Publications by authors named "Denise M Kirby"

19Publications

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.

Eur J Hum Genet 2011 Jul 2;19(7):769-75. Epub 2011 Mar 2.

Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1038/ejhg.2011.18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3137493PMC
July 2011

Novel single base pair COX III subunit deletion of mitochondrial DNA associated with rhabdomyolysis.

J Clin Neurosci 2011 Feb 15;18(2):290-2. Epub 2010 Dec 15.

St Vincent's Melbourne Neuromuscular Diagnostic Laboratory, Department of Clinical Neurosciences and Neurological Research, 5th Floor Daly Wing, St Vincent's Hospital, 35 Victoria Parade, Fitzroy, Victoria 3065, Australia.

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http://dx.doi.org/10.1016/j.jocn.2010.06.001DOI Listing
February 2011

Mitochondrial DNA mutations affect calcium handling in differentiated neurons.

Brain 2010 Mar 5;133(Pt 3):787-96. Epub 2010 Mar 5.

Mitochondrial Research Group, Institute for Ageing and Health Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, England.

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http://dx.doi.org/10.1093/brain/awq023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2842518PMC
March 2010

Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations.

Brain 2010 Mar 15;133(Pt 3):797-807. Epub 2010 Feb 15.

Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1093/brain/awq015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2842515PMC
March 2010

Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses.

Pediatrics 2008 Nov;122(5):1003-8

Metabolic Service, Genetic Health Services Victoria, Victoria and Royal Children's Hospital, Melbourne, Australia.

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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2007-3502DOI Listing
November 2008

Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders.

Twin Res Hum Genet 2008 Aug;11(4):395-411

1 Murdoch Childrens Research Institute and Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1375/twin.11.4.395DOI Listing
August 2008

Biochemical assays of respiratory chain complex activity.

Methods Cell Biol 2007 ;80:93-119

Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, NE2 4HH, United Kingdom.

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http://dx.doi.org/10.1016/S0091-679X(06)80004-XDOI Listing
June 2007

Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions.

Mov Disord 2007 May;22(7):1020-3

Department of Neurology, Flinders Medical Centre, SA, Australia.

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http://dx.doi.org/10.1002/mds.21416DOI Listing
May 2007

Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseases.

Dev Med Child Neurol 2006 Feb;48(2):132-6

Metabolic Service, Genetic Health Services, Victoria Royal Children's Hospital, Australia.

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http://dx.doi.org/10.1017/S0012162206000284DOI Listing
February 2006

Flow cytometry in the study of mitochondrial respiratory chain disorders.

Mitochondrion 2002 May;1(5):437-45

Department of Biological Sciences, Macquarie University, North Ryde, Sydney, NSW, Australia.

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http://dx.doi.org/10.1016/s1567-7249(02)00008-9DOI Listing
May 2002

Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates.

J Pediatr 2005 Jul;147(1):115-8

National Metabolic Service, Starship Children's Hospital, the Neonatal Service, Kidz First Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1016/j.jpeds.2005.03.006DOI Listing
July 2005

Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.

Biochim Biophys Acta 2004 Dec;1659(2-3):121-8

Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria 3052 Australia.

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http://dx.doi.org/10.1016/j.bbabio.2004.08.006DOI Listing
December 2004

Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice.

Mamm Genome 2004 May;15(5):370-82

Cell and Gene Therapy Research Group, Murdoch Childrens Research Institute, University of Melbourne Department of Pediatrics, Royal Children's Hospital, Flemington Road, 3052, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1007/s00335-004-3019-3DOI Listing
May 2004

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.

Ann Neurol 2004 Jan;55(1):58-64

Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, University of Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1002/ana.10787DOI Listing
January 2004

Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.

Ann Neurol 2003 Oct;54(4):473-8

Murdoch Children's Research Institute, University of Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1002/ana.10687DOI Listing
October 2003