Mitochondria von Chinnery, P F, Schon, E A

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Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2 , a COX assembly gene von Schon, Eric A, Papadopoulou, Lefkothea C, Sue, Carolyn M, Davidson, Mercy M, Tanji, Kurenai, Nishino, Ichizo, Sadlock, James E, Krishna, Sindu, Walker, Winsome, Selby, Jeanette, Glerum, D. Moira, Coster, Rudy Van, Lyon, Gilles, Scalais, Emmanuel, Lebel, Roger, Kaplan, Paige, Shanske, Sara, De Vivo, Darryl C, Bonilla, Eduardo, Hirano, Michio, DiMauro, Salvatore

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Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy von Sciacco, Monica, Bonilla, Eduardo, Schon, Eric A., DiMauro, Salvatore, Moraes, Carlos T.

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Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy von Arnaudo, E., Shanske, S., DiMauro, S., Schon, E.A., Moraes, C.T., Schon, E.A., Dalakas, M.

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Clinical manifestations of mitochondrial DNA depletion von VU, T. H, SCIACCO, M, SHARER, L, SCHON, E. A, DIMAURO, S, DEVIVO, D. C, TANJI, K, NICHTER, C, BONILLA, E, CHATKUPT, S, MAERTENS, P, SHANSKE, S, MENDELL, J, KOENIGSBERGER, M. R

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MELAS: Clinical features, biochemistry, and molecular genetics von Ciafaloni, E., Ricci, E., Shanske, S., Moraes, C. T., Silvestri, G., Hirano, M., Simonetti, S., Angelini, C., Donati, M. A., Garcia, C., Martinuzzi, A., Mosewich, R., Servidei, S., Zammarchi, E., Bonilla, E., DeVivo, D. C., Rowland, L. P., Schon, E. A., DiMauro, S.

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Rearranged mitochondrial genomes are present in human oocytes von XI CHEN, PROSSER, R, SIMONETTI, S, SADLOCK, J, JAGIELLO, G, SCHON, E. A

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Evidence that specific mtDNA point mutations may not accumulate in skeletal muscle during normal human aging von PALLOTTI, F, CHEN, X, BONILLA, E, SCHON, E. A

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Detection of "Deleted" Mitochondrial Genomes in Cytochrome-c Oxidase-Deficient Muscle Fibers of a Patient with Kearns-Sayre Syndrome von Mita, Shuji, Schmidt, Beny, Schon, Eric A., DiMauro, Salvatore, Bonilla, Eduardo

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Mitochondrial genetics and disease von Schon, E A

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Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses von CARROZZO, R, HIRANO, M, FROMENTY, B, CASALI, C, SANTORELLI, F. M, BONILLA, E, DIMAURO, S, SCHON, E. A, MIRANDA, A. F

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Mitochondrial DNA and respiratory chain function in spinal cords of ALS patients von Wiedemann, Falk R., Manfredi, Giovanni, Mawrin, Christian, Beal, M. Flint, Schon, Eric A.

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mtDNA depletion with variable tissue expression : a novel genetic abnormality in mitochondrial diseases von MORAES, C. T, SHANSKE, S, TRITSCHLER, H.-J, APRILLE, J. R, ANDREETTA, F, BONILLA, E, SCHON, E. A, DIMAURO, S

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Rescue of a deficiency in ATP synthesis by transfer of MTATP6 , a mitochondrial DNA-encoded gene, to the nucleus von Schon, Eric A, Manfredi, Giovanni, Fu, Jin, Ojaimi, Joseline, Sadlock, James E, Kwong, Jennifer Q, Guy, John

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Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR von Simonetti, Simonetta, Chen, Xi, DiMauro, Salvatore, Schon, Eric A.

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The Fate of Human Sperm-Derived mtDNA in Somatic Cells von Manfredi, Giovanni, Thyagarajan, Dominic, Papadopoulou, Lefkothea C., Pallotti, Francesco, Schon, Eric A.

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Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA von MITA, S, RIZZUTO, R, MORAES, C. T, SHANSKE, S, ARNAUDO, E, FABRIZI, G. M, KOGA, Y, DIMAURO, S, SCHON, E. A

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Kearns-Sayre syndrome: Unusual pattern of expression of subunits of the respiratory chain in the cerebellar system von Tanji, Kurenai, Vu, Tuan H., Schon, Eric A., DiMauro, Salvatore, Bonilla, Eduardo

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A Gene Specifying Subunit VIII of Human Cytochrome c Oxidase Is Localized to Chromosome 11 and Is Expressed in Both Muscle and Non-muscle Tissues von Rizzuto, R, Nakase, H, Darras, B, Francke, U, Fabrizi, G M, Mengel, T, Walsh, F, Kadenbach, B, DiMauro, S, Schon, E A

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A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene von Manfredi, G., Schon, E.A., Moraes, C.T., Bonilla, E., Berry, G.T., Sladky, J.T., Dimauro, S.

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