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Heteroplasmic 24-base pair deletion in the mitochondrial cytochrome b gene in a patient with isolated myopathy 1-gen-1999 Andreu, Al; Pallotti, Francesco; Bruno, C; Hadjigeorgiou, Gm; Manfredi, G; Sue, Cm; Shanske, S; Tanji, K; Bonilla, E; Dimauro, S.
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV 1-gen-1999 Bruno, C; Martinuzzi, A; Tang, Yy; Andreu, Al; Pallotti, Francesco; Bonilla, E; Shanske, S; Fu, J; Sue, Cm; Angelini, C; Dimauro, S; Manfredi, G.
Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA 1-gen-1999 Andreu, Al; Hanna, Mg; Reichmann, H; Bruno, C; Penn, As; Tanji, K; Pallotti, Francesco; Iwata, S; Bonilla, E; Lach, B; MORGAN HUGHES, J; Dimauro, S.
Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2 1-gen-2000 Sue, Cm; Karadimas, C; Checcarelli, N; Tanji, K; Papadopoulou, Lc; Pallotti, Francesco; Guo, Fl; Shanske, S; Hirano, M; DE VIVO, Dc; VAN COSTER, R; Kaplan, P; Bonilla, E; Dimauro, S.
Analysis of mtDNA deletions in muscle by in situ hybridization 1-gen-2000 Vu, Th; Tanji, K; Pallotti, Francesco; Golzi, V; Hirano, M; Dimauro, S; Bonilla, E.
Comparison of clinical features in patients with COX assembly gene mutations 1-gen-2000 Sue, Cm; Karadimas, Cl; Checarelli, N; Tanji, K; Papadopoulou, Lc; Pallotti, Francesco; Shanske, S; Hirano, M; DE VIVO, Dc; VAN COSTER, R; Kaplan, P; Bonilla, E; DI MAURO, S.
Pathogenesis of primary defects in mitochondrial ATP synthesis 1-gen-2001 Schon, Ea; Santra, S; Pallotti, Francesco; Girvin, Me
Isolation and subfractionation of mitochondria from animal cells and tissue culture lines. 1-gen-2001 Pallotti, Francesco; Lenaz, G.
MELAS-like phenotype in a patient with complex III deficiency and a new cytochrome b mutation 1-gen-2001 Musumeci, O; Hadjigeorgiou, G; Alvarez, Mg; Pallotti, Francesco; Krisna, S; Shanske, S; DI MAURO, S.
In vivo regulation of oxidative phosphorylation in cells harboring a stop-codon mutation in mitochondrial DNA-encoded cytochrome c oxidase subunit I 1-gen-2001 D'Aurelio, M; Pallotti, Francesco; Barrientos, A; Gajewski, Cd; Kwong, Jq; Bruno, C; Beal, Mf; Manfredi, G.
Mitochondrial abnormalities in muscle and other aging cells: Classification, causes, and effects 1-gen-2002 Dimauro, S; Tanji, K; Bonilla, E; Pallotti, Francesco; Schon, Ea
Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy 1-gen-2002 Valentino, Ml; Avoni, P; Barboni, P; Pallotti, Francesco; Rengo, C; Torroni, A; Bellan, M; Baruzzi, A; Carelli, V.
Cure of a mitochondrial deficiency causing leber hereditary optic neuropathy? 1-gen-2002 Guy, J; Qi, Xp; Lewin, A; Pallotti, Francesco; Schon, Ea; Manfredi, G; Carelli, V; Martinuzzi, A; Hauswirth, Ww
Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy 1-gen-2002 Lodi, R; Carelli, V; Cortelli, P; Lotti, S; Valentino, Ml; Barboni, P; Pallotti, Francesco; Montagna, P; Barbiroli, B.
Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation 1-gen-2002 Giordano, C; Pallotti, Francesco; Walker, Wf; Checcarelli, N; Musumeci, O; Santorelli, F; D'Amati, G; Schon, Ea; Dimauro, S; Hirano, M; Davidson, Mm
Gene therapy with the ND4 subunit gene recoded in the universal genetic code reverses a mitochondrial deficiency causing Leber hereditary optic neuropathy (LHON) 1-gen-2002 Guy, J; Carelli, V; Lewin, A; Qi, Xp; Martinuzzi, A; Schon, E; Manfredi, G; Pallotti, Francesco; Hauswirth, W.
Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy 1-gen-2002 Guy, J; Qi, Xp; Pallotti, Francesco; Schon, Ea; Manfredi, G; Carelli, V; Martinuzzi, A; Hauswirth, Ww; Lewin, As
Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation 1-gen-2002 Carelli, V; Baracca, A; Barogi, S; Pallotti, Francesco; Valentino, Ml; Montagna, P; Zeviani, M; Pini, A; Lenaz, G; Baruzzi, A; Solaini, G.
Gene therapy with the ND4 subunit gene recoded in the universal genetic code reverses a mitochondrial deficiency causing Leber Hereditary optic neuropathy. 54Th Annual Meeting of the America Academy of Neurology. Denver (USA) 15-20 aprile 2002 1-gen-2002 Guy, J; Carelli, V; Lewin, A; Qi, X; Martinuzzi, A; Manfredi, G; Pallotti, Francesco; Hauswirth, W.
Identification of a novel mutation in Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis 1-gen-2002 Naini, A; Musumeci, O; Hayes, L; Pallotti, Francesco; DEL BENE, M; Mitsumoto, H.
Mostrati risultati da 21 a 40 di 134
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