Publications by authors named "Helen A L Tuppen"

15 Publications

  • Page 1 of 1

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

Sci Rep 2015 May 19;5:9906. Epub 2015 May 19.

Wellcome Trust Centre for Mitochondrial Research and Newcastle University Centre for Ageing and Vitality, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

View Article and Find Full Text PDF
May 2015

Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.

Eur J Hum Genet 2015 Dec 15;23(12):1735-8. Epub 2015 Apr 15.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, UK.

View Article and Find Full Text PDF
December 2015

A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmy.

Neuromuscul Disord 2015 Mar 13;25(3):262-7. Epub 2014 Nov 13.

Nijmegen Centre for Mitochondrial Disorders (NCMD), Amalia Children's Hospital, Nijmegen, The Netherlands. Electronic address:

View Article and Find Full Text PDF
March 2015

Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle.

PLoS One 2014 4;9(12):e114462. Epub 2014 Dec 4.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, United Kingdom.

View Article and Find Full Text PDF
December 2015

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

PLoS Genet 2014 Sep 18;10(9):e1004620. Epub 2014 Sep 18.

Newcastle University Centre for Brain Ageing and Vitality, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom; Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom.

View Article and Find Full Text PDF
September 2014

Therapeutic potential of somatic cell nuclear transfer for degenerative disease caused by mitochondrial DNA mutations.

Sci Rep 2014 Jan 24;4:3844. Epub 2014 Jan 24.

1] Wellcome Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK [2] Newcastle Fertility Centre, Centre for Life, Times Square, Newcastle upon Tyne, UK.

View Article and Find Full Text PDF
January 2014

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

Mol Genet Metab 2010 Aug 24;100(4):345-8. Epub 2010 Apr 24.

Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK.

View Article and Find Full Text PDF
August 2010

Mitochondrial DNA mutations and human disease.

Biochim Biophys Acta 2010 Feb 15;1797(2):113-28. Epub 2009 Sep 15.

Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne NE24HH, UK.

View Article and Find Full Text PDF
February 2010