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Results: 1-18 |
Results: 18
Mitochondrial DNA mutations in human disease
Authors: Dimauro, S Schon, EA
Citation: S. Dimauro et Ea. Schon, Mitochondrial DNA mutations in human disease, AM J MED G, 106(1), 2001, pp. 18-26
Both heavy strand replication origins are active in partially duplicated human mitochondrial DNAs
Authors: Umeda, S Tang, YY Okamoto, M Hamasaki, N Schon, EA Kang, DC
Citation: S. Umeda et al., Both heavy strand replication origins are active in partially duplicated human mitochondrial DNAs, BIOC BIOP R, 286(4), 2001, pp. 681-687
Mitochondrial encephalomyopathies: therapeutic approaches
Authors: DiMauro, S Hirano, M Schon, EA
Citation: S. Dimauro et al., Mitochondrial encephalomyopathies: therapeutic approaches, NEUROL SCI, 21(5), 2000, pp. S901-S908
Maintenance of human rearranged mitochondrial DNAs in long-term cultured transmitochondrial cell lines
Authors: Tang, YY Manfredi, G Hirano, M Schon, EA
Citation: Yy. Tang et al., Maintenance of human rearranged mitochondrial DNAs in long-term cultured transmitochondrial cell lines, MOL BIOL CE, 11(7), 2000, pp. 2349-2358
Rearrangements of human mitochondrial DNA (mtDNA): New insights into the regulation of mtDNA copy number and gene expression
Authors: Tang, YY Schon, EA Wilichowski, E Vazquez-Memije, ME Davidson, E King, MP
Citation: Yy. Tang et al., Rearrangements of human mitochondrial DNA (mtDNA): New insights into the regulation of mtDNA copy number and gene expression, MOL BIOL CE, 11(4), 2000, pp. 1471-1485
Mitochondrial respiratory chain diseases and mutations in nuclear DNA: A promising start?
Authors: Sue, CM Schon, EA
Citation: Cm. Sue et Ea. Schon, Mitochondrial respiratory chain diseases and mutations in nuclear DNA: A promising start?, BRAIN PATH, 10(3), 2000, pp. 442-450
Mitochondrial genetics and disease
Authors: Schon, EA
Citation: Ea. Schon, Mitochondrial genetics and disease, TRENDS BIOC, 25(11), 2000, pp. 555-560
Kearns-Sayre syndrome: oncocytic transformation of choroid plexus epithelium
Authors: Tanji, K Schon, EA DiMauro, S Bonilla, E
Citation: K. Tanji et al., Kearns-Sayre syndrome: oncocytic transformation of choroid plexus epithelium, J NEUR SCI, 178(1), 2000, pp. 29-36
A human SCO2 mutation helps define the role of Sco1p in the cytochrome oxidase assembly pathway
Authors: Dickinson, EK Adams, DL Schon, EA Glerum, DM
Citation: Ek. Dickinson et al., A human SCO2 mutation helps define the role of Sco1p in the cytochrome oxidase assembly pathway, J BIOL CHEM, 275(35), 2000, pp. 26780-26785
Intragenic inversion of mtDNA: A new type of pathogenic mutation in a patient with mitochondrial myopathy
Authors: Musumeci, O Andreu, AL Shanske, S Bresolin, N Comi, GP Rothstein, R Schon, EA DiMauro, S
Citation: O. Musumeci et al., Intragenic inversion of mtDNA: A new type of pathogenic mutation in a patient with mitochondrial myopathy, AM J HU GEN, 66(6), 2000, pp. 1900-1904
A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency
Authors: Brini, M Pinton, P King, MP Davidson, M Schon, EA Rizzuto, R
Citation: M. Brini et al., A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency, NAT MED, 5(8), 1999, pp. 951-954
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
Authors: Papadopoulou, LC Sue, CM Davidson, MM Tanji, K Nishino, I Sadlock, JE Krishna, S Walker, W Selby, J Glerum, DM Van Coster, R Lyon, G Scalais, E Lebel, R Kaplan, P Shanske, S De Vivo, DC Bonilla, E Hirano, M DiMauro, S Schon, EA
Citation: Lc. Papadopoulou et al., Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene, NAT GENET, 23(3), 1999, pp. 333-337
Mitochondrial DNA genotypes in nuclear transfer-derived cloned sheep
Authors: Evans, MJ Gurer, C Loike, JD Wilmut, I Schnieke, AE Schon, EA
Citation: Mj. Evans et al., Mitochondrial DNA genotypes in nuclear transfer-derived cloned sheep, NAT GENET, 23(1), 1999, pp. 90-93
Kearns-Sayre syndrome: Unusual pattern of expression of subunits of the respiratory chain in the cerebellar system
Authors: Tanji, K Vu, TH Schon, EA DiMauro, S Bonilla, E
Citation: K. Tanji et al., Kearns-Sayre syndrome: Unusual pattern of expression of subunits of the respiratory chain in the cerebellar system, ANN NEUROL, 45(3), 1999, pp. 377-383
Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene
Authors: Manfred, G Gupta, N Vazquez-Memije, ME Sadlock, JE Spinazzola, A De Vivo, DC Schon, EA
Citation: G. Manfred et al., Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene, J BIOL CHEM, 274(14), 1999, pp. 9386-9391
Mitochondrial involvement in Alzheimer's disease
Authors: Bonilla, E Tanji, K Hirano, M Vu, TH DiMauro, S Schon, EA
Citation: E. Bonilla et al., Mitochondrial involvement in Alzheimer's disease, BBA-BIOENER, 1410(2), 1999, pp. 171-182
Deletions of mitochondrial DNA in Kearns-Sayre syndrome (Reprinted from Neurology, vol 38, pg 1339-1346, 1988)
Authors: Zeviani, M Moraes, CT DiMauro, S Nakase, H Bonilla, E Schon, EA Rowland, LP
Citation: M. Zeviani et al., Deletions of mitochondrial DNA in Kearns-Sayre syndrome (Reprinted from Neurology, vol 38, pg 1339-1346, 1988), NEUROLOGY, 51(6), 1998, pp. 1339-1346
Deletions of mitochondrial DNA in Kearns-Sayre syndrome
Authors: Zeviani, M Moraes, CT DiMauro, S Nakase, H Bonilla, E Schon, EA Rowland, LP
Citation: M. Zeviani et al., Deletions of mitochondrial DNA in Kearns-Sayre syndrome, NEUROLOGY, 51(6), 1998, pp. 1525-1525
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