Sfoglia per Autore
A cytochemical study of apoptosis in metabolic myopathies
1997-01-01 Monici, Mc; Migliorato, A; Toscano, Antonio; Musumeci, Olimpia; Aguennouz, M'Hammed; Vita, G.
Toxic myopathy with rhabdomyolysis after quail poisoning
1997-01-01 Musumeci, Olimpia; Toscano, Antonio; Aguennouz, M'Hammed; M. C., Monici; Gallitto, Giuseppe; Tisano, Adriana; Rodolico, Carmelo; M., Valenti
A benign case of congenital myotonic dystrophy
1998-01-01 Musumeci, Olimpia; Toscano, Antonio; Condorelli, D; Trovato Salinaro, A; Spinella, F; Cordaro, S; Bonsignore, M; Vita, G.
Central and perypheral nervous system involvement in hereditary coproporphyria.
1998-01-01 Rodolico, Carmelo; Toscano, Antonio; Valenti, M.; Musumeci, Olimpia; Macaione, Vincenzo; Vita, Giuseppe
Apoptosis in metabolic myopathies
1998-01-01 Monici, Mc; Toscano, Antonio; Girlanda, Paolo; Aguennouz, M'Hammed; Musumeci, Olimpia; Vita, Giuseppe
Lipid peroxidation, free radicals and antioxidants in patients with myotonic distrophy.
1999-01-01 Toscano, Antonio; Annesi, G.; Campo, Giuseppe Maurizio; Musumeci, Olimpia; Rodolico, Carmelo; Spadafora, P.; Pasqua, A. A.; Annesi, F.; Annesi, A.; Caputi, A.; Vita, G. .
Power spectral analysis of heart rate in myotonic dystrophy
1999-01-01 Di Leo, R; Vita, G.; Rodolico, Carmelo; Musumeci, Olimpia; Toscano, Antonio; Messina, C.
A novel mutation in the mitochondrial DNA transfer ribonucleic acidAsp gene in a child with myoclonic epilepsy and psychomotor regression.
1999-01-01 Shtilbans, A; El Schahawi, M; Malkin, E; Shanske, S; Musumeci, Olimpia; Dimauro, S.
Clinical eterogeneity and molecular basis of myoadenilate deaminase deficiency.
2000-01-01 Aguennouz, M'Hammed; Rodolico, Carmelo; Ciranni, A; Migliorato, A; Musumeci, Olimpia; Vita, G; Toscano, Antonio
Clinical hetrogeneity and molecular basis of myoadenilate deaminase deficiency
2000-01-01 Aguennouz, M'Hammed; Rodolico, Carmelo; Ciranni, A; Migliorato, A; Musumeci, Olimpia; Vita, G; Toscano, Antonio
Clinical spectrum of muscle Coenzyme Q10 deficiency
2000-01-01 Musumeci, Olimpia; Hirano, M; Naini, A; Shanske, S; Dimauro, S.
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease.
2000-01-01 Fernández, R; Navarro, C; Andreu, Al; Bruno, C; Shanske, S; Gámez, J; Teijeira, S; Hernández, I; Teijeiro, A; Fernández, Jm; Musumeci, Olimpia; Dimauro, S.
Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy.
2000-01-01 Musumeci, Olimpia; Andreu, Al; Shanske, S; Bresolin, N; Comi, Gp; Rothstein, R; Schon, Ea; Dimauro, S.
MELAS-like phenotype in a patient with complex III deficiency and a new cytochrome b mutation
2001-01-01 Musumeci, Olimpia; Hadjigeorgiou, Gm; Garcia Alvarez, M; Pallotti, F; Krishna, S; Shanske, S; Dimauro, S.
Calpain 3 expression in limb-girdle muscular dystrophy type 2A (LGMD 2A).
2001-01-01 Aguennouz, M'Hammed; Monici, Mc; Musumeci, Olimpia; Rodolico, Carmelo; Ciranni, A; Toscano, Antonio; Vita, G.
Unclassified cerebellar ataxia and Coenzyme Q10 deficiency
2001-01-01 Musumeci, Olimpia; Naini, A; Slonim, Ae; Tsao, Cy; Mendell, Jr; De Vivo, Dc; Hirano, M; Dimauro, S.
Skeletal muscle lipid storage and mitochondrial beta-oxidation.
2001-01-01 Toscano, Antonio; Aguennouz, M'Hammed; Rodolico, Carmelo; Ciranni, A; Autunno, M; Musumeci, Olimpia; Vita, G.
Coenzyme Q10 deficiency in previously unclassified cerebellar ataxia
2001-01-01 Musumeci, Olimpia; Naini, A; Slonim, Ae; Tsao, Cy; Mendell, Jr; De Vivo, Dc; Hirano, M; Dimauro, S.
Clinical heterogeneity and molecular basis of myoadenilate deaminase deficiency
2001-01-01 Aguennouz, M'Hammed; Rodolico, Carmelo; Ciranni, A; Migliorato, A; Musumeci, Olimpia; Vita, G; Toscano, Antonio
Two novel mutations in the myophosphorylase gene in Yemenite-Jewish families
2001-01-01 Hadjigeorgiou, Gm; Musumeci, Olimpia; Sadeh, M; Daddy, R; Papadimitiou, A; Shanske, S; Dimauro, S.
