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P Rustin

Showing results (101-110 of 157) with videos related to

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The Journal of Pediatrics|April 1, 1995
Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritisA Rötig, F Goutières, P Niaudet, et al.
Biochimica Et Biophysica Acta|October 19, 1999
Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiencyJ C von Kleist-Retzow, E Vial, K Chantrel-Groussard, et al.
Human Genetics|August 24, 1999
A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiencyI Valnot, J Kassis, D Chretien, et al.
Journal of Medical Genetics|January 20, 2004
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndromeP Bénit, A Slama, F Cartault, et al.
American Journal of Human Genetics|February 1, 1992
Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxiaA Rötig, J L Bessis, N Romero, et al.
Biochemical Society Transactions|February 27, 1999
Maple syrup urine disease metabolites induce apoptosis in neural cells without cytochrome c release or changes in mitochondrial membrane potentialP Jouvet, P Rustin, U Felderhoff, et al.
Pediatrics|February 2, 1999
Hair and skin disorders as signs of mitochondrial diseaseC Bodemer, A Rötig, P Rustin, et al.
La Revue De Medecine Interne|July 28, 1999
[A very, very short of breath HIV-infected patient]B Mégarbane, C Fromont, I Nion, et al.
American Journal of Human Genetics|October 18, 2001
The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathwayA P Gimenez-Roqueplo, J Favier, P Rustin, et al.
Neuromuscular Disorders : NMD|July 1, 1995
Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuriaP Saunier, D Chretien, C Wood, et al.
Pageof 16

Showing results (101-110 of 157) with videos related to

Sort By:
Pageof 16
The Journal of Pediatrics|April 1, 1995
Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritisA Rötig, F Goutières, P Niaudet, et al.
Biochimica Et Biophysica Acta|October 19, 1999
Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiencyJ C von Kleist-Retzow, E Vial, K Chantrel-Groussard, et al.
Human Genetics|August 24, 1999
A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiencyI Valnot, J Kassis, D Chretien, et al.
Journal of Medical Genetics|January 20, 2004
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndromeP Bénit, A Slama, F Cartault, et al.
American Journal of Human Genetics|February 1, 1992
Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxiaA Rötig, J L Bessis, N Romero, et al.
Biochemical Society Transactions|February 27, 1999
Maple syrup urine disease metabolites induce apoptosis in neural cells without cytochrome c release or changes in mitochondrial membrane potentialP Jouvet, P Rustin, U Felderhoff, et al.
Pediatrics|February 2, 1999
Hair and skin disorders as signs of mitochondrial diseaseC Bodemer, A Rötig, P Rustin, et al.
La Revue De Medecine Interne|July 28, 1999
[A very, very short of breath HIV-infected patient]B Mégarbane, C Fromont, I Nion, et al.
American Journal of Human Genetics|October 18, 2001
The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathwayA P Gimenez-Roqueplo, J Favier, P Rustin, et al.
Neuromuscular Disorders : NMD|July 1, 1995
Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuriaP Saunier, D Chretien, C Wood, et al.
Pageof 16