Professor Grainne Gorman Professor Bobby McFarland Dr Aye Moe Dr Yi Ng
| Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey | 2025 |
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Dr Yi Ng
| Adult presentation of a rare mitochondrial tRNA Val gene mutation—an expanding clinical phenotype | 2024 |
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Dr Elizaveta Olkhova Dr Laura Alexandra Smith Dr Bethany Dennis Dr Yi Ng Dr Fiona LeBeau et al. | Delineating mechanisms underlying parvalbumin neuron impairment in different neurological and neurodegenerative disorders: the emerging role of mitochondrial dysfunction | 2024 |
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Katrin Bangel Dr Albert Lim Dr Alasdair Blain Dr Yi Ng Amy Winder et al. | TRANscranial direct current stimulation for FOcal Refractory epilepsy in mitochondrial disease (TRANSFORM): delayed-start, randomised, double-blinded, placebo-controlled study | 2024 |
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Dr Elizaveta Olkhova Carla Bradshaw Emeritus Professor Doug Turnbull Dr Fiona LeBeau Dr Yi Ng et al. | A novel mouse model of mitochondrial disease exhibits juvenile-onset severe neurological impairment due to parvalbumin cell mitochondrial dysfunction | 2023 |
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Dr Yi Ng Professor Bobby McFarland
| Mitochondrial encephalomyopathy | 2023 |
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Dr Elizaveta Olkhova Dr Laura Alexandra Smith Carla Bradshaw Professor Grainne Gorman Dr Daniel Erskine et al. | Neurological Phenotypes in Mouse Models of Mitochondrial Disease and Relevance to Human Neuropathology | 2023 |
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Dr Yi Ng Professor Grainne Gorman
| Stroke-like episodes in adult mitochondrial disease | 2023 |
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Imogen Franklin Dr Paul Milne Jordan Childs Dr Roisin Boggan Isabel Barrow et al. | T cell differentiation drives the negative selection of pathogenic mitochondrial DNA variants | 2023 |
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Dr John Bourke Dr Yi Ng Dr Matthew Bates Emeritus Professor Doug Turnbull Professor Grainne Gorman et al. | Arrhythmia prevalence and sudden death risk in adults with the m.3243A>G mitochondrial disorder | 2022 |
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Dr Yi Ng Dr Nichola Lax Dr Alasdair Blain Dr Daniel Erskine Professor Mark Baker et al. | Forecasting stroke-like episodes and outcomes in mitochondrial disease | 2022 |
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Dr Renae Stefanetti Dr Yi Ng Linda Errington Dr Alasdair Blain Professor Bobby McFarland et al. | l-Arginine in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes | 2022 |
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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 |
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Dr Helen Devine Dr Yi Ng Professor Bobby McFarland Professor Grainne Gorman
| Ophthalmological involvement in m.3243A>G-related mitochondrial disease | 2022 |
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Dr David Houghton Dr Yi Ng Dr Renae Stefanetti Paula Hynd Professor Christopher Stewart et al. | Phase II feasibility study of the efficacy, tolerability and impact on the gut microbiome of a low residue (fibre) diet in adult patients with mitochondrial disease | 2022 |
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Professor Laurence Bindoff Professor Grainne Gorman Professor Bobby McFarland Dr Yi Ng Dr Robert Pitceathly et al. | Comment on “A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome” | 2021 |
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Dr Yi Ng Professor Laurence Bindoff Professor Grainne Gorman Professor Bobby McFarland Professor Robert Taylor et al. | Mitochondrial disease in adults: recent advances and future promise | 2021 |
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Dr Tiago Bernardino Gomes Dr Yi Ng Dr Sarah Pickett Emeritus Professor Doug Turnbull Dr Amy Vincent et al. | Mitochondrial DNA disorders: From pathogenic variants to preventing transmission | 2021 |
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Dr Albert Lim Dr Daniel Jones Dr Matt Bates Dr Andrew Schaefer Dr John O'Sullivan et al. | Risk of cardiac manifestations in adult mitochondrial disease caused by nuclear genetic defects | 2021 |
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Dr Yi Ng Professor Mark Baker
| Sensory Ganglionopathy | 2021 |
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Chris Hatton Dr Amy Reeve Dr Nichola Lax Dr Alasdair Blain Dr Yi Ng et al. | Complex I reductions in the nucleus basalis of Meynert in Lewy body dementia: the role of Lewy bodies | 2020 |
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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 |
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Dr Daniel Erskine Dr Amy Reeve Dr Tuomo Polvikoski Dr Andrew Schaefer Professor Robert Taylor et al. | Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls | 2020 |
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Dr Renae Stefanetti Dr Alasdair Blain Dr Cecilia Jimenez Moreno Linda Errington Dr Yi Ng et al. | Measuring the effects of exercise in neuromuscular disorders: A systematic review and meta-analyses [version 1; peer review: 2 approved] | 2020 |
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Dr Yi Ng Dr Kyle Thompson Daniela Loher Sila Hopton Gavin Falkous et al. | Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency | 2020 |
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Dr James Chapman Dr Yi Ng Dr Thomas Nicholls
| The Maintenance of Mitochondrial DNA Integrity and Dynamics by Mitochondrial Membranes. | 2020 |
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Dr Yi Ng Emeritus Professor Doug Turnbull
| When to think about mitochondrial disease | 2020 |
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Charlotte Zierz Karen Baty Sila Hopton Gavin Falkous Dr Andrew Schaefer et al. | A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia | 2019 |
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Dr Rachel Boal Dr Yi Ng Dr Sarah Pickett Dr Andrew Schaefer Catherine Feeney et al. | Height as a clinