Publications by authors named "Charlotte L Alston"

84Publications

The genetic basis of isolated mitochondrial complex II deficiency.

Mol Genet Metab 2020 Oct 3. Epub 2020 Oct 3.

Wellcome Centre for Mitochondrial Research, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2020.09.009DOI Listing
October 2020

Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging.

Genome Biol 2020 09 17;21(1):248. Epub 2020 Sep 17.

Genome Integrity and Structural Biology Laboratory, Mitochondrial DNA Replication Group, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, 27709, USA.

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http://dx.doi.org/10.1186/s13059-020-02138-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7500033PMC
September 2020

The m.15043G > A MT-CYB variant is not a pathogenic mtDNA variant.

J Neurol Sci 2020 10 29;417:116950. Epub 2020 May 29.

Wellcome Centre for Mitochondrial Research, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK.

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http://dx.doi.org/10.1016/j.jns.2020.116950DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7521199PMC
October 2020

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.

Am J Hum Genet 2020 01 19;106(1):92-101. Epub 2019 Dec 19.

Wellcome Centre for Mitochondrial Research, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042492PMC
January 2020

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

J Inherit Metab Dis 2020 01 10;43(1):36-50. Epub 2019 May 10.

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7041634PMC
January 2020

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.

Am J Hum Genet 2018 07;103(1):100-114

IAS HKUST - Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China; The Scripps Laboratories for tRNA Synthetase Research, The Scripps Research Institute, 10650 North Torrey Pines Road, La Jolla, CA 92037, USA; The Scripps Laboratories for tRNA Synthetase Research, Scripps Florida, 130 Scripps Way, Jupiter, FL 33458, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6035289PMC
July 2018

De novo variant is associated with decreased mitochondrial respiratory chain activities.

Neurol Genet 2017 Oct 22;3(5):e187. Epub 2017 Sep 22.

Wellcome Centre for Mitochondrial Research (E.W.S., C.L.A., L.H., G.F., R.M., R.W.T.), Institute of Neuroscience, Newcastle University, United Kingdom; Department of Molecular and Human Genetics (E.W.S.), Baylor College of Medicine, Houston, TX; Wellcome Centre for Mitochondrial Research (A.P.), Institute of Genetic Medicine, Newcastle University; Armistead Child Development Centre (K.N.), Kings Cross Hospital, Dundee, Scotland; Department of Clinical Neurosciences (P.F.C.), School of Clinical Medicine, University of Cambridge; and MRC Mitochondrial Biology Unit (P.F.C.), University of Cambridge, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5610040PMC
October 2017

Decreased male reproductive success in association with mitochondrial dysfunction.

Eur J Hum Genet 2017 10 16;25(10):1162-1164. Epub 2017 Aug 16.

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

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http://dx.doi.org/10.1038/ejhg.2017.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5600812PMC
October 2017

Recent Advances in Mitochondrial Disease.

Annu Rev Genomics Hum Genet 2017 08 17;18:257-275. Epub 2017 Apr 17.

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom; email:

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http://dx.doi.org/10.1146/annurev-genom-091416-035426DOI Listing
August 2017

Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions.

Neurol Genet 2016 Dec 19;2(6):e113. Epub 2016 Oct 19.

Form the Department of Neurology (D.L., M.E.K., C.C., S.Z.), Institute of Medical Epidemiology, Biometrics and Informatics (A.W.), University of Halle-Wittenberg, Halle/Saale, Germany; Wellcome Trust Centre for Mitochondrial Research (C.L.A., R.W.T.), Institute of Neuroscience, The Medical School, Newcastle University, UK; and Department of Neurology (M.D.), Technical University Munich, Germany.

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http://dx.doi.org/10.1212/NXG.0000000000000113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5089902PMC
December 2016

The genetics and pathology of mitochondrial disease.

J Pathol 2017 Jan 2;241(2):236-250. Epub 2016 Nov 2.

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

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http://dx.doi.org/10.1002/path.4809DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5215404PMC
January 2017

Dysferlin mutations and mitochondrial dysfunction.

Neuromuscul Disord 2016 11 29;26(11):782-788. Epub 2016 Aug 29.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.08.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5091283PMC
November 2016

Mitochondrial dysfunction in myofibrillar myopathy.

Neuromuscul Disord 2016 10 10;26(10):691-701. Epub 2016 Aug 10.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5066370PMC
October 2016

Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination.

Ann Neurol 2016 Nov 19;80(5):686-692. Epub 2016 Sep 19.

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

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http://dx.doi.org/10.1002/ana.24736DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5215534PMC
November 2016

Three families with 'de novo' m.3243A > G mutation.

BBA Clin 2016 Dec 29;6:19-24. Epub 2016 Apr 29.

Radboud University Medical Center Amalia Children's Hospital, Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.bbacli.2016.04.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4900294PMC
December 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

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

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.

J Neuropathol Exp Neurol 2015 Jul;74(7):688-703

From the Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK (NZL, CLA, LH, GF, RM, RWT); East Anglian Medical Genetics Service, Cambridge University Hospital NHS foundations Trust, Cambridge Biomedical Campus, Cambridge, UK (KS, SP); Department of Paediatric Neurology, Addenbrooke's Hospital, Cambridge Biomedical Campus, Cambridge UK (DK); Neonatal Unit, The Rosie Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK (AO); The Centre for Fetal Care, Queen Charlotte's and Chelsea Hospital, Du Cane Road, London, UK (CL); Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK (RHK); Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK (IPH); Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Trust, Oxford, UK (GKB); and Department of Histopathology, Cambridge University Hospital NHS foundations Trust, Cambridge, UK (AFD).

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http://dx.doi.org/10.1097/NEN.0000000000000209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4470523PMC
July 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

The urinary proteome and metabonome differ from normal in adults with mitochondrial disease.

Kidney Int 2015 Mar 10;87(3):610-22. Epub 2014 Sep 10.

Medical Research Council Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, University College London Institute of Neurology, London, UK.

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http://dx.doi.org/10.1038/ki.2014.297DOI Listing
March 2015

SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions.

J Neurol Neurosurg Psychiatry 2015 Jun 20;86(6):630-4. Epub 2014 Aug 20.

Department of Neurology, Martin-Luther-University Halle-Wittenberg, Halle (Saale), Germany.

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http://jnnp.bmj.com/content/86/6/630.full.pdf
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http://jnnp.bmj.com/lookup/doi/10.1136/jnnp-2013-306748
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http://dx.doi.org/10.1136/jnnp-2013-306748DOI Listing
June 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

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

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

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

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.

Biochim Biophys Acta 2014 Jan 24;1842(1):56-64. Epub 2013 Oct 24.

Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne NE2 4HH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2013.10.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898479PMC
January 2014

Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease.

Int J Cardiol 2013 Oct 3;168(4):3599-608. Epub 2013 Jun 3.

Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne NE2 4HH, UK; Cardiothoracic Centre, Freeman Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE7 7DN, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2013.05.062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3819621PMC
October 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

The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.

Dev Med Child Neurol 2012 Jun 27;54(6):500-6. Epub 2012 Feb 27.

Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle Upon Tyne, UK.

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http://dx.doi.org/10.1111/j.1469-8749.2012.04224.xDOI Listing
June 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

Maternally inherited mitochondrial DNA disease in consanguineous families.

Eur J Hum Genet 2011 Dec 29;19(12):1226-9. Epub 2011 Jun 29.

Mitochondrial Research Group and NCG Mitochondrial Laboratory, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1038/ejhg.2011.124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3230363PMC
December 2011

A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle.

J Neurol Sci 2010 Nov;298(1-2):140-4

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

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http://dx.doi.org/10.1016/j.jns.2010.08.014DOI Listing
November 2010

The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype.

Neuromuscul Disord 2010 Jun 14;20(6):403-6. Epub 2010 May 14.

Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S096089661000183
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http://dx.doi.org/10.1016/j.nmd.2010.04.003DOI Listing
June 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

A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy.

Neuromuscul Disord 2010 Feb 16;20(2):131-5. Epub 2009 Dec 16.

Mitochondrial Research Group and NCG Rare Mitochondrial Disorders of Adults and Children Service, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1016/j.nmd.2009.10.010DOI Listing
February 2010