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Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|July 22, 2008
Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disordersDenise M Kirby, David R Thorburn
Developmental Medicine and Child Neurology|January 19, 2006
Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseasesJoannie Hui, Denise M Kirby, David R Thorburn, et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|December 18, 2010
Novel single base pair COX III subunit deletion of mitochondrial DNA associated with rhabdomyolysisRosetta Marotta, Judy Chin, Denise M Kirby, et al.
Pediatrics|November 4, 2008
Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnosesKate Gibson, Jane L Halliday, Denise M Kirby, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 16, 2007
Levodopa response in Parkinsonism with multiple mitochondrial DNA deletionsRobert A Wilcox, Andrew Churchyard, Henrik H Dahl, et al.
Mitochondrion|August 27, 2005
Flow cytometry in the study of mitochondrial respiratory chain disordersKaren Setterfield, Andrew J Williams, Jennifer Donald, et al.
Biochimica Et Biophysica Acta|December 4, 2004
Biochemical and molecular diagnosis of mitochondrial respiratory chain disordersDavid R Thorburn, Canny Sugiana, Renato Salemi, et al.
Annals of Neurology|October 2, 2003
Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's diseaseDenise M Kirby, Avihu Boneh, C W Chow, et al.
Archives of Neurology|December 14, 2005
Clinical and molecular features of encephalomyopathy due to the A3302G mutation in the mitochondrial tRNA(Leu(UUR)) geneWendy M Hutchison, Dominic Thyagarajan, Joanna Poulton, et al.
The Journal of Pediatrics|July 20, 2005
Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonatesCallum J Wilson, Michael Myer, Brian A Darlow, et al.
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