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Brain : a Journal of Neurology|February 17, 2010
Mechanism of neurodegeneration of neurons with mitochondrial DNA mutationsAndrey Y Abramov, Tora K Smulders-Srinivasan, Denise M Kirby, et al.Brain : a Journal of Neurology|March 9, 2010
Mitochondrial DNA mutations affect calcium handling in differentiated neuronsAndrew J Trevelyan, Denise M Kirby, Tora K Smulders-Srinivasan, et al.The Journal of Clinical Investigation|September 17, 2004
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiencyDenise M Kirby, Renato Salemi, Canny Sugiana, et al.Mammalian Genome : Official Journal of the International Mammalian Genome Society|June 1, 2004
Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic miceJoseph P Sarsero, Lingli Li, Timothy P Holloway, et al.Annals of Neurology|January 6, 2004
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiencyRobert McFarland, Denise M Kirby, Kerry J Fowler, et al.European Journal of Human Genetics : EJHG|March 3, 2011
Respiratory chain complex I deficiency caused by mitochondrial DNA mutationsHelen Swalwell, Denise M Kirby, Emma L Blakely, et al.American Journal of Human Genetics|October 23, 2008
Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial diseaseCanny Sugiana, David J Pagliarini, Matthew McKenzie, et al.Nature Genetics|September 7, 2010
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiencySarah E Calvo, Elena J Tucker, Alison G Compton, et al.Pageof 2