marcello; Di Meo, Ivano; Kleiner, Giulio; Gao, Xing Huang; Barca, Emanuele; Sanchez Quintero, Maria J; Tadesse, Saba; Jiang, Hongfeng; Qiao, Changhong; Rodenburg, Richard J; Scalais, Emmanuel; Schuelke, Markus; Willard, Belinda; Hatzoglou, Maria; Tiranti, Valeria; Quinzii, Catarina M.
Decreased Coenzyme Q10 Levels in Multiple System Atrophy Cerebellum
2016-01-01 Barca, Emanuele; Kleiner, Giulio; Tang, Guomei; Ziosi, Marcello; Tadesse, Saba; Masliah, Eliezer; Louis, Elan D; Faust, Phyllis; Kang, Un J; Torres, Jose; Cortes, Etty P; Vonsattel, Jean Paul G; Kuo, Sheng Han; Quinzii, Catarina M.
Inhibition of NAPDH Oxidase 2 (NOX2) Prevents Oxidative Stress and Mitochondrial Abnormalities Caused by Saturated Fat in Cardiomyocytes
2016-01-01 Joseph, Leroy C; Barca, Emanuele; Subramanyam, Prakash; Komrowski, Michael; Pajvani, Utpal; Colecraft, Henry M; Hirano, Michio; Morrow, John P.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| AUDITORY SYSTEM INVOLVEMENT IN LATE ONSET POMPE DISEASE: A STUDY OF 20 ITALIAN PATIENTS | 1-gen-2012 | Musumeci, Olimpia; N., Catalano; Barca, Emanuele; S., Ravaglia; A., Fiumara; Gangemi, Giovanna; Rodolico, Carmelo; G., Sorge; Vita, Giuseppe; Galletti, Francesco; Toscano, Antonio | |
| Muscle imaging findings in GNE myopathy. | 1-gen-2012 | Tasca, G; Ricci, E; Monforte, M; Laschena, F; Ottaviani, P; Rodolico, Carmelo; Barca, Emanuele; Silvestri, G; Iannaccone, E; Mirabella, M; Broccolini, A. | |
| 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 | |
| Quantitative muscle MRI and functional measures in a cohort of late onset GSD II patients | 1-gen-2012 | Musumeci, Olimpia; Gaeta, Michele; Barca, Emanuele; Mileto, A.; Vita, Giuseppe; Toscano, Antonio | |
| Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII). | 1-gen-2012 | Musumeci, Olimpia; Bruno, C.; Mongini, T.; Rodolico, Carmelo; Aguennouz, M'Hammed; Barca, Emanuele; Amati, A.; Cassandrini, D.; Serlenga, L.; Vita, Giuseppe; Toscano, Antonio | |
| New motor outcome function measures in evaluation of Late-Onset Pompe disease before and after enzyme replacement therapy | 1-gen-2012 | Angelini, Corrado; Semplicini, Claudio; Ravaglia, Sabrina; Moggio, Maurizio; Comi, Giacomo P.; Musumeci, Olimpia; Pegoraro, Elena; Tonin, Paola; Filosto, Massimiliano; Servidei, Serenella; Morandi, Lucia; Crescimanno, Grazia; Marrosu, Giovanni; Siciliano, Gabriele; Mongini, Tiziana; Toscano, Antonio; Sette, E.; Tugnoli, V.; Parini, R.; Rigoldi, M.; Donati, M. D.; Gasperini, S.; Vercelli, L.; Barca, E.; Di Giacopo, R.; Pasanisi, M. B.; Bembi, B.; Lucchini, V.; Piras, R.; Ricci, G.; Di Iorio, G.; Diodato, D.; Carubbi, F.; Ariatti, A. | |
| ANT1 is reduced in sporadic inclusion body myositis. | 1-gen-2013 | Barca, E; Aguennouz, M; Mazzeo, A; Messina, S; Toscano, A; Vita, Gl; Portaro, S; Parisi, D; Rodolico, C | |
| Late-onset Pompe disease (LOPD): Correlations between respiratory muscles CT and MRI features and pulmonary function | 1-gen-2013 | Gaeta M; Barca E; Ruggeri P; Minutoli F; Rodolico C; Mazziotti S; Milardi D; Musumeci O; Toscano A. | |
| Facial onset sensory motor neuronopathy: not always a slowly progressive disorder. | 1-gen-2013 | Barca, E.; Russo, M.; Mazzeo, A.;Terranova, C.;Toscano, A.;Girlanda, P. | |
| ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency | 1-gen-2014 | Balreira, Andrea; Boczonadi, Veronika; Barca, Emanuele; Pyle, Angela; Bansagi, Boglarka; Appleton, Marie; Graham, Claire; Hargreaves, Iain P; Rasic, Vedrana Milic; Lochmüller, Hanns; Griffin, Helen; Taylor, Robert W; Naini, Ali; Chinnery, Patrick F; Hirano, Michio; Quinzii, Catarina M; Horvath, Rita | |
| Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy | 1-gen-2014 | Garcia Diaz, Beatriz; Garone, Caterina; Barca, Emanuele; Mojahed, Hamed; Gutierrez, Purification; Pizzorno, Giuseppe; Tanji, Kurenai; Arias Mendoza, Fernando; Quinzii, Caterina M; Hirano, Michio | |
| Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway | 1-gen-2015 | Garcia Diaz, Beatriz; Barca, Emanuele; Balreira, Andrea; Lopez, Luis C; Tadesse, Saba; Krishna, Sindhu; Naini, Ali; Mariotti, Caterina; Castellotti, Barbara; Quinzii, Catarina M. | |
| Metabolic Myoglobinuria | 1-gen-2015 | Barca, Emanuele; Emmanuele, Valentina; Dimauro, Salvatore Billi | |
| The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene | 1-gen-2015 | Luna Sánchez, Marta; Díaz Casado, Elena; Barca, Emanuele; Tejada, Miguel Ángel; Montilla García, Ángeles; Cobos, Enrique Javier; Escames, Germaine; Acuña Castroviejo, Dario; Quinzii, Catarina M; López, Luis Carlos | |
| CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome | 1-gen-2015 | Barca, Emanuele; Tang, Maoxue; Kleiner, Giulio; Engelstad, Kristin; Dimauro, Salvatore; Quinzii, Catarina M; De Vivo, Darryl C. | |
| Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy | 1-gen-2015 | Ripolone, Michela; Ronchi, Dario; Violano, Raffaella; Vallejo, Dionis; Fagiolari, Gigliola; Barca, Emanuele; Lucchini, Valeria; Colombo, Irene; Villa, Luisa; Berardinelli, Angela; Balottin, Umberto; Morandi, Lucia; Mora, Marina; Bordoni, Andreina; Fortunato, Francesco; Corti, Stefania; Parisi, Daniela; Toscano, Antonio; Sciacco, Monica; Dimauro, Salvatore; Comi, Giacomo P; Moggio, Maurizio | |
| Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment | 1-gen-2015 | Montagnese, Federica; Barca, Emanuele; Musumeci, Olimpia; Mondello, Stefania; Migliorato, Alba; Ciranni, Annamaria; Rodolico, Carmelo; De Filippi, P; Danesino, C; Toscano, Antonio | |
| Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway | 1-gen-2016 | Ziosi, Marcello; Di Meo, Ivano; Kleiner, Giulio; Gao, Xing Huang; Barca, Emanuele; Sanchez Quintero, Maria J; Tadesse, Saba; Jiang, Hongfeng; Qiao, Changhong; Rodenburg, Richard J; Scalais, Emmanuel; Schuelke, Markus; Willard, Belinda; Hatzoglou, Maria; Tiranti, Valeria; Quinzii, Catarina M. | |
| Decreased Coenzyme Q10 Levels in Multiple System Atrophy Cerebellum | 1-gen-2016 | Barca, Emanuele; Kleiner, Giulio; Tang, Guomei; Ziosi, Marcello; Tadesse, Saba; Masliah, Eliezer; Louis, Elan D; Faust, Phyllis; Kang, Un J; Torres, Jose; Cortes, Etty P; Vonsattel, Jean Paul G; Kuo, Sheng Han; Quinzii, Catarina M. | |
| Inhibition of NAPDH Oxidase 2 (NOX2) Prevents Oxidative Stress and Mitochondrial Abnormalities Caused by Saturated Fat in Cardiomyocytes | 1-gen-2016 | Joseph, Leroy C; Barca, Emanuele; Subramanyam, Prakash; Komrowski, Michael; Pajvani, Utpal; Colecraft, Henry M; Hirano, Michio; Morrow, John P. |
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