Emma L Blakely

Emma L Blakely

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Emma L Blakely

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A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.

Neuromuscul Disord 2019 Sep 21;29(9):693-697. Epub 2019 Aug 21.

Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.

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http://dx.doi.org/10.1016/j.nmd.2019.08.005DOI Listing
September 2019

A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes.

Mitochondrion 2019 Jul 22;47:18-23. Epub 2019 Apr 22.

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4HH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2019.04.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6617384PMC
July 2019

Recent advances in understanding the molecular genetic basis of mitochondrial disease.

J Inherit Metab Dis 2019 Apr 25. Epub 2019 Apr 25.

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1002/jimd.12104DOI Listing
April 2019

Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia.

Neurol Genet 2017 Dec 15;3(6):e202. Epub 2017 Dec 15.

Wellcome Centre for Mitochondrial Research (E.W.S., R.L.J., S.A.H., E.L.B., A.M.S., D.M.T., G.S.G., R.W.T.), Institute of Neuroscience, The Medical School, Newcastle University, United Kingdom; Department of Molecular and Human Genetics (E.W.S.), Baylor College of Medicine, Houston, TX; NHS Highly Specialised Mitochondrial Diagnostic Laboratory (R.L.J., S.A.H., E.L.B., R.W.T.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Wellcome Centre for Mitochondrial Research (A.P.), Institute of Genetic Medicine, Newcastle University, United Kingdom; and Department of Clinical Neurosciences (P.F.C.), School of Clinical Medicine, and MRC Mitochondrial Biology Unit (P.F.C.), University of Cambridge, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000202DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732003PMC
December 2017

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

Neurol Genet 2016 Aug 23;2(4):e82. Epub 2016 Jun 23.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience (S.A.H., E.L.B., A.I.P., M.C.R., S.A., G.F., Y.S.N., D.M.T., G.S.G., R.W.T.), The Medical School, Institute of Genetic Medicine (R.H.), Newcastle University; Nuffield Department of Obstetrics and Gynaecology (J.P.), University of Oxford; Department of Neurology (M.R.R.), King's College Hospital NHS Foundation Trust, London; Departments of Neurology and Neuropathology (O.O., N.B.), Cork University Hospital, Ireland; and The Walton Centre for Neurology and Neurosurgery (C.F.D.), Liverpool, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4972142PMC
August 2016

Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.

JAMA Neurol 2016 06;73(6):668-74

Wellcome Trust Centre for Mitochondrial Research and Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, England.

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http://dx.doi.org/10.1001/jamaneurol.2016.0355DOI Listing
June 2016

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

Nucleic Acids Res 2016 06 30;44(11):5313-29. Epub 2016 Apr 30.

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

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http://dx.doi.org/10.1093/nar/gkw382DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4914118PMC
June 2016

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

Neurology 2016 05 22;86(20):1921-3. Epub 2016 Apr 22.

From the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000002688DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4873683PMC
May 2016

The frequency of the m.1555A>G () variant in UK patients with suspected mitochondrial deafness.

Hearing Balance Commun 2016;14(2):101-102. Epub 2016 May 20.

Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.

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http://dx.doi.org/10.3109/21695717.2016.1151124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4886845PMC
May 2016

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.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0114462PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4256439PMC
December 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.

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http://dx.doi.org/10.1038/ejhg.2015.73DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4519577PMC
December 2015

Mitochondrial pathology in progressive cerebellar ataxia.

Cerebellum Ataxias 2015 4;2:16. Epub 2015 Dec 4.

Academic Department of Neurosciences, Royal Hallamshire Hospital, Glossop Road, Sheffield, S10 2JF UK.

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http://dx.doi.org/10.1186/s40673-015-0035-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4670505PMC
December 2015

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.

Ann Neurol 2015 May 28;77(5):753-9. Epub 2015 Mar 28.

Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom; Institute of Neuroscience, Henry Wellcome Building for Neuroecology, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1002/ana.24362DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4737121PMC
May 2015

Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

JAMA Neurol 2015 Jan;72(1):106-11

Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, England2Institute for Ageing and Health, National Institute for Health Research Biomedical Research Centre for Ageing, Newcastle University, Newcastle upon Tyne, Englan.

