Author details

Full Name

Denise M Kirby

Affiliation

ORCID

Career Start Year

1986

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
21364701	Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.	Eur J Hum Genet	2011
21163656	Novel single base pair COX III subunit deletion of mitochondrial DNA associated with rhabdomyolysis.	Journal of Clinical Neuroscience	2011
20157008	Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations.	Brain	2010
20818383	High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.	Nat Genet	2010
20207702	Mitochondrial DNA mutations affect calcium handling in differentiated neurons.	Brain	2010
19552636	Transmitochondrial embryonic stem cells containing pathogenic mtDNA mutations are compromised in neuronal differentiation.	Cell Prolif	2009
18977979	Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses.	Pediatrics	2008
18940309	Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.	Am J Hum Genet	2008
18637740	Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders.	Twin Research and Human Genetics	2008
17445690	Biochemical assays of respiratory chain complex activity.	Methods Cell Biol	2007
17557076	Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease.	EMBO Journal	2007
17357142	Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions.	Movement Disorders	2007
16417669	Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseases.	Developmental Medicine and Child Neurology	2006
16344351	Clinical and molecular features of encephalomyopathy due to the A3302G mutation in the mitochondrial tRNA(Leu(UUR)) gene.		2005
15929042	POLG mutations and Alpers syndrome.	Ann Neurol	2005
16027709	Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates.	J Pediatr	2005
16138250	The importance of liver biopsy in the investigation of possible mitochondrial respiratory chain disease.	Neuropediatrics	2005
14705112	De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.	Ann Neurol	2004
15372108	NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.	J Clin Invest	2004
16120398	Respiratory chain enzyme analysis in muscle and liver.	Mitochondrion	2004
15576043	Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.		2004
15466014	Mutations of the mitochondrial ND1 gene as a cause of MELAS.	J Med Genet	2004
15170226	Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice.	Mamm Genome	2004
14520659	Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.	Annals of Neurology	2003
16120296	Flow cytometry in the study of mitochondrial respiratory chain disorders.	Mitochondrion	2002
10894222	Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families.	Annals of Neurology	2000
10214753	Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder.	Neurology	1999
10064675	Respiratory chain complex III [correction of complex] in deficiency with pruritus: a novel vitamin responsive clinical feature.	J Pediatr	1999
10431114	The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy.	Journal of Pediatrics	1999
10089279	A False-Positive Diagnosis for the Common MELAS (A3243G) Mutation Caused by a Novel Variant (A3426G) in the ND1 Gene of Mitochondria DNA.	Molecular Diagnosis	1998
9063420	Mitochondrial electron transport chain defect presenting as hypoglycemia.	J Pediatr	1997
9237618	HIV-1 protein Vpr causes gross mitochondrial dysfunction in the yeast Saccharomyces cerevisiae.	FEBS Letters	1997
9003864	Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin.	J Pediatr	1997
8602753	Leigh syndrome: clinical features and biochemical and DNA abnormalities.	Ann Neurol	1996
1350979	Maternal tyrosinaemia II: management and successful outcome.	European Journal of Pediatrics	1992
1909401	Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency.	Journal of Inherited Metabolic Disease	1991
1755650	Pregnancy in phenylketonuria: dietary treatment aimed at normalising maternal plasma phenylalanine concentration.	Archives of Disease in Childhood	1991
2040923	Continuous venovenous hemofiltration in the management of acute decompensation in inborn errors of metabolism.	Journal of Pediatrics	1991
2517465	The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency.	Annals of the New York Academy of Sciences	1989
3123240	Cerebral lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis.	European Journal of Pediatrics	1988
3769993	Difficulties in assessing the effect of strychnine on the outcome of non-ketotic hyperglycinaemia. Observations on sisters with a mild T-protein defect.	European Journal of Pediatrics	1986