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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.Pediatrics|February 2, 1999
Hair and skin disorders as signs of mitochondrial diseaseC Bodemer, A Rötig, P Rustin, 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.Irish Medical Journal|December 6, 2006
Mitochondrial cytopathies, phenotypic heterogeneity and a high incidenceE Ryan, M D King, P Rustin, et al.Nature Genetics|February 15, 2001
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron depositsH Puccio, D Simon, M Cossée, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Clinical aspects of mitochondrial disordersA Munnich, P Rustin, A Rötig, et al.Pageof 18