Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice von GROMPE, M, MUHSEN AL-DHALIMY, FINEGOLD, M, CHING-NAN OU, BURLINGAME, T, KENNAWAY, N. G, SORIANO, P

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Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I von Grompe, Markus, Lindstedt, Sven, Al-Dhalimy, Muhsen, Kennaway, Nancy G, Papaconstantinou, John, Torres-Ramos, Carlos A, Ou, Ching-Nau, Finegold, Milton

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Aerobic conditioning in patients with mitochondrial myopathies: Physiological, biochemical, and genetic effects von Taivassalo, Tanja, Shoubridge, Eric A., Chen, Jacqueline, Kennaway, Nancy G., DiMauro, Salvatore, Arnold, Douglas L., Haller, Ronald G.

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Remarkable improvement in adult Leigh syndrome with partial cytochrome c oxidase deficiency von GOLDENBERG, P. C, STEINER, R. D, MERKENS, L. S, DUNAWAY, T, EGAN, R. A, ZIMMERMAN, E. A, NESBIT, G, ROBINSON, B, KENNAWAY, N. G

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A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria von Keightley, J. Andrew, Hoffbuhr, Kristen C, Burton, Miriam D, Salas, Virginia M, Johnston, Wendy S.W, Penn, Andrew M.W, Buist, Neil R.M, Kennaway, Nancy G

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Mitochondrial Encephalomyopathy and Complex III Deficiency Associated with a Stop-Codon Mutation in the Cytochrome b Gene von Keightley, J. Andrew, Anitori, Roberto, Burton, Miriam D., Quan, Franklin, Buist, Neil R.M., Kennaway, Nancy G.

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The spectrum of exercise tolerance in mitochondrial myopathies: a study of 40 patients von Taivassalo, Tanja, Dysgaard Jensen, Tina, Kennaway, Nancy, DiMauro, Salvatore, Vissing, John, Haller, Ronald G.

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A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy von Ogilvie, Isla, Kennaway, Nancy G, Shoubridge, Eric A

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Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency : abnormalities of several iron-sulfur proteins von HALL, R. E, HENRIKSSON, K. G, LEWIS, S. F, HALLER, R. G, KENNAWAY, N. G

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A Pathogenic 15-Base Pair Deletion in Mitochondrial DNA-encoded Cytochrome c Oxidase Subunit III Results in the Absence of Functional Cytochrome c Oxidase von Hoffbuhr, Kristen C., Davidson, Edgar, Filiano, Beth A., Davidson, Mercy, Kennaway, Nancy G., King, Michael P.

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Diabetes and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (melas) : Radiolabeled polymerase chain reaction is necessary for accurate detection of l... von SMITH, M. L, HUA, X.-Y, MARSDEN, D. L, LIU, D, KENNAWAY, N. G, NGO, K.-Y, HAAS, R. H

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Mutations in COX15 Produce a Defect in the Mitochondrial Heme Biosynthetic Pathway, Causing Early-Onset Fatal Hypertrophic Cardiomyopathy von Antonicka, Hana, Mattman, Andre, Carlson, Christopher G., Glerum, D. Moira, Hoffbuhr, Kristen C., Leary, Scot C., Kennaway, Nancy G., Shoubridge, Eric A.

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Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in Gyrate atrophy von MASHIMA, Y, MURAKAMI, A, WELEBER, R. G, KENNAWAY, N. G, CLARKE, L, SHIONO, T, INANA, G

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Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency von Antonicka, Hana, Leary, Scot C., Guercin, Guy-Hellen, Agar, Jeffrey N., Horvath, Rita, Kennaway, Nancy G., Harding, Cary O., Jaksch, Michaela, Shoubridge, Eric A.

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Identification and Characterization of a Common Set of Complex I Assembly Intermediates in Mitochondria from Patients with Complex I Deficiency von Antonicka, Hana, Ogilvie, Isla, Taivassalo, Tanja, Anitori, Roberto P., Haller, Ronald G., Vissing, John, Kennaway, Nancy G., Shoubridge, Eric A.

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Tissue distribution of cytochrome c oxidase isoforms in mammals. Characterization with monoclonal and polyclonal antibodies von Taanaman, Jan-Willem, Hall, Robin E., Tang, Chunlin, Marusich, Michael F., Kennaway, Nancy G., Capaldi, Roderick A.

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Effect of ascorbate or N-acetylcysteine treatment in a patient with hereditary glutathione synthetase deficiency von Jain, Ajey, Buist, Neil R.M., Kennaway, Nancy G., Powell, Berkley R., Auld, Peter A.M., Mårtensson, Johannes

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Fatal cardiomyopathy associated with 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency von Gibson, K. M., Cassidy, S. B., Seaver, L. H., Wanders, R. J. A., Kennaway, N. G., Mitchell, G. A., Spark, R. P.

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Deficiency of skeletal muscle succinate dehydrogenase and aconitase : pathophysiology of exercise in a novel human muscle oxidative defect von HALLER, R. G, HENRIKSSON, K. G, HALL, R. E, THUILLIER, P, KENNAWAY, N. G, LEWIS, S. F, JORFELDT, L, HULTMAN, E, WIBOM, R, SAHLIN, K, ARESKOG, N.-H, GUNDER, M, AYYAD, K, BLOMQVIST, C. G

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Subunit specific monoclonal antibodies show different steady-state levels of various cytochrome- c oxidase subunits in chronic progressive external ophthalmoplegia von Taanman, Jan-Willem, Burton, Miriam D., Marusich, Michael F., Kennaway, Nancy G., Capaldi, Roderick A.

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