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Results: 1-25 | 26-34 |
Results: 26-34/34
Molecular characterization of McArdle's disease in two large Finnish families
Authors: Bruno, C Lofberg, M Tamburino, L Jankala, H Hadjigeorgiou, GM Andreu, AL Shanske, S Somer, H DiMauro, S
Citation: C. Bruno et al., Molecular characterization of McArdle's disease in two large Finnish families, J NEUR SCI, 165(2), 1999, pp. 121-125
A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy
Authors: Hadjigeorgiou, GM Kim, SH Fischbeck, KH Andreu, AL Berry, GT Bingham, P Shanske, S Bonilla, E DiMauro, S
Citation: Gm. Hadjigeorgiou et al., A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy, J NEUR SCI, 164(2), 1999, pp. 153-157
The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy
Authors: Bruno, C Kirby, DM Koga, Y Garavaglia, B Duran, G Santorelli, FM Shield, LK Xia, WL Shanske, S Goldstein, JD Iwanaga, R Akita, Y Carrara, F Davis, A Zeviani, M Thorburn, DR DiMauro, S
Citation: C. Bruno et al., The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy, J PEDIAT, 135(2), 1999, pp. 197-202
Infantile encephalopathy associated with the MELAS A3243G mutation
Authors: Sue, CM Bruno, C Andreu, AL Cargan, A Mendell, JR Tsao, CY Luquette, M Paolicchi, J Shanske, S DiMauro, S De Vivo, DC
Citation: Cm. Sue et al., Infantile encephalopathy associated with the MELAS A3243G mutation, J PEDIAT, 134(6), 1999, pp. 696-700
Microanalysis of cardiolipin in small biopsies including skeletal muscle from patients with mitochondrial disease
Authors: Schlame, M Shanske, S Doty, S Konig, T Sculco, T DiMauro, S Blanck, TJJ
Citation: M. Schlame et al., Microanalysis of cardiolipin in small biopsies including skeletal muscle from patients with mitochondrial disease, J LIPID RES, 40(9), 1999, pp. 1585-1592
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV
Authors: Bruno, C Martinuzzi, A Tang, YY Andreu, AL Pallotti, F Bonilla, E Shanske, S Fu, J Sue, CM Angelini, C DiMauro, S Manfredi, G
Citation: C. Bruno et al., A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV, AM J HU GEN, 65(3), 1999, pp. 611-620
Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993
Authors: White, SL Collins, VR Wolfe, R Cleary, MA Shanske, S DiMauro, S Dahl, HHM Thorburn, DR
Citation: Sl. White et al., Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993, AM J HU GEN, 65(2), 1999, pp. 474-482
The mitochondrial DNA A8344G mutation in leigh syndrome revealed by analysis in paraffin-embedded sections: Revisiting the past
Authors: Santorelli, FM Tanji, K Shanske, S Krishna, S Schmidt, RE Greenwood, RS DiMauro, S De Vivo, DC
Citation: Fm. Santorelli et al., The mitochondrial DNA A8344G mutation in leigh syndrome revealed by analysis in paraffin-embedded sections: Revisiting the past, ANN NEUROL, 44(6), 1998, pp. 962-964
Comparative biochemical studies of ATPases in cells from patients with theT8993G or T8993C mitochondrial DNA mutations
Authors: Vazquez-Memije, ME Shanske, S Santorelli, FM Kranz-Eble, P DeVivo, DC DiMauro, S
Citation: Me. Vazquez-memije et al., Comparative biochemical studies of ATPases in cells from patients with theT8993G or T8993C mitochondrial DNA mutations, J INH MET D, 21(8), 1998, pp. 829-836
Risultati: 1-25 | 26-34 |