Charlotte L Alston

Charlotte L Alston

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Charlotte L Alston

Charlotte L Alston

Publications by authors named "Charlotte L Alston"

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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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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 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

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