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Results: 1-25 | 26-27
Results: 1-25/27
A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy
Authors: Campos, Y Gamez, J Garcia, A Andreu, AL Rubio, JC Martin, MA del Hoyo, P Navarro, C Cervera, C Garesse, R Arenas, J
Citation: Y. Campos et al., A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy, NEUROMUSC D, 11(5), 2001, pp. 477-480
Mutations in mitochondrial DNA as a cause of exercise intolerance
Authors: DiMauro, S Andreu, AL
Citation: S. Dimauro et Al. Andreu, Mutations in mitochondrial DNA as a cause of exercise intolerance, ANN MED, 33(7), 2001, pp. 472-476
Exercise intolerance resulting from a muscle-restricted mutation in the mitochondrial tRNA(Leu (CUN)) gene
Authors: Vives-Bauza, C Gamez, J Roig, M Briones, P Cervera, C Solano, A Montoya, J Andreu, AL
Citation: C. Vives-bauza et al., Exercise intolerance resulting from a muscle-restricted mutation in the mitochondrial tRNA(Leu (CUN)) gene, ANN MED, 33(7), 2001, pp. 493-496
Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): A genotype-phenotype correlation study
Authors: Martin, MA Rubio, JC Buchbinder, J Fernandez-Hojas, R del Hoyo, P Teijeira, S Gamez, J Navarro, C Fernandez, JM Cabello, A Campos, Y Cervera, C Culebras, JM Andreu, AL Fletterick, R Arenas, J
Citation: Ma. Martin et al., Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): A genotype-phenotype correlation study, ANN NEUROL, 50(5), 2001, pp. 574-581
Diseases of oxidative phosphorylation due to mtDNA mutations
Authors: DiMauro, S Andreu, AL Musumeci, O Bonilla, E
Citation: S. Dimauro et al., Diseases of oxidative phosphorylation due to mtDNA mutations, SEM NEUROL, 21(3), 2001, pp. 251-260
Autosomal dominant limb-girdle muscular dystrophy - A large kindred with evidence for anticipation
Authors: Gamez, J Navarro, C Andreu, AL Fernandez, JM Palenzuela, L Tejeira, S Fernandez-Hojas, R Schwartz, S Karadimas, C DiMauro, S Hirano, M Cervera, C
Citation: J. Gamez et al., Autosomal dominant limb-girdle muscular dystrophy - A large kindred with evidence for anticipation, NEUROLOGY, 56(4), 2001, pp. 450-454
Mutations in mtDNA: Are we scraping the bottom of the barrel?
Authors: DiMauro, S Andreu, AL
Citation: S. Dimauro et Al. Andreu, Mutations in mtDNA: Are we scraping the bottom of the barrel?, BRAIN PATH, 10(3), 2000, pp. 431-441
Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations
Authors: Nishino, I Spinazzola, A Papadimitriou, A Hammans, S Steiner, I Hahn, CD Connolly, AM Verloes, A Guimaraes, J Maillard, I Hamano, H Donati, MA Semrad, CE Russell, JA Andreu, AL Hadjigeorgiou, GM Vu, TH Tadesse, S Nygaard, TG Nonaka, I Hirano, I Bonilla, E Rowland, LP DiMauro, S Hirano, M
Citation: I. Nishino et al., Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations, ANN NEUROL, 47(6), 2000, pp. 792-800
A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy
Authors: Andreu, AL Checcarelli, N Iwata, S Shanske, S DiMauro, S
Citation: Al. Andreu et al., A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy, PEDIAT RES, 48(3), 2000, pp. 311-314
Iron(II) induces changes in the conformation of mammalian mitochondrial DNA resulting in a reduction of its transcriptional rate
Authors: Asin, J Perez-Martos, A Fernandez-Silva, P Montoya, J Andreu, AL
Citation: J. Asin et al., Iron(II) induces changes in the conformation of mammalian mitochondrial DNA resulting in a reduction of its transcriptional rate, FEBS LETTER, 480(2-3), 2000, pp. 161-164
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease
Authors: Fernandez, R Navarro, C Andreu, AL Bruno, C Shanske, S Gamez, J Teijeira, S Hernandez, I Teijeiro, A Fernandez, JM Musumeci, O DiMauro, S
