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S Dimauro

Showing results (131-140 of 421) with videos related to

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Pediatric Neurology|September 1, 1996
Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected deathF M Santorelli, J S Schlessel, A E Slonim, et al.
Gene|September 30, 1988
Subunit Va of human and bovine cytochrome c oxidase is highly conservedR Rizzuto, H Nakase, M Zeviani, et al.
Pediatric Research|September 1, 1993
Valproic acid impairs carnitine uptake in cultured human skin fibroblasts. An in vitro model for the pathogenesis of valproic acid-associated carnitine deficiencyI Tein, S DiMauro, Z W Xie, et al.
Pediatric Research|August 29, 2000
A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathyA L Andreu, N Checcarelli, S Iwata, et al.
Pediatric Research|October 1, 1984
Histiocytoid cardiomyopathy of infancy: deficiency of reducible cytochrome b in heart mitochondriaA Papadimitriou, H B Neustein, S Dimauro, et al.
American Journal of Human Genetics|May 1, 1995
Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitusH Hao, E Bonilla, G Manfredi, et al.
Nature: New Biology|February 17, 1971
Glycolytic difference between foetal and non-foetal human fibroblast linesM A Condon, F A Oski, S DiMauro, et al.
Muscle & Nerve|September 1, 1984
Phosphoglycerate kinase deficiency myopathy: biochemical and immunological studies of the mutant enzymeN Bresolin, A Miranda, H W Chang, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Heterozygotes for plasmalemmal carnitine transporter defect are at increased risk for valproic acid-associated impairment of carnitine uptake in cultured human skin fibroblastsI Tein, S DiMauro, Z W Xie, et al.
Metabolism: Clinical and Experimental|August 1, 1977
Carbohydrate metabolism in hypothyroid myopathyH G McDaniel, C S Pittman, S J Oh, et al.
Pageof 43

Showing results (131-140 of 421) with videos related to

Sort By:
Pageof 43
Pediatric Neurology|September 1, 1996
Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected deathF M Santorelli, J S Schlessel, A E Slonim, et al.
Gene|September 30, 1988
Subunit Va of human and bovine cytochrome c oxidase is highly conservedR Rizzuto, H Nakase, M Zeviani, et al.
Pediatric Research|September 1, 1993
Valproic acid impairs carnitine uptake in cultured human skin fibroblasts. An in vitro model for the pathogenesis of valproic acid-associated carnitine deficiencyI Tein, S DiMauro, Z W Xie, et al.
Pediatric Research|August 29, 2000
A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathyA L Andreu, N Checcarelli, S Iwata, et al.
Pediatric Research|October 1, 1984
Histiocytoid cardiomyopathy of infancy: deficiency of reducible cytochrome b in heart mitochondriaA Papadimitriou, H B Neustein, S Dimauro, et al.
American Journal of Human Genetics|May 1, 1995
Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitusH Hao, E Bonilla, G Manfredi, et al.
Nature: New Biology|February 17, 1971
Glycolytic difference between foetal and non-foetal human fibroblast linesM A Condon, F A Oski, S DiMauro, et al.
Muscle & Nerve|September 1, 1984
Phosphoglycerate kinase deficiency myopathy: biochemical and immunological studies of the mutant enzymeN Bresolin, A Miranda, H W Chang, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Heterozygotes for plasmalemmal carnitine transporter defect are at increased risk for valproic acid-associated impairment of carnitine uptake in cultured human skin fibroblastsI Tein, S DiMauro, Z W Xie, et al.
Metabolism: Clinical and Experimental|August 1, 1977
Carbohydrate metabolism in hypothyroid myopathyH G McDaniel, C S Pittman, S J Oh, et al.
Pageof 43