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Molecular Genetics and Metabolism|January 27, 2009
Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defectsHélène Pagniez-Mammeri, Anne Lombes, Michèle Brivet, et al.
Annals of Neurology|January 31, 2003
A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 geneRunu Dey, Manuele Mine, Isabelle Desguerre, et al.
Human Molecular Genetics|May 8, 2007
Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalancesNeil Ashley, Susan Adams, Abdelhamid Slama, et al.
European Journal of Human Genetics : EJHG|January 22, 2004
The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriersSandrine Haut, Thierry Billette de Villemeur, Michèle Brivet, et al.
Free Radical Biology & Medicine|April 30, 2016
Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3Lise Mathieu, Alexandra Lopes Costa, Carole Le Bachelier, et al.
The Journal of Clinical Endocrinology and Metabolism|March 24, 2005
Respiratory chain defects may present only with hypoglycemiaFanny Mochel, Abdelhamid Slama, Guy Touati, et al.
Rejuvenation Research|May 10, 2011
Increased susceptibility to liver fibrosis with age is correlated with an altered inflammatory responseMeriem Mahrouf-Yorgov, Alexandra Collin de l'Hortet, Claudine Cosson, et al.
The Journal of Pediatrics|April 25, 2007
Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhoodEmmanuelle Sarzi, Alice Bourdon, Dominique Chrétien, et al.
Human Genetics|April 24, 2003
A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosisSandrine Haut, Michèle Brivet, Guy Touati, et al.
Molecular Genetics and Metabolism|September 16, 2020
Mitochondrial dysfunction caused by novel ATAD3A mutationsNathalie Dorison, Pauline Gaignard, Aurélien Bayot, et al.
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