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
A cytochemical study of apoptosis in metabolic myopathies | 1-gen-1997 | Monici, Mc; Migliorato, A; Toscano, Antonio; Musumeci, Olimpia; Aguennouz, M'Hammed; Vita, G. | |
Toxic myopathy with rhabdomyolysis after quail poisoning | 1-gen-1997 | Musumeci, Olimpia; Toscano, Antonio; Aguennouz, M'Hammed; M. C., Monici; Gallitto, Giuseppe; Tisano, Adriana; Rodolico, Carmelo; M., Valenti | |
A benign case of congenital myotonic dystrophy | 1-gen-1998 | Musumeci, Olimpia; Toscano, Antonio; Condorelli, D; Trovato Salinaro, A; Spinella, F; Cordaro, S; Bonsignore, M; Vita, G. | |
Central and perypheral nervous system involvement in hereditary coproporphyria. | 1-gen-1998 | Rodolico, Carmelo; Toscano, Antonio; Valenti, M.; Musumeci, Olimpia; Macaione, Vincenzo; Vita, Giuseppe | |
Apoptosis in metabolic myopathies | 1-gen-1998 | Monici, Mc; Toscano, Antonio; Girlanda, Paolo; Aguennouz, M'Hammed; Musumeci, Olimpia; Vita, Giuseppe | |
Lipid peroxidation, free radicals and antioxidants in patients with myotonic distrophy. | 1-gen-1999 | Toscano, Antonio; Annesi, G.; Campo, Giuseppe Maurizio; Musumeci, Olimpia; Rodolico, Carmelo; Spadafora, P.; Pasqua, A. A.; Annesi, F.; Annesi, A.; Caputi, A.; Vita, G. . | |
Power spectral analysis of heart rate in myotonic dystrophy | 1-gen-1999 | Di Leo, R; Vita, G.; Rodolico, Carmelo; Musumeci, Olimpia; Toscano, Antonio; Messina, C. | |
A novel mutation in the mitochondrial DNA transfer ribonucleic acidAsp gene in a child with myoclonic epilepsy and psychomotor regression. | 1-gen-1999 | Shtilbans, A; El Schahawi, M; Malkin, E; Shanske, S; Musumeci, Olimpia; Dimauro, S. | |
Clinical eterogeneity and molecular basis of myoadenilate deaminase deficiency. | 1-gen-2000 | Aguennouz, M'Hammed; Rodolico, Carmelo; Ciranni, A; Migliorato, A; Musumeci, Olimpia; Vita, G; Toscano, Antonio | |
Clinical hetrogeneity and molecular basis of myoadenilate deaminase deficiency | 1-gen-2000 | Aguennouz, M'Hammed; Rodolico, Carmelo; Ciranni, A; Migliorato, A; Musumeci, Olimpia; Vita, G; Toscano, Antonio | |
Clinical spectrum of muscle Coenzyme Q10 deficiency | 1-gen-2000 | Musumeci, Olimpia; Hirano, M; Naini, A; Shanske, S; Dimauro, S. | |
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease. | 1-gen-2000 | Fernández, R; Navarro, C; Andreu, Al; Bruno, C; Shanske, S; Gámez, J; Teijeira, S; Hernández, I; Teijeiro, A; Fernández, Jm; Musumeci, Olimpia; Dimauro, S. | |
Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy. | 1-gen-2000 | Musumeci, Olimpia; Andreu, Al; Shanske, S; Bresolin, N; Comi, Gp; Rothstein, R; Schon, Ea; Dimauro, S. | |
MELAS-like phenotype in a patient with complex III deficiency and a new cytochrome b mutation | 1-gen-2001 | Musumeci, Olimpia; Hadjigeorgiou, Gm; Garcia Alvarez, M; Pallotti, F; Krishna, S; Shanske, S; Dimauro, S. | |
Calpain 3 expression in limb-girdle muscular dystrophy type 2A (LGMD 2A). | 1-gen-2001 | Aguennouz, M'Hammed; Monici, Mc; Musumeci, Olimpia; Rodolico, Carmelo; Ciranni, A; Toscano, Antonio; Vita, G. | |
Unclassified cerebellar ataxia and Coenzyme Q10 deficiency | 1-gen-2001 | Musumeci, Olimpia; Naini, A; Slonim, Ae; Tsao, Cy; Mendell, Jr; De Vivo, Dc; Hirano, M; Dimauro, S. | |
Skeletal muscle lipid storage and mitochondrial beta-oxidation. | 1-gen-2001 | Toscano, Antonio; Aguennouz, M'Hammed; Rodolico, Carmelo; Ciranni, A; Autunno, M; Musumeci, Olimpia; Vita, G. | |
Coenzyme Q10 deficiency in previously unclassified cerebellar ataxia | 1-gen-2001 | Musumeci, Olimpia; Naini, A; Slonim, Ae; Tsao, Cy; Mendell, Jr; De Vivo, Dc; Hirano, M; Dimauro, S. | |
Clinical heterogeneity and molecular basis of myoadenilate deaminase deficiency | 1-gen-2001 | Aguennouz, M'Hammed; Rodolico, Carmelo; Ciranni, A; Migliorato, A; Musumeci, Olimpia; Vita, G; Toscano, Antonio | |
Two novel mutations in the myophosphorylase gene in Yemenite-Jewish families | 1-gen-2001 | Hadjigeorgiou, Gm; Musumeci, Olimpia; Sadeh, M; Daddy, R; Papadimitiou, A; Shanske, S; Dimauro, S. |
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