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List of works by Helen Tuppen

Clonal expansion of early to mid-life mitochondrial DNA point mutations drives mitochondrial dysfunction during human ageing.

scientific article

Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis.

scientific article published on 30 April 2016

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation

scientific article published on 24 April 2010

Mitochondrial DNA disease: new options for prevention ⬇️

scientific article published on August 18, 2011

Mitochondrial DNA mutations and human disease

scientific article published on 15 September 2009

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

scientific article published on 31 August 2009

Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.

scientific article

Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

scientific article published on 19 July 2012

Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.

scientific article

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

scientific article published on 17 December 2010

Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation

scientific article published on 8 April 2008

Pathological mechanisms underlying single large-scale mitochondrial DNA deletions

scientific article

Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease

scientific article

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families ⬇️

scientific article published on September 6, 2010

Triplex real-time PCR--an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells

scientific article

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