Citation: R. Fernandez et al., A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease, ARCH NEUROL, 57(2), 2000, pp. 217-219
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
Polymorphic variants in the human mitochondrial cytochrome b gene
Authors: Andreu, AL Bruno, C Hadjigeorgiou, GM Shanske, S DiMauro, S
Citation: Al. Andreu et al., Polymorphic variants in the human mitochondrial cytochrome b gene, MOL GEN MET, 67(1), 1999, pp. 49-52
New mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patientwith McArdle's disease
Authors: Andreu, AL Bruno, C Tamburino, L Gamez, J Shanske, S Cervera, C Navarro, C DiMauro, S
Citation: Al. Andreu et al., New mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patientwith McArdle's disease, NEUROMUSC D, 9(3), 1999, pp. 171-173
A nonsense mutation in the myophosphorylase gene in a Japanese family withMcArdle's disease
Authors: Bruno, C Tamburino, L Kawashima, N Andreu, AL Shanske, S Hadjigeorgiou, GM Kawashima, A DiMauro, S
Citation: C. Bruno et al., A nonsense mutation in the myophosphorylase gene in a Japanese family withMcArdle's disease, NEUROMUSC D, 9(1), 1999, pp. 34-37
Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene
Authors: Andreu, AL Tanji, K Bruno, C Hadjigeorgiou, GM Sue, CM Jay, C Ohnishi, T Shanske, S Bonilla, E DiMauro, S
Citation: Al. Andreu et al., Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene, ANN NEUROL, 45(6), 1999, pp. 820-823
A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria
Authors: Andreu, AL Bruno, C Dunne, TC Tanji, K Shanske, S Sue, CM Krishna, S Hadjigeorgiou, GM Shtilbans, A Bonilla, E DiMauro, S
Citation: Al. Andreu et al., A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria, ANN NEUROL, 45(1), 1999, pp. 127-130
The long isoform uncoupling protein-3 (UCP3L) in human energy homeostasis
Authors: Chung, WK Luke, A Cooper, RS Rotini, C Vidal-Puig, A Rosenbaum, M Gordon, D Leal, SM Caprio, S Goldsmith, R Andreu, AL Bruno, C DiMauro, S Heo, M Lowe, WL Lowell, BB Allison, DB Leibel, RL
Citation: Wk. Chung et al., The long isoform uncoupling protein-3 (UCP3L) in human energy homeostasis, INT J OBES, 23, 1999, pp. S49-S50
A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact
Authors: Gamez, J Fernandez, R Bruno, C Andreu, AL Cervera, C Navarro, C Schwartz, S DiMauro, S
Citation: J. Gamez et al., A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact, MUSCLE NERV, 22(8), 1999, pp. 1136-1138
Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA
Authors: Andreu, AL Hanna, MG Reichmann, H Bruno, C Penn, AS Tanji, K Pallotti, F Iwata, S Bonilla, E Lach, B Morgan-Hughes, J DiMauro, S
Citation: Al. Andreu et al., Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA, N ENG J MED, 341(14), 1999, pp. 1037-1044
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene
Authors: Sue, CM Tanji, K Hadjigeorgiou, G Andreu, AL Nishino, I Krishna, S Bruno, C Hirano, M Shanske, S Bonilla, E Fischel-Ghodsian, N DiMauro, S Friedman, R
Citation: Cm. Sue et al., Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene, NEUROLOGY, 52(9), 1999, pp. 1905-1908
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
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
Genetic and physiologic analysis of the role of uncoupling protein 3 in human energy homeostasis
Authors: Chung, WK Luke, A Cooper, RS Rotini, C Vidal-Puig, A Rosenbaum, M Chua, M Solanes, G Zheng, M Zhao, L LeDuc, C Eisberg, A Chu, F Murphy, E Schreier, M Aronne, L Caprio, S Kahle, B Gordon, D Leal, SM Goldsmith, R Andreu, AL Bruno, C DiMauro, S Heo, MS Lowe, WL Lowell, BB Allison, DB Leibel, RL
Citation: Wk. Chung et al., Genetic and physiologic analysis of the role of uncoupling protein 3 in human energy homeostasis, DIABETES, 48(9), 1999, pp. 1890-1895
Risultati: 1-25 | 26-27