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Results: 1-25 | 26-50 | 51-72 |
Results: 51-72/72
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
Myophosphorylase gene transfer in McArdle's disease myoblasts in vitro
Authors: Pari, G Crerar, MM Nalbantoglu, J Shoubridge, E Jani, A Tsujino, S Shanske, S DiMauro, S Howell, JM Karpati, G
Citation: G. Pari et al., Myophosphorylase gene transfer in McArdle's disease myoblasts in vitro, NEUROLOGY, 53(6), 1999, pp. 1352-1354
Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q
Authors: Hedera, P DiMauro, S Bonilla, E Wald, J Eldevik, OP Fink, JK
Citation: P. Hedera et al., Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q, NEUROLOGY, 53(1), 1999, pp. 44-50
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
A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA(Lys) gene associated with myoclonus epilepsy with ragged-red fibers
Authors: Arenas, J Campos, Y Bornstein, B Ribacoba, R Martin, MA Rubio, JC Santorelli, FM Zeviani, M DiMauro, S Garesse, R
Citation: J. Arenas et al., A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA(Lys) gene associated with myoclonus epilepsy with ragged-red fibers, NEUROLOGY, 52(2), 1999, pp. 377-382
Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome
Authors: Tanji, K DiMauro, S Bonilla, E
Citation: K. Tanji et al., Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome, J NEUR SCI, 166(1), 1999, pp. 64-70
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
The mitochondrial DNA A3243G mutation in Portugal: clinical and molecular studies in 5 families
Authors: Vilarinho, L Santorelli, FM Coelho, I Rodrigues, L Maia, M Barata, I Cabral, P Dionisio, A Costa, A Guimaraes, A DiMauro, S
Citation: L. Vilarinho et al., The mitochondrial DNA A3243G mutation in Portugal: clinical and molecular studies in 5 families, J NEUR SCI, 163(2), 1999, pp. 168-174
The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy
Authors: Bruno, C Kirby, DM Koga, Y Garavaglia, B Duran, G Santorelli, FM Shield, LK Xia, WL Shanske, S Goldstein, JD Iwanaga, R Akita, Y Carrara, F Davis, A Zeviani, M Thorburn, DR DiMauro, S
Citation: C. Bruno et al., The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy, J PEDIAT, 135(2), 1999, pp. 197-202
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
Microanalysis of cardiolipin in small biopsies including skeletal muscle from patients with mitochondrial disease
Authors: Schlame, M Shanske, S Doty, S Konig, T Sculco, T DiMauro, S Blanck, TJJ
Citation: M. Schlame et al., Microanalysis of cardiolipin in small biopsies including skeletal muscle from patients with mitochondrial disease, J LIPID RES, 40(9), 1999, pp. 1585-1592
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
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
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV
Authors: Bruno, C Martinuzzi, A Tang, YY Andreu, AL Pallotti, F Bonilla, E Shanske, S Fu, J Sue, CM Angelini, C DiMauro, S Manfredi, G
Citation: C. Bruno et al., A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV, AM J HU GEN, 65(3), 1999, pp. 611-620
Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993
Authors: White, SL Collins, VR Wolfe, R Cleary, MA Shanske, S DiMauro, S Dahl, HHM Thorburn, DR
Citation: Sl. White et al., Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993, AM J HU GEN, 65(2), 1999, pp. 474-482
Maternally inherited cardiomyopathy: An atypical presentation of the mtDNA12S rRNA gene A1555G mutation
Authors: Santorelli, FM Tanji, K Manta, P Casali, C Krishna, S Hays, AP Mancini, DM DiMauro, S Hirano, M
Citation: Fm. Santorelli et al., Maternally inherited cardiomyopathy: An atypical presentation of the mtDNA12S rRNA gene A1555G mutation, AM J HU GEN, 64(1), 1999, pp. 295-300
The mitochondrial DNA A8344G mutation in leigh syndrome revealed by analysis in paraffin-embedded sections: Revisiting the past
Authors: Santorelli, FM Tanji, K Shanske, S Krishna, S Schmidt, RE Greenwood, RS DiMauro, S De Vivo, DC
Citation: Fm. Santorelli et al., The mitochondrial DNA A8344G mutation in leigh syndrome revealed by analysis in paraffin-embedded sections: Revisiting the past, ANN NEUROL, 44(6), 1998, pp. 962-964
Mitochondrial medicine
Authors: Reichmann, H DiMauro, S
Citation: H. Reichmann et S. Dimauro, Mitochondrial medicine, AKT NEUROL, 25(8), 1998, pp. 351-360
Comparative biochemical studies of ATPases in cells from patients with theT8993G or T8993C mitochondrial DNA mutations
Authors: Vazquez-Memije, ME Shanske, S Santorelli, FM Kranz-Eble, P DeVivo, DC DiMauro, S
Citation: Me. Vazquez-memije et al., Comparative biochemical studies of ATPases in cells from patients with theT8993G or T8993C mitochondrial DNA mutations, J INH MET D, 21(8), 1998, pp. 829-836
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
Risultati: 1-25 | 26-50 | 51-72 |