Publications by Dr Charlotte Alston - ePrints

Browsing publications by Dr Charlotte Alston.

Newcastle Authors	Title	Year
Lucie Taylor Dr Albert Lim Professor Bobby McFarland Professor Matthias Trost Dr Charlotte Alston et al.	Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease	2024
Dr Charlotte Alston Professor Robert Taylor	Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease	2024
Eleni Mavraki Dr Charlotte Alston Charlotte Knowles Jack Baines Professor Robert Taylor et al.	Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines	2023
Dr Dasha Deen Dr Charlotte Alston Professor Gavin Hudson Professor Robert Taylor Dr Angela Pyle et al.	Genomic Strategies in Mitochondrial Diagnostics	2023
Dr Charlotte Alston Rui Ban Professor Robert Taylor	Clinical implementation of RNA sequencing for Mendelian disease diagnostics	2022
Dr Albert Lim Dr Yi Ng Dr Alasdair Blain Dr Cecilia Jimenez Moreno Dr Charlotte Alston et al.	Natural History of Leigh Syndrome: A Study of Disease Burden and Progression	2022
Dr Jack Collier Dr Oliver Russell Dr Charlotte Alston Professor Bobby McFarland Professor Robert Taylor et al.	Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms	2022
Dr Charlotte Alston Professor Gavin Hudson Professor Robert Taylor	The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines	2021
Ahmad Alahmad Dr Kyle Thompson Dr Monika Olahova Dr Langping He Dr Charlotte Alston et al.	Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I	2020
Dr Charlotte Alston Marie Appleton Dr Yi Ng Professor Grainne Gorman Professor Bobby McFarland et al.	Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion	2020
Dr Charlotte Alston Lucie Taylor Dr Langping He Sila Hopton Professor Bobby McFarland et al.	Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency	2020
Dr Kyle Thompson Jack Collier Ruth Glasgow Dr Fiona Robertson Dr Angela Pyle et al.	Recent advances in understanding the molecular genetic basis of mitochondrial disease	2020
Millie Fullerton Professor Bobby McFarland Professor Robert Taylor Dr Charlotte Alston	The genetic basis of isolated mitochondrial complex II deficiency	2020
Dr Charlotte Alston Professor Bobby McFarland Professor Robert Taylor	The m.15043G > A MT-CYB variant is not a pathogenic mtDNA variant	2020
Dr Charlotte Alston Professor Grainne Gorman Emeritus Professor Doug Turnbull Professor Bobby McFarland Professor Robert Taylor et al.	Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging	2020
Dr Monika Olahova Jack Collier Dr Charlotte Alston Dr Noel Edwards Dr Langping He et al.	Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease	2019
Ahmad Alahmad Haya AL-Balool Dr Charlotte Alston Professor Rita Horvath Professor Robert Taylor et al.	Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing	2019
Dr Yi Ng Dr Mika Martikainen Professor Grainne Gorman Dr Alasdair Blain Dr Andrew Schaefer et al.	Pathogenic variants in MT-ATP6: A United Kingdom–based mitochondrial disease cohort study	2019
Dr Yi Ng Dr Nichola Lax Dr Charlotte Alston Philippa Hepplewhite Professor Patrick Chinnery et al.	MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load	2018
Dr Charlotte Alston Lucie Taylor Ruth Glasgow Professor Bobby McFarland Professor Robert Taylor et al.	Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency	2018
Dr Monika Olahova Dr Charlotte Alston Professor Robert Taylor	Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-Translational Function	2018
Dr Charlotte Alston Professor Robert Taylor	Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective?	2018
Dr Charlotte Alston Professor Robert Taylor	Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency	2018
Dr Charlotte Alston Dr Ki Pang Professor Bobby McFarland Professor Robert Taylor	Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion	2018
Dr Monika Olahova Dr Kyle Thompson Dr Charlotte Alston Professor Patrick Chinnery Professor Zofia Chrzanowska-Lightowlers et al.	Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies	2017
Dr Ewen Sommerville Dr Yi Ng Dr Charlotte Alston Dr Langping He Charlotte Knowles et al.	Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy	2017
Ewen Sommerville Dr Charlotte Alston Dr Angela Pyle Dr Langping He Gavin Falkous et al.	De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities	2017
Dr Charlotte Alston Charlotte Knowles Professor Robert Taylor Professor Bobby McFarland	De novo mtDNA point mutations are common and have a low recurrence risk	2017
Dr Mika Martikainen Dr John Grady Dr Yi Ng Dr Charlotte Alston Professor Grainne Gorman et al.	Decreased male reproductive success in association with mitochondrial dysfunction	2017
Ruth Glasgow Dr Kyle Thompson Dr Langping He Dr Charlotte Alston Professor Bobby McFarland et al.	Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits	2017
Dr Charlotte Alston Professor Robert Taylor	Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions	2017
Dr Charlotte Alston Professor Robert Taylor Emeritus Professor Doug Turnbull	Recent Advances in Mitochondrial Disease	2017
Dr Charlotte Alston Dr Mariana Rocha Dr Nichola Lax Emeritus Professor Doug Turnbull Professor Robert Taylor et al.	The genetics and pathology of mitochondrial disease	2017
Dr Charlotte Alston Professor Robert Taylor	A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis	2016
Dr Charlotte Alston Dr Monika Olahova Dr Steven Hardy Dr Langping He Professor Robert Taylor et al.	A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype	2016
Dr Charlotte Alston Dr Monika Olahova Dr John Yarham Dr Langping He Professor Robert Taylor et al.	Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype	2016
Mika Martikainen Dr Yi Ng Professor Grainne Gorman Dr Charlotte Alston Dr Andrew Schaefer et al.	Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease	2016
Dr Charlotte Alston Professor Robert Taylor	Cystic Leukoencephalopathy due to NDUFV1 mutation – A Report of the Phenotype and Its Rare Co-occurrence with Primary Hyperoxaluria	2016
Dr Amy Vincent Hannah Rosa Dr Charlotte Alston Dr John Grady Dr Karolina Rygiel et al.	Dysferlin mutations and mitochondrial dysfunction	2016
Dr Ian Wilson Pip Carling Dr Charlotte Alston Vasileios Floros Dr Angela Pyle et al.	Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck	2016
Dr Amy Vincent Dr John Grady Dr Mariana Rocha Dr Charlotte Alston Dr Karolina Rygiel et al.	Mitochondrial dysfunction in myofibrillar myopathy	2016
Dr Charlotte Alston Professor Robert Taylor	Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function	2016
Dr Charlotte Alston Professor Robert Taylor	Pathogenic mutations in TMEM126B, a recently discovered complex I assembly factor, identified in four siblings from two Belgian families	2016
Dr Yi Ng Catherine Feeney Dr Andrew Schaefer Paula Hynd Dr Charlotte Alston et al.	Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination	2016
Dr Kyle Thompson Dr Charlotte Alston Dr Langping He Dr Angela Pyle Dr Helen Griffin et al.	Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies	2016
Dr Kyle Thompson Dr Charlotte Alston Dr Langping He Professor Bobby McFarland Professor Robert Taylor et al.	Recurrent De Novo Dominant Mutations in SLC2SA4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number	2016
Dr Yi Ng Dr John Grady Dr Nichola Lax Dr John Bourke Dr Charlotte Alston et al.	Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults	2016
Dr Charlotte Alston Professor Bobby McFarland Professor Robert Taylor	Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2	2016
Dr Yi Ng Dr Charlotte Alston Dr Daria Diodato Professor Robert Taylor Professor Bobby McFarland et al.	The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease	2016
Dr Peter Kullar Professor Robert Taylor Dr Charlotte Alston Dr Emma Watson Professor Patrick Chinnery et al.	The frequency of the m.1555A > G (MTRNR1) variant in UK patients with suspected mitochondrial deafness	2016
Dr Charlotte Alston Professor Robert Taylor	Three families with 'de novo' m.3243A > G mutation	2016
Dr Monika Olahova Dr Steven Hardy Dr John Yarham William Wilson Dr Charlotte Alston et al.	LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population	2015
Dr Joanna Rorbach Dr Charlotte Alston Dr Helen Griffin Dr Angela Pyle Professor Patrick Chinnery et al.	TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies	2015
Dr Michael Keogh Daniyal Daud Dr Angela Pyle Dr Jennifer Duff Dr Helen Griffin et al.	A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism	2015
Dr Charlotte Alston Dr Monika Olahova Dr Langping He Professor Bobby McFarland Professor Robert Taylor et al.	A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency	2015
Dr Monika Olahova Dr Charlotte Alston Jess Houghton Dr Langping He Dr Andrew Morris et al.	A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency	2015
Maria Wesolowska Professor Grainne Gorman Dr Charlotte Alston Aleksandra Pajak Dr Angela Pyle et al.	Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease	2015
Professor Grainne Gorman Dr Andrew Schaefer Dr Yi Ng Dr Charlotte Alston Catherine Feeney et al.	Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease	2015
Dr Charlotte Alston Professor Robert Taylor	SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions	2015
Dr Charlotte Alston Dr Robert Pitceathly Professor Bobby McFarland Dr Andrew Schaefer Emeritus Professor Doug Turnbull et al.	The urinary proteome and metabonome differ from normal in adults with mitochondrial disease	2015
Dr Yi Ng Dr Charlotte Alston Professor Rita Horvath Professor Patrick Chinnery Emeritus Professor Doug Turnbull et al.	A genetic weakness - Phoenician legacy or Celtic heritage?	2014
Dr Victoria Nesbitt Dr Charlotte Alston Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Bobby McFarland et al.	A national perspective on prenatal testing for rnitochondrial disease	2014
Dr Helen Griffin Dr Angela Pyle Dr Charlotte Alston Dr Jennifer Duff Professor Gavin Hudson et al.	Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations	2014
Dr Charlotte Alston Gavin Falkous Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Grainne Gorman et al.	Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation	2014
Abdulraheem Almalki Dr Charlotte Alston Dr Mojgan Reza Professor Robert Lightowlers Professor Bobby McFarland et al.	Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency	2014
Dr Gerald Pfeffer Professor Grainne Gorman Dr Helen Griffin Dr Marzena Kurzawa-Akanbi Dr Ian Wilson et al.	Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance	2014
Dr Charlotte Alston Emeritus Professor Doug Turnbull Dr Jane Stewart Professor Bobby McFarland Professor Robert Taylor et al.	PGD to prevent mitochondrial disease: embryological aspects	2014
Dr Lyndsey Butterworth Dr Laura Irving Dr Charlotte Alston Dr Emma Watson Professor Bobby McFarland et al.	Preimplantation genetic diagnosis for mitochondrial DNA disease	2014
Professor Robert Taylor Dr Angela Pyle Dr Helen Griffin Dr Jennifer Duff Dr Langping He et al.	Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies	2014
Dr Nichola Lax Dr Charlotte Alston Dr Tuomo Polvikoski Dr Evelyn Jaros Dr John Yarham et al.	Early-Onset Cataracts, Spastic Paraparesis, and Ataxia Caused by a Novel Mitochondrial tRNA(Glu) (MT-TE) Gene Mutation Causing Severe Complex I Deficiency: A Clinical, Molecular, and Neuropathologic Study	2013
Dr Charlotte Alston Dr Andrew Schaefer Kim Krishnan Dr Langping He Kate Craig et al.	Late-Onset Respiratory Failure Due to Tk2 Mutations Causing Multiple MtDNA Deletions	2013
Professor Rita Horvath Dr Charlotte Alston Dr Patrick Yu Wai Man Dr Langping He Professor Robert Taylor et al.	Near-Identical Segregation of mtDNA Heteroplasmy in Blood, Muscle, Urinary Epithelium, and Hair Follicles in Twins With Optic Atrophy, Ptosis, and Intractable Epilepsy	2013
Dr John Yarham Dr Charlotte Alston Kate Craig Dr Kirstie Anderson Emeritus Professor Doug Turnbull et al.	Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease	2013
Dr John Yarham Dr Charlotte Alston Emeritus Professor Doug Turnbull Professor Bobby McFarland Professor Robert Taylor et al.	The m.3291T > C mt-tRNA^Leu(UUR) mutation is definitely pathogenic and causes multisystem mitochondrial disease	2013
Dr Gerald Pfeffer Dr Charlotte Alston Dr Adam Hassani Professor Rita Horvath Professor David Samuels et al.	Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations	2012
Dr Charlotte Alston Dr Langping He Kate Craig Dr Andrew Schaefer Professor Bobby McFarland et al.	Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics	2012
Dr Julie Murphy Gavin Falkous Dr Charlotte Alston Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Cytochrome c oxidase-intermediate fibres: Importance in understanding the pathogenesis and treatment of mitochondrial myopathy	2012
Dr Charlotte Alston Professor Rita Horvath Professor Michael Hanna Professor Patrick Chinnery Emeritus Professor Doug Turnbull et al.	Expanding the phenotypic and genotypic spectrum of adult RRM2B-related mitochondrial disease	2012
Dr Julie Murphy Thiloka Ratnaike Ersong Shang Gavin Falkous Dr Charlotte Alston et al.	Long term endurance training and deconditioning in patients with mitochondrial myopathy	2012
Dr Matt Bates Dr Victoria Nesbitt Dr Langping He Dr Charlotte Alston Dr Malcolm Brodlie et al.	Mitochondrial respiratory chain disease in children undergoing cardiac transplantation: A prospective study	2012
Dr Charlotte Alston Dr Langping He Gavin Falkous Professor Bobby McFarland Professor Robert Taylor et al.	Novel SDHA and SDHB mutations as a cause of isolated mitochondria! complex II deficiency	2012
Dr Charlotte Alston Dr Hue Hornig - Do Professor Bobby McFarland Professor Robert Taylor	Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency	2012
Dr Julie Murphy Jane Newman Thiloka Ratnaike Gavin Falkous Dr Charlotte Alston et al.	Resistance training in patients with mitochondrial myopathy	2012
Dr Charlotte Alston Dr Andrew Schaefer Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Grainne Gorman et al.	The c.48G > A variant in the mitochondrial DNA maintenance gene, RRM2B, causes adult-onset autosomal dominant PEO via aberrant splicing	2012
Dr Victoria Nesbitt Dr Charlotte Alston Professor Bobby McFarland Professor Robert Taylor	The clinical spectrum of the m.10191T > C mutation in complex I-deficient Leigh syndrome	2012
John Yarham Dr Charlotte Alston Professor Robert Taylor Dr Joanna Elson Professor Bobby McFarland et al.	A Comparative Analysis Approach to Determining the Pathogenicity of Mitochondrial tRNA Mutations	2011
Dr Charlotte Alston Dr Lyndsey Butterworth Professor Mary Herbert Emeritus Professor Doug Turnbull	Analysis of mitochondrial DNA mutant loads in oocytes & preimplantation embryos for the 14709T > C & 14487T > C mtDNA mutations by pyrosequencing	2011
Dr Charlotte Alston Dr Robert Pitceathly Professor Michael Hanna Dr Andrew Schaefer Professor Patrick Chinnery et al.	Dominant and recessive RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions	2011
Dr Charlotte Alston Dr Andrew Morris Emeritus Professor Doug Turnbull Professor Bobby McFarland Professor Robert Taylor et al.	Maternally inherited mitochondrial DNA disease in consanguineous families	2011
Dr Charlotte Alston Professor Rita Horvath Professor Robert Taylor	A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy	2010
Dr Charlotte Alston Emeritus Professor Doug Turnbull Professor Robert Taylor	A novel mitochondrial tRNA gene mutation causing PEO present at very low levels in skeletal muscle: implications for molecular diagnosis	2010
Dr Charlotte Alston Emeritus Professor Doug Turnbull Professor Robert Taylor	A novel mitochondrial tRNA(Glu) (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle	2010
Dr John Yarham Dr Joanna Elson Dr Charlotte Alston Emeritus Professor Doug Turnbull Professor Bobby McFarland et al.	Assigning pathogenicity to mitochondrial tRNA gene mutations	2010
Dr John Blackwood Professor Roger Whittaker Dr Charlotte Alston Emeritus Professor Doug Turnbull Professor Robert Taylor et al.	The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells	2010
Professor Robert Taylor Dr Charlotte Alston	The m.3291 T > C mtDNA mutation causes Ekbom's syndrome: expanding the clinical and genetic phenotype	2010
Dr Helen Tuppen Dr Vanessa Hogan Dr Langping He Dr Mazhor Aldosary Dr Gabriele Saretzki et al.	The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families	2010
Dr Charlotte Alston Professor Bobby McFarland Professor Rita Horvath Professor Robert Taylor	The pathogenic m.3243A > T mitochondrial DNA mutation is associated with a variable neurological phenotype	2010
Dr Charlotte Alston Professor Rita Horvath Professor Robert Taylor	A novel heteroplasmic mitochondrial MT-ND5 frameshift mutation causing isolated paediatric complex I deficiency	2009
Professor Roger Whittaker Dr John Blackwood Dr Charlotte Alston Dr Joanna Elson Professor Bobby McFarland et al.	Urine Heteroplasmy is the Best Predictor of Clinical Outcome in the m.3243A>G mtDNA Mutation	2009
Dr Charlotte Alston Professor Roger Whittaker Dr John Blackwood Professor Bobby McFarland Emeritus Professor Doug Turnbull et al.	Urinary epithelia as an indicator of m.3243A>G heteroplasmy levels and predictor of clinical outcome	2008