Toggle Main Menu Toggle Search

Open Access padlockePrints

Browsing publications by Dr Charlotte Alston.

Newcastle AuthorsTitleYearFull text
Dr Charlotte Alston
Rui Ban
Professor Robert Taylor
Clinical implementation of RNA sequencing for Mendelian disease diagnostics2022
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 Progression2022
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 mechanisms2022
Dr Charlotte Alston
Dr Gavin Hudson
Professor Robert Taylor
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines2021
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 I2020
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 deletion2020
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 Deficiency2020
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 disease2020
Millie Fullerton
Professor Bobby McFarland
Professor Robert Taylor
Dr Charlotte Alston
The genetic basis of isolated mitochondrial complex II deficiency2020
Dr Charlotte Alston
Professor Bobby McFarland
Professor Robert Taylor
The m.15043G > A MT-CYB variant is not a pathogenic mtDNA variant2020
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 aging2020
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 disease2019
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 processing2019
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 study2019
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 Load2018
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 Deficiency2018
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 Function2018
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) deficiency2018
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 depletion2018
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 Deficiencies2017
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 myopathy2017
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 activities2017
Dr Charlotte Alston
Charlotte Knowles
Professor Robert Taylor
Professor Bobby McFarland
De novo mtDNA point mutations are common and have a low recurrence risk2017
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 dysfunction2017
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 subunits2017
Dr Charlotte Alston
Professor Robert Taylor
Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions2017
Dr Charlotte Alston
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Recent Advances in Mitochondrial Disease2017
Dr Charlotte Alston
Dr Mariana Rocha
Dr Nichola Lax
Emeritus Professor Doug Turnbull
Professor Robert Taylor
et al.
The genetics and pathology of mitochondrial disease2017
Dr Charlotte Alston
Professor Robert Taylor
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis2016
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 phenotype2016
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 Phenotype2016
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 Disease2016
Dr Charlotte Alston
Professor Robert Taylor
Cystic Leukoencephalopathy due to NDUFV1 mutation – A Report of the Phenotype and Its Rare Co-occurrence with Primary Hyperoxaluria2016
Dr Amy Vincent
Hannah Rosa
Dr Charlotte Alston
Dr John Grady
Dr Karolina Rygiel
et al.
Dysferlin mutations and mitochondrial dysfunction2016
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 bottleneck2016
Dr Amy Vincent
Dr John Grady
Dr Mariana Rocha
Dr Charlotte Alston
Dr Karolina Rygiel
et al.
Mitochondrial dysfunction in myofibrillar myopathy2016
Dr Charlotte Alston
Professor Robert Taylor
Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function2016
Dr Charlotte Alston
Professor Robert Taylor
Pathogenic mutations in TMEM126B, a recently discovered complex I assembly factor, identified in four siblings from two Belgian families2016
Dr Yi Ng
Catherine Feeney
Dr Andrew Schaefer
Paula Hynd
Dr Charlotte Alston
et al.
Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination2016
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 Deficiencies2016
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 Number2016
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 adults2016
Dr Charlotte Alston
Professor Bobby McFarland
Professor Robert Taylor
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA22016
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 disease2016
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 deafness2016
Dr Charlotte Alston
Professor Robert Taylor
Three families with 'de novo' m.3243A > G mutation2016
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 population2015
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 Deficiencies2015
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 parkinsonism2015
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 deficiency2015
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 deficiency2015
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 Disease2015
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 disease2015
Dr Charlotte Alston
Professor Robert Taylor
SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions2015
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 disease2015
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 disease2014
Dr Helen Griffin
Dr Angela Pyle
Dr Charlotte Alston
Dr Jennifer Duff
Dr Gavin Hudson
et al.
Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations2014
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" mutation2014
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 deficiency2014
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 maintenance2014
Dr Charlotte Alston
Emeritus Professor Doug Turnbull
Dr Jane Stewart
Professor Bobby McFarland
Professor Robert Taylor
et al.
PGD to prevent mitochondrial disease: embryological aspects2014
Dr Lyndsey Butterworth
Dr Laura Irving
Dr Charlotte Alston
Dr Emma Watson
Professor Bobby McFarland
et al.
Preimplantation genetic diagnosis for mitochondrial DNA disease2014
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 Deficiencies2014
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 Study2013
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 Deletions2013
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 Epilepsy2013
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 Disease2013
Dr John Yarham
Dr Charlotte Alston
Emeritus Professor Doug Turnbull
Professor Bobby McFarland
Professor Robert Taylor
et al.
The m.3291T > C mt-tRNALeu(UUR) mutation is definitely pathogenic and causes multisystem mitochondrial disease2013
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 mutations2012
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 characteristics2012
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 myopathy2012
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 disease2012
Dr Julie Murphy
Thiloka Ratnaike
Ersong Shang
Gavin Falkous
Dr Charlotte Alston
et al.
Long term endurance training and deconditioning in patients with mitochondrial myopathy2012
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 study2012
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 deficiency2012
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 deficiency2012
Dr Julie Murphy
Jane Newman
Thiloka Ratnaike
Gavin Falkous
Dr Charlotte Alston
et al.
Resistance training in patients with mitochondrial myopathy2012
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 splicing2012
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 syndrome2012
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 Mutations2011
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 pyrosequencing2011
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 deletions2011
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 families2011
Dr Charlotte Alston
Professor Rita Horvath
Professor Robert Taylor
A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy2010
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 diagnosis2010
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 muscle2010
Dr John Yarham
Dr Joanna Elson
Dr Charlotte Alston
Emeritus Professor Doug Turnbull
Professor Bobby McFarland
et al.
Assigning pathogenicity to mitochondrial tRNA gene mutations2010
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 cells2010
Professor Robert Taylor
Dr Charlotte Alston
The m.3291 T > C mtDNA mutation causes Ekbom's syndrome: expanding the clinical and genetic phenotype2010
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 families2010
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 phenotype2010
Dr Charlotte Alston
Professor Rita Horvath
Professor Robert Taylor
A novel heteroplasmic mitochondrial MT-ND5 frameshift mutation causing isolated paediatric complex I deficiency2009
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 Mutation2009
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 outcome2008