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http://dx.doi.org/10.1001/jamaneurol.2014.1753DOI Listing
January 2015

A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease.

Neuromuscul Disord 2015 Jan 28;25(1):81-4. Epub 2014 Sep 28.

Department of Neurology, University of Halle-Wittenberg, Ernst-Grube-Str. 40, Halle/Saale 06097, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2014.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4317191PMC
January 2015

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.

Genet Med 2014 Dec 5;16(12):962-71. Epub 2014 Jun 5.

Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, UK.

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http://dx.doi.org/10.1038/gim.2014.66DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4272251PMC
December 2014

A national perspective on prenatal testing for mitochondrial disease.

Eur J Hum Genet 2014 Nov 19;22(11):1255-9. Epub 2014 Mar 19.

1] Wellcome Trust Centre for Mitochondrial Research, The Medical School, Institute for Ageing and Health, Newcastle University, Newcastle-upon-Tyne, UK [2] NHS Specialised Services for Rare Mitochondrial Disorders of Adults and Children UK, Oxford, UK.

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http://dx.doi.org/10.1038/ejhg.2014.35DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4200441PMC
November 2014

Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation.

Neuromuscul Disord 2014 Jun 1;24(6):533-6. Epub 2014 Apr 1.

Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne NE2 2HH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2014.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4047625PMC
June 2014

Disease progression in patients with single, large-scale mitochondrial DNA deletions.

Brain 2014 Feb 25;137(Pt 2):323-34. Epub 2013 Nov 25.

1 Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1093/brain/awt321DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3914470PMC
February 2014

Mitochondrial DNA deletions in muscle satellite cells: implications for therapies.

Hum Mol Genet 2013 Dec 11;22(23):4739-47. Epub 2013 Jul 11.

Wellcome Trust Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.

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http://dx.doi.org/10.1093/hmg/ddt327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3820134PMC
December 2013

Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.

Neurology 2013 Dec 6;81(23):2051-3. Epub 2013 Nov 6.

From Newcastle University (C.L.A., A.M.S., P.R., K.J.K., E.L.B., L.H., K.C., R.H., D.M.T., G.S.G., R.W.T.), Newcastle upon Tyne, UK; Karolinska Institute (N.S., A.K.), Stockholm, Sweden; Hope Hospital (M.R.), Salford; and Royal Preston Hospital (A.V., J.N.), Preston, UK.

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http://dx.doi.org/10.1212/01.wnl.0000436931.94291.e6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3854830PMC
December 2013

The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease.

J Neurol Sci 2013 Feb 27;325(1-2):165-9. Epub 2012 Dec 27.

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

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http://dx.doi.org/10.1016/j.jns.2012.12.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3560033PMC
February 2013

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations.

J Neurol Neurosurg Psychiatry 2012 Sep 10;83(9):883-6. Epub 2012 May 10.

Institute of Genetic Medicine, Central Parkway, Newcastle, UK.

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http://dx.doi.org/10.1136/jnnp-2012-302568DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4034166PMC
September 2012

MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.

Neuromuscul Disord 2012 Jul 14;22(7):587-91. Epub 2012 Apr 14.

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

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https://linkinghub.elsevier.com/retrieve/pii/S09608966120009
Publisher Site
http://dx.doi.org/10.1016/j.nmd.2012.03.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3387382PMC
July 2012

Loss of myelin-associated glycoprotein in kearns-sayre syndrome.

Arch Neurol 2012 Apr;69(4):490-9

Mitochondrial Research Group, Institute for Aging and Health, Newcastle University, Framlington Place, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1001/archneurol.2011.2167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3672633PMC
April 2012

Mitochondrial tRNA mutations and disease.

Wiley Interdiscip Rev RNA 2010 Sep-Oct;1(2):304-24. Epub 2010 Jul 21.

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

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http://dx.doi.org/10.1002/wrna.27DOI Listing
March 2012

A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits.

Mitochondrion 2012 Mar 4;12(2):313-9. Epub 2011 Dec 4.

