Joanna Poulton

Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study.

Segregation of mitochondrial DNA (mtDNA) in human oocytes and in animal models of mtDNA disease: clinical implications.

Detection of mitochondrial DNA depletion in living human cells using PicoGreen staining.

Detailed analysis of variation at and around mitochondrial position 16189 in a large Finnish cohort reveals no significant associations with early growth or metabolic phenotypes at age 31 years.

Liver mtDNA content increases during development: a comparison of methods and the importance of age- and tissue-specific controls for the diagnosis of mtDNA depletion.

Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.

Mitochondrial DNA is a direct target of anti-cancer anthracycline drugs.

Preventing transmission of maternally inherited mitochondrial DNA diseases.

The mitochondrial DNA T16189C polymorphism and HIV-associated cardiomyopathy: a genotype-phenotype association study.

163rd ENMC International Workshop: nucleoid and nucleotide biology in syndromes of mitochondrial DNA depletion myopathy 12-14 December 2008, Naarden, The Netherlands.

Anticancer DNA intercalators cause p53-dependent mitochondrial DNA nucleoid re-modelling.

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

174th ENMC international workshop: Applying pre-implantation genetic diagnosis to mtDNA diseases: implications of scientific advances 19-21 March 2010, Naarden, The Netherlands.

Transmission of mitochondrial DNA diseases and ways to prevent them.

Therapeutic treatments of mtDNA diseases at the earliest stages of human development.

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.

The association of the mitochondrial DNA OriB variant (16184-16193 polycytosine tract) with type 2 diabetes in Europid populations.

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.

Unexplained gastrointestinal symptoms: Think mitochondrial disease.

A national perspective on prenatal testing for mitochondrial disease.

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) in the older adult.

MtDNA segregation in heteroplasmic tissues is common in vivo and modulated by haplotype differences and developmental stage.

Mitochondrial DNA disease and developmental implications for reproductive strategies.

Sodium valproate induces mitochondrial respiration dysfunction in HepG2 in vitro cell model.

Is Placental Mitochondrial Function a Regulator that Matches Fetal and Placental Growth to Maternal Nutrient Intake in the Mouse?

Metabolic rescue in pluripotent cells from patients with mtDNA disease.

A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools against pathogenic heteroplasmic mtDNA.

Resistance of Dynamin-related Protein 1 Oligomers to Disassembly Impairs Mitophagy, Resulting in Myocardial Inflammation and Heart Failure.

Mitochondrial content is central to nuclear gene expression: Profound implications for human health.

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.

Mitophagy plays a central role in mitochondrial ageing.

Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure.

Modulating mitochondrial quality in disease transmission: towards enabling mitochondrial DNA disease carriers to have healthy children.

Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.

Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.

Childhood-onset Leber hereditary optic neuropathy.

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease.

Genetic Counselling for Maternally Inherited Mitochondrial Disorders.

Modulating mitophagy in mitochondrial disease.

Erratum to: Genetic Counselling for Maternally Inherited Mitochondrial Disorders.

Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice.