Dr Kyle Thompson
Dr Langping He
Professor Zofia Chrzanowska-Lightowlers
Professor Robert Taylor
| Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease | 2023 |
|
Dr Kyle Thompson
Dr Monika Olahova
Dr Langping He
Dr Thomas McCorvie
Professor Wyatt Yue
et al. | Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54 | 2023 |
|
Dr Langping He
Professor Robert Taylor
| Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease | 2021 |
|
Dr Francesco Bruni
Dr Langping He
Professor Robert Taylor
Professor Zofia Chrzanowska-Lightowlers
| Biallelic Mutations in MTPAP Associated with a Lethal Encephalophy | 2020 |
|
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 Hannah Steele
Dr Angela Pyle
Sila Hopton
Jane Newman
Dr Renae Stefanetti
et al. | Metabolic effects of bezafibrate in mitochondrial disease. | 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 Albert Lim
Karen Baty
Dr Langping He
Sila Hopton
Gavin Falkous
et al. | A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes | 2019 |
|
Dr Ewen Sommerville
Dr Francesco Bruni
Dr Kyle Thompson
Dr Mariana Rocha
Dr Langping He
et al. | Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance | 2019 |
|
Dr Ewen Sommerville
Dr Monika Olahova
Dr Angela Pyle
Dr Langping He
Professor Bobby McFarland
et al. | Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy | 2019 |
|
Dr Hannah Hayhurst
Charlotte Alston
Dr Kyle Thompson
Dr Langping He
Sila Hopton
et al. | Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis | 2019 |
|
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 |
|
Ruth Glasgow
Dr Steven Hardy
Gavin Falkous
Dr Langping He
Professor Robert Taylor
et al. | Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement | 2019 |
|
Dr Kyle Thompson
Dr Monika Olahova
Dr Filippo Scialo
Dr Nichola Lax
Dr Fiona Robertson
et al. | OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect | 2018 |
|
Dr Langping He
Professor Robert Taylor
| A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency | 2018 |
|
Dr Kyle Thompson
Dr Langping He
Professor Robert Taylor
| A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways | 2018 |
|
Dr Francesco Bruni
Professor Bobby McFarland
Professor Zofia Chrzanowska-Lightowlers
Dr Langping He
Professor Robert Taylor
et al. | Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease | 2018 |
|
Dr Francesco Bruni
Dr Kyle Thompson
Dr Langping He
Dr Arjan De Brouwer
Professor Robert Taylor
et al. | Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23) | 2018 |
|
Dr Kyle Thompson
Ahmad Alahmad
Dr Langping He
Professor Robert Taylor
| Expanding the clinical phenotype of IARS2-related mitochondrial disease | 2018 |
|
Dr Kyle Thompson
Sila Hopton
Dr Langping He
Professor Robert Taylor
| Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy | 2018 |
|
Rizwan Nisar
Dr Peter Hanson
Dr Paul Keane
Dr Langping He
Professor Robert Taylor
et al. | Manganese-Containing Thiocarbamates Cause Free Radical Production and Caspase-Independent Cell Death following Mitochondrial Dysfunction in Neural Cells | 2018 |
|
Dr Mariana Rocha
Hannah Rosa
Dr John Grady
Dr Langping He
Jane Newman
et al. | Pathological mechanisms underlying single large-scale mitochondrial DNA deletions | 2018 |
|
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 |
|
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 Emma Watson
Dr Langping He
Professor Robert Taylor
| POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism | 2017 |
|
Syeda Ahmed
Charlotte Alston
Sila Hopton
Dr Langping He
Gavin Falkous
et al. | Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency | 2017 |
|
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 |
|
Dr Langping He
Professor Bobby McFarland
Professor Robert Taylor
| Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: A case report | 2016 |
|
Dr Langping He
Dr Matt Bates
Professor Robert Taylor
| Impaired mitochondrial biogenesis is a common feature to myocardial hypertrophy and end-stage ischemic heart failure | 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 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 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 |
|
Dr Kyle Thompson
Dr Steven Hardy
Dr Langping He
Professor Bobby McFarland
Professor Robert Taylor
et al. | Corrigendum to "Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations" [Front. Genet., 6 (2015) 102] DOI:10.3389/fgene.2015.00102 | 2015 |
|
Rizwan Nisar
Dr Peter Hanson
Dr Langping He
Professor Robert Taylor
Professor Peter Blain
et al. | Diquat causes caspase-independent cell death in SH-SY5Y cells by production of ROS independently of mitochondria | 2015 |
|
Dr Kyle Thompson
Dr Steven Hardy
Dr Langping He
Professor Bobby McFarland
Professor Robert Taylor
et al. | Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations | 2015 |
|
Dr Nichola Lax
Dr Langping He
Gavin Falkous
Professor Bobby McFarland
Professor Robert Taylor
et al. | Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations | 2015 |
|
Professor Grainne Gorman
Dr Hue Hornig - Do
Dr Helen Tuppen
Professor Laura Greaves
Dr Langping He
et al. | Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression | 2015 |
|
Kate Craig
Anna Butterworth
Dr Langping He
Professor Robert Taylor
| Clinical and Molecular Characteristics of Mitochondrial DNA Depletion Syndrome Associated with Neonatal Cholestasis and Liver Failure | 2014 |
|
Dr John Yarham
Dr Angela Pyle
Dr Francesco Bruni
Dr Langping He
Dr Helen Griffin
et al. | Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and its Substrate tRNA | 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 |
|
Professor Robert Taylor
Dr Langping He
Professor Patrick Chinnery
| A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders | 2013 |
|
Dr Helen Tuppen
Dr Langping He
Professor Robert Taylor
| Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features | 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 Liesbeth De Waele
Dr Michelle Eagle
Dr Richard Charlton
Dr Langping He
Dr Emma Watson
et al. | Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities | 2013 |
|
Anna Butterworth
Dr Langping He
Professor Bobby McFarland
Professor Robert Taylor
| MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle | 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 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 |
|
Anna Butterworth
Dr Langping He
Professor Bobby McFarland
Professor Robert Taylor
| MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle | 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 Vanessa Hogan
Dr Langping He
Professor Zofia Chrzanowska-Lightowlers
Professor Robert Taylor
| Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy | 2010 |
|
Dr Patrick Yu Wai Man
Dr Gillian Borthwick
Dr Langping He
Geoffrey Taylor
Professor Laura Greaves
et al. | Somatic Mitochondrial DNA Deletions Accumulate to High Levels in Aging Human Extraocular Muscles | 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 Helen Swalwell
Professor Bobby McFarland
Dr Joanna Elson
Dr Langping He
Emerita Professor Katherine Bushby
et al. | A maternally inherited mitochondrial tRNA mutation masquerading as limb girdle muscular dystrophy: Insights into the transmission of mtDNA mutations | 2007 |
|
Professor Robert Taylor
Dr Andrew Schaefer
Dr Langping He
Professor Bobby McFarland
Professor Roger Whittaker
et al. | [abstract] The prevalence of pathogenic mitochondrial DNA mutations in adults | 2006 |
|
Dr Langping He
Professor Robert Taylor
Professor Patrick Chinnery
Professor Robert Lightowlers
Dr Andrew Schaefer
et al. | Mitochondrial DNA deletion in identical twins | 2004 |
|
Professor Robert Taylor
Dr Langping He
Professor Laura Greaves
Geoffrey Taylor
Dr Martin Barron
et al. | Mitochondrial DNA mutations in human colonic crypt stem cells | 2004 |
|
Dr Martin Barron
Dr Margaret Johnson
Dr Richard Andrews
Michael Clarke
Philip Griffiths
et al. | Mitochondrial abnormalities in ageing macular photoreceptors | 2001 |
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