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Results: 1-25/72
Authors:
Smeitink, J
van den Heuvel, L
DiMauro, S
Citation: J. Smeitink et al., The genetics and pathology of oxidative phosphorylation, NAT REV GEN, 2(5), 2001, pp. 342-352
Authors:
Shanske, AL
Shanske, S
DiMauro, S
Citation: Al. Shanske et al., The other human genome, ARCH PED AD, 155(11), 2001, pp. 1210-1216
Authors:
Karadimas, C
Tanji, K
Geremek, M
Chronopoulou, P
Vu, T
Krishna, S
Sue, CM
Shanske, S
Bonilla, E
DiMauro, S
Lipson, M
Bachman, R
Citation: C. Karadimas et al., A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy, J CHILD NEU, 16(7), 2001, pp. 531-533
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
Authors:
Taivassalo, T
Shoubridge, EA
Chen, J
Kennaway, NG
DiMauro, S
Arnold, DL
Haller, RG
Citation: T. Taivassalo et al., Aerobic conditioning in patients with mitochondrial myopathies: Physiological, biochemical, and genetic effects, ANN NEUROL, 50(2), 2001, pp. 133-141
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
Authors:
Vu, TH
Tanji, K
Holve, SA
Bonilla, E
Sokol, RJ
Snyder, RD
Fiore, S
Deutsch, GH
DiMauro, S
De Vivo, D
Citation: Th. Vu et al., Navajo neurohepatopathy: A mitochondrial DNA depletion syndrome?, HEPATOLOGY, 34(1), 2001, pp. 116-120
Authors:
Hirano, M
Davidson, M
DiMauro, S
Citation: M. Hirano et al., Mitochondria and the heart, CURR OPIN C, 16(3), 2001, pp. 201-210
Authors:
DiMauro, S
Lamperti, C
Citation: S. Dimauro et C. Lamperti, Muscle glycogenoses, MUSCLE NERV, 24(8), 2001, pp. 984-999
Authors:
Vu, TH
Hays, AP
Tanji, K
Younger, D
Gundersen, GG
Eastwood, A
Braun, CW
DiMauro, S
Bonilla, E
Citation: Th. Vu et al., Myopathy with tubulin-reactive crystalline inclusions, NEUROLOGY, 57(1), 2001, pp. 149-152
Authors:
Musumeci, O
Naini, A
Slonim, AE
Skavin, N
Hadjigeorgiou, GL
Krawiecki, N
Weissman, BM
Tsao, CY
Mendell, JR
Shanske, S
De Vivo, DC
Hirano, M
DiMauro, S
Citation: O. Musumeci et al., Familial cerebellar ataxia with muscle coenzyme Q10 deficiency, NEUROLOGY, 56(7), 2001, pp. 849-855
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
Authors:
Raben, N
Danon, M
Lu, N
Lee, E
Shliselfeld, L
Skurat, AV
Roach, PJ
Lawrence, JC
Musumeci, O
Shanske, S
DiMauro, S
Plotz, P
Citation: N. Raben et al., Surprises of genetic engineering - A possible model of polyglucosan body disease, NEUROLOGY, 56(12), 2001, pp. 1739-1745
Authors:
DiMauro, S
Hirano, M
Schon, EA
Citation: S. Dimauro et al., Mitochondrial encephalomyopathies: therapeutic approaches, NEUROL SCI, 21(5), 2000, pp. S901-S908
Authors:
DiMauro, S
Citation: S. Dimauro, Introduction: Mitochrondrial encephalomyopathies, BRAIN PATH, 10(3), 2000, pp. 419-421
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
Authors:
Bruno, C
Bado, M
Minetti, C
Cordone, G
DiMauro, S
Citation: C. Bruno et al., Novel mutation in the CPT II gene in a child with periodic febrile myalgiaand myoglobinuria, J CHILD NEU, 15(6), 2000, pp. 390-393
Authors:
Bruno, C
Bertini, E
Santorelli, FM
DiMauro, S
Citation: C. Bruno et al., HyperCKemia as the only sign of McArdle's disease in a child, J CHILD NEU, 15(2), 2000, pp. 137-138
Authors:
Shtilbans, A
Shanske, S
Goodman, S
Sue, CM
Bruno, C
Johnson, TL
Lava, NS
Waheed, N
DiMauro, S
Citation: A. Shtilbans et al., G8363A mutation in the mitochondrial DNA transfer ribonucleic acid(Lys) gene: Another cause of Leigh syndrome, J CHILD NEU, 15(11), 2000, pp. 759-761
Authors:
Tsujino, S
Nonaka, I
DiMauro, S
Citation: S. Tsujino et al., Glycogen storage myopathies, NEUROL CLIN, 18(1), 2000, pp. 125
Authors:
Thyagarajan, D
Bressman, S
Bruno, C
Przedborski, S
Shanske, S
Lynch, T
Fahn, S
DiMauro, S
Citation: D. Thyagarajan et al., A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy, ANN NEUROL, 48(5), 2000, pp. 730-736
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
Authors:
Sue, CM
Karadimas, C
Checcarelli, N
Tanji, K
Papadopoulou, LC
Pallotti, F
Guo, FL
Shanske, S
Hirano, M
De Vivo, DC
Van Coster, R
Kaplan, P
Bonilla, E
DiMauro, S
Citation: Cm. Sue et al., Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2, ANN NEUROL, 47(5), 2000, pp. 589-595
Authors:
Vu, TH
Tanji, K
Pallotti, F
Golzi, V
Hirano, M
DiMauro, S
Bonilla, E
Citation: Th. Vu et al., Analysis of mtDNA deletions in muscle by in situ hybridization, MUSCLE NERV, 23(1), 2000, pp. 80-85
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