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Results: 1-19 |
Results: 19
Selection of a mtDNA sequence variant in hepatocytes of heteroplasmic miceis not due to differences in respiratory chain function or efficiency of replication
Authors: Battersby, BJ Shoubridge, EA
Citation: Bj. Battersby et Ea. Shoubridge, Selection of a mtDNA sequence variant in hepatocytes of heteroplasmic miceis not due to differences in respiratory chain function or efficiency of replication, HUM MOL GEN, 10(22), 2001, pp. 2469-2479
Nuclear genetic defects of oxidative phosphorylation
Authors: Shoubridge, EA
Citation: Ea. Shoubridge, Nuclear genetic defects of oxidative phosphorylation, HUM MOL GEN, 10(20), 2001, pp. 2277-2284
Aerobic conditioning in patients with mitochondrial myopathies: Physiological, biochemical, and genetic effects
Authors: Taivassalo, T Shoubridge, EA Chen, J Kennaway, NG DiMauro, S Arnold, DL Haller, RG
Citation: T. Taivassalo et al., Aerobic conditioning in patients with mitochondrial myopathies: Physiological, biochemical, and genetic effects, ANN NEUROL, 50(2), 2001, pp. 133-141
Nuclear gene defects in respiratory chain disorders
Authors: Shoubridge, EA
Citation: Ea. Shoubridge, Nuclear gene defects in respiratory chain disorders, SEM NEUROL, 21(3), 2001, pp. 261-267
Cytochrome c oxidase deficiency
Authors: Shoubridge, EA
Citation: Ea. Shoubridge, Cytochrome c oxidase deficiency, AM J MED G, 106(1), 2001, pp. 46-52
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy
Authors: Jaksch, M Horvath, R Horn, N Auer, DP Macmillan, C Peters, J Gerbitz, KD Kraegeloh-Mann, I Muntau, A Karcagi, V Kalmanchey, R Lochmuller, H Shoubridge, EA Freisinger, P
Citation: M. Jaksch et al., Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy, NEUROLOGY, 57(8), 2001, pp. 1440-1446
Mutations in SURF1 are not specifically associated with Leigh syndrome
Authors: Von Kleist-Retzow, JC Yao, JB Taanman, JW Chantrel, K Chretien, D Cormier-Daire, V Rotig, A Munnich, A Rustin, P Shoubridge, EA
Citation: Jc. Von Kleist-retzow et al., Mutations in SURF1 are not specifically associated with Leigh syndrome, J MED GENET, 38(2), 2001, pp. 109-113
Mouse CLK-1 is imported into mitochondria by an unusual process that requires a leader sequence but no membrane potential
Authors: Jiang, N Levavasseur, F McCright, B Shoubridge, EA Hekimi, S
Citation: N. Jiang et al., Mouse CLK-1 is imported into mitochondria by an unusual process that requires a leader sequence but no membrane potential, J BIOL CHEM, 276(31), 2001, pp. 29218-29225
Unusual imaging findings in progressive myoclonus epilepsy
Authors: Marrie, RA Shoubridge, EA Antel, JP Arnold, DL Chen, J Andermann, E Andermann, F
Citation: Ra. Marrie et al., Unusual imaging findings in progressive myoclonus epilepsy, EPILEPSIA, 42(3), 2001, pp. 430-432
A debut for mito-mouse
Authors: Shoubridge, EA
Citation: Ea. Shoubridge, A debut for mito-mouse, NAT GENET, 26(2), 2000, pp. 132-134
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency
Authors: Jaksch, M Ogilvie, I Yao, JB Kortenhaus, G Bresser, HG Gerbitz, KD Shoubridge, EA
Citation: M. Jaksch et al., Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency, HUM MOL GEN, 9(5), 2000, pp. 795-801
Oxidative phosphorylation defect in the brains of carriers of the tRNA(leu(UUR)) A3243G mutation in a MELAS pedigree
Authors: Dubeau, F De Stefano, N Zifkin, BG Arnold, DL Shoubridge, EA
Citation: F. Dubeau et al., Oxidative phosphorylation defect in the brains of carriers of the tRNA(leu(UUR)) A3243G mutation in a MELAS pedigree, ANN NEUROL, 47(2), 2000, pp. 179-185
Missense mutations in SURF1 associated with deficient cytochrome c oxidaseassembly in Leigh syndrome patients
Authors: Poyau, A Buchet, K Bouzidi, MF Zabot, MT Echenne, B Yao, JB Shoubridge, EA Godinot, C
Citation: A. Poyau et al., Missense mutations in SURF1 associated with deficient cytochrome c oxidaseassembly in Leigh syndrome patients, HUM GENET, 106(2), 2000, pp. 194-205
Leber's hereditary optic neuropathy presenting as multiple sclerosis-like disease of the CNS
Authors: Horvath, R Abicht, A Shoubridge, EA Karcagi, V Rozsa, C Komoly, S Lochmuller, H
Citation: R. Horvath et al., Leber's hereditary optic neuropathy presenting as multiple sclerosis-like disease of the CNS, J NEUROL, 247(1), 2000, pp. 65-67
Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency
Authors: Horvath, R Lochmuller, H Stucka, R Yao, JB Shoubridge, EA Kim, SH Gerbitz, KD Jaksch, M
Citation: R. Horvath et al., Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency, BIOC BIOP R, 276(2), 2000, pp. 530-533
Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect
Authors: Macmillan, C Johns, TA Fu, K Shoubridge, EA
Citation: C. Macmillan et al., Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect, AM J HU GEN, 66(1), 2000, pp. 332-335
Gene shifting: a novel therapy for mitochondrial myopathy
Authors: Taivassalo, T Fu, K Johns, T Arnold, D Karpati, G Shoubridge, EA
Citation: T. Taivassalo et al., Gene shifting: a novel therapy for mitochondrial myopathy, HUM MOL GEN, 8(6), 1999, pp. 1047-1052
Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency
Authors: Yao, JB Shoubridge, EA
Citation: Jb. Yao et Ea. Shoubridge, Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency, HUM MOL GEN, 8(13), 1999, pp. 2541-2549
Expression of the E6 and E7 genes of human papillomavirus (HPV16) extends the life span of human myoblasts
Authors: Lochmuller, H Johns, T Shoubridge, EA
Citation: H. Lochmuller et al., Expression of the E6 and E7 genes of human papillomavirus (HPV16) extends the life span of human myoblasts, EXP CELL RE, 248(1), 1999, pp. 186-193
Risultati: 1-19 |