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

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http://dx.doi.org/10.1016/j.mito.2011.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824628PMC
March 2012

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

J Neurol Neurosurg Psychiatry 2012 Feb 29;83(2):174-8. Epub 2011 Oct 29.

Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.1136/jnnp-2011-301258DOI Listing
February 2012

Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.

Brain 2012 Jan 20;135(Pt 1):62-71. Epub 2011 Dec 20.

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

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http://dx.doi.org/10.1093/brain/awr326DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267986PMC
January 2012

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.

Hum Mutat 2011 Nov 19;32(11):1319-25. Epub 2011 Sep 19.

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

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http://dx.doi.org/10.1002/humu.21575DOI Listing
November 2011

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

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.

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http://linkinghub.elsevier.com/retrieve/pii/S109671921000174
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http://dx.doi.org/10.1016/j.ymgme.2010.04.010DOI Listing
August 2010

Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.

Invest Ophthalmol Vis Sci 2010 Jul 17;51(7):3340-6. Epub 2010 Feb 17.

Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle-upon-Tyne, United Kingdom.

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http://dx.doi.org/10.1167/iovs.09-4659DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2904000PMC
July 2010

The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells.

Biochem Biophys Res Commun 2010 Mar 18;393(4):740-5. Epub 2010 Feb 18.

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

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http://dx.doi.org/10.1016/j.bbrc.2010.02.072DOI Listing
March 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.

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https://linkinghub.elsevier.com/retrieve/pii/S00052728090026
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http://dx.doi.org/10.1016/j.bbabio.2009.09.005DOI Listing
February 2010

Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?

Hum Mutat 2009 Nov;30(11):E984-92

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

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http://dx.doi.org/10.1002/humu.21113DOI Listing
November 2009

The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy.

Neuromuscul Disord 2008 Jan 6;18(1):63-7. Epub 2007 Sep 6.

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

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https://linkinghub.elsevier.com/retrieve/pii/S09608966070068
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http://dx.doi.org/10.1016/j.nmd.2007.07.007DOI Listing
January 2008

Prevalence of mitochondrial DNA disease in adults.

Ann Neurol 2008 Jan;63(1):35-9

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

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http://doi.wiley.com/10.1002/ana.21217
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http://dx.doi.org/10.1002/ana.21217DOI Listing
January 2008

An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI.

Eur J Paediatr Neurol 2007 Nov 29;11(6):381-4. Epub 2007 Mar 29.

Department of Pediatric Neurology, University Hospital and Masaryk University, Brno, Czech Republic.

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http://dx.doi.org/10.1016/j.ejpn.2007.01.010DOI Listing
November 2007

Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis.

Muscle Nerve 2005 Jul;32(1):104-7

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

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http://dx.doi.org/10.1002/mus.20319DOI Listing
July 2005

A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast.

FEBS J 2005 Jul;272(14):3583-92

Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1111/j.1742-4658.2005.04779.xDOI Listing
July 2005

LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation.

Eur J Hum Genet 2005 May;13(5):623-7

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

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http://dx.doi.org/10.1038/sj.ejhg.5201363DOI Listing
May 2005

Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation.

J Neurol Sci 2004 Oct;225(1-2):99-103

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

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http://linkinghub.elsevier.com/retrieve/pii/S0022510X0400235
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http://dx.doi.org/10.1016/j.jns.2004.07.007DOI Listing
October 2004

Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.

Eur J Hum Genet 2004 Sep;12(9):778-81

Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, Framlington Place, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201216DOI Listing
September 2004

Genotypes from patients indicate no paternal mitochondrial DNA contribution.

Ann Neurol 2003 Oct;54(4):521-4

School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1002/ana.10673DOI Listing
October 2003

A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia.

Neuromuscul Disord 2003 Sep;13(7-8):568-72

Department of Neurology, The Medical School, Framlington Place, University of Newcastle upon Tyne, NE2 4HH, Newcastle upon Tyne, UK.

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September 2003

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

Nucleic Acids Res 2002 Jul;30(14):e68

Department of Neurology, The Medical School, University of Newcastle upon Tyne, Framlington Place, Newcastle upon Tyne NE2 4HH, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC135769PMC
http://dx.doi.org/10.1093/nar/gnf067DOI Listing
July 2002