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The Journal of Pediatrics|January 1, 1994
Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophyV Cormier-Daire, J P Bonnefont, P Rustin, et al.American Journal of Medical Genetics|December 30, 1996
Craniofacial anomalies and malformations in respiratory chain deficiencyV Cormier-Daire, P Rustin, A Rötig, et al.Lancet (London, England)|September 6, 2000
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiencyA Rötig, E L Appelkvist, V Geromel, et al.American Journal of Human Genetics|May 12, 2001
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiencyP Bénit, D Chretien, N Kadhom, et al.American Journal of Human Genetics|July 31, 1998
A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiencyJ C von Kleist-Retzow, V Cormier-Daire, P de Lonlay, et al.British Journal of Haematology|June 1, 1994
Refractory anaemia and mitochondrial cytopathy in childhoodB Bader-Meunier, A Rötig, F Mielot, et al.Oncogene|April 5, 2011
BH3 mimetics activate multiple pro-autophagic pathwaysS A Malik, I Orhon, E Morselli, et al.Neuropediatrics|May 1, 1999
Respiratory chain deficiency presenting as recurrent myoglobinuria in childhoodP de Lonlay-Debeney, P Edery, V Cormier-Daire, et al.Human Molecular Genetics|April 18, 2000
A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiencyI Valnot, J C von Kleist-Retzow, A Barrientos, et al.Science Advances|April 6, 2019
Modulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouseR Filograna, C Koolmeister, M Upadhyay, et al.Pageof 18