BARCA, EMANUELE
BARCA, EMANUELE
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 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 study of auditory system in 20 patients with late onset Pompe disease
2011-01-01 Musumeci, Olimpia; Catalano, N.; Barca, Emanuele; Ravaglia, S.; Gangemi, G.; Fiumara, A.; Sorge, G.; Galletti, Bruno; Galletti, Francesco; Toscano, Antonio
An unusual clinical presentation of Pompe disease charactherized by a severe distal myopathy
2012-01-01 Biasini, F.; Barca, Emanuele; Tiranni, A; Musumeci, Olimpia; Toscano, Antonio
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
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
Anti-Oxidant Drugs: Novelties and Clinical Implications in Cerebellar Ataxias
2019-01-01 Barca, Emanuele; Emmanuele, Valentina; Dimauro, Salvatore; Toscano, Antonio; Quinzii, Catarina M.
Are there ERT defined guidelines for Pompe disease?
2011-01-01 Toscano, Antonio; Barca, Emanuele; Musumeci, Olimpia
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
Auditory system involvement study in 20 patients with late-onset Pompe disease
2011-01-01 Musumeci, O; Catalano, N; Barca, E; Ravaglia, S; Gangemi, G; Fiumara, A; Sorge, G; Galletti, B; Galletti, F; Toscano, A
Auditory system involvement study in 20 patients with lateonset pompe disease
2011-01-01 Musumeci, Olimpia; Catalano, N.; Barca, Emanuele; Ravaglia, S.; Gangemi, G.; Fiumara, A.; Sorge, G.; Galletti, Bruno; Galletti, Francesco; 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
Chapter 34 - Primary Cerebellar CoQ10 Deficiency
2016-01-01 Quinzii, Catarina; Barca, Emanuele; Hirano, Micio
Clinical and electrophysiological characterization in a cohort of italian patients with different forms of hereditary spastic paraplegia
2011-01-01 Musumeci, Olimpia; Rizzo, Vincenzo; D'Angelo, G.; Martinuzzi, A.; Bassi, M. T.; Brighina, E.; Barca, Emanuele; Quartarone, Angelo; Girlanda, Paolo; Vita, G.; Toscano, Antonio
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
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
Clinical, morphological and genetic features of a large cohort of late onset GSDII patients: typical and atypical presentation
2012-01-01 Barca, Emanuele; Musumeci, Olimpia; Rodolico, Carmelo; Vita, Giuseppe; 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.
Coinvolgimento muscolare in un caso di sindrome di Sweet (dermatosi neutrofila febbrile)
2010-01-01 Barca, Emanuele; Musumeci, Olimpia; Monici, Mc; Rodolico, Carmelo; Gangemi, S; Lo Gullo, R; Toscano, Antonio; Vita, G.
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.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 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 study of auditory system in 20 patients with late onset Pompe disease | 1-gen-2011 | Musumeci, Olimpia; Catalano, N.; Barca, Emanuele; Ravaglia, S.; Gangemi, G.; Fiumara, A.; Sorge, G.; Galletti, Bruno; Galletti, Francesco; Toscano, Antonio | |
| An unusual clinical presentation of Pompe disease charactherized by a severe distal myopathy | 1-gen-2012 | Biasini, F.; Barca, Emanuele; Tiranni, A; Musumeci, Olimpia; Toscano, Antonio | |
| 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 | |
| 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 | |
| Anti-Oxidant Drugs: Novelties and Clinical Implications in Cerebellar Ataxias | 1-gen-2019 | Barca, Emanuele; Emmanuele, Valentina; Dimauro, Salvatore; Toscano, Antonio; Quinzii, Catarina M. | |
| Are there ERT defined guidelines for Pompe disease? | 1-gen-2011 | Toscano, Antonio; Barca, Emanuele; Musumeci, Olimpia | |
| 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 | |
| Auditory system involvement study in 20 patients with late-onset Pompe disease | 1-gen-2011 | Musumeci, O; Catalano, N; Barca, E; Ravaglia, S; Gangemi, G; Fiumara, A; Sorge, G; Galletti, B; Galletti, F; Toscano, A | |
| Auditory system involvement study in 20 patients with lateonset pompe disease | 1-gen-2011 | Musumeci, Olimpia; Catalano, N.; Barca, Emanuele; Ravaglia, S.; Gangemi, G.; Fiumara, A.; Sorge, G.; Galletti, Bruno; Galletti, Francesco; 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 | |
| Chapter 34 - Primary Cerebellar CoQ10 Deficiency | 1-gen-2016 | Quinzii, Catarina; Barca, Emanuele; Hirano, Micio | |
| Clinical and electrophysiological characterization in a cohort of italian patients with different forms of hereditary spastic paraplegia | 1-gen-2011 | Musumeci, Olimpia; Rizzo, Vincenzo; D'Angelo, G.; Martinuzzi, A.; Bassi, M. T.; Brighina, E.; Barca, Emanuele; Quartarone, Angelo; Girlanda, Paolo; Vita, G.; Toscano, Antonio | |
| 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 | |
| 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 | |
| Clinical, morphological and genetic features of a large cohort of late onset GSDII patients: typical and atypical presentation | 1-gen-2012 | Barca, Emanuele; Musumeci, Olimpia; Rodolico, Carmelo; Vita, Giuseppe; 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. | |
| Coinvolgimento muscolare in un caso di sindrome di Sweet (dermatosi neutrofila febbrile) | 1-gen-2010 | Barca, Emanuele; Musumeci, Olimpia; Monici, Mc; Rodolico, Carmelo; Gangemi, S; Lo Gullo, R; Toscano, Antonio; Vita, G. | |
| 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. |