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Journal of Human Genetics|March 10, 2017
UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemiaPauline Gaignard, Didier Eyer, Elise Lebigot, et al.
Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism|December 15, 2015
Progesterone reduces brain mitochondrial dysfunction after transient focal ischemia in male and female micePauline Gaignard, Magalie Fréchou, Michael Schumacher, et al.
Metabolic Brain Disease|September 5, 2017
Mutation in the AGK gene in two siblings with unusual Sengers syndromeSanae Allali, Imen Dorboz, Simon Samaan, et al.
Molecular Genetics and Metabolism|February 6, 2007
A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndromeSophie Lebon, Diana Rodriguez, Delphine Bridoux, et al.
Endocrinology|June 4, 2015
Effect of Sex Differences on Brain Mitochondrial Function and Its Suppression by Ovariectomy and in Aged MicePauline Gaignard, Stéphane Savouroux, Philippe Liere, et al.
American Journal of Medical Genetics. Part A|February 8, 2025
Mitochondrial DNA or Genomic DNA Variant(s): Utility of Exhaustive Sequencing in Leigh SyndromePauline Gaignard, Pierre-Hadrien Becker, Anne-Frederique Dessein, et al.
JIMD Reports|April 30, 2013
Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New CasesPauline Gaignard, Emmanuel Gonzales, Oanez Ackermann, et al.
Neuropharmacology|June 10, 2018
Intranasal administration of progesterone: A potential efficient route of delivery for cerebroprotection after acute brain injuriesRachida Guennoun, Magalie Fréchou, Pauline Gaignard, et al.
Gastroenterology|April 7, 2009
Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstructionAurélien Amiot, Maya Tchikviladzé, Francisca Joly, et al.
Annals of Neurology|August 28, 2007
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletionEmmanuelle Sarzi, Steffi Goffart, Valérie Serre, et al.
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