BARCA, EMANUELE

BARCA, EMANUELE  

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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, E.; Musumeci, O.; Montagnese, F.; Marino, S.; Granata, F.; Nunnari, D.; Peverelli, L.; Dimauro, S.; Quinzi, C.M.; Toscano, A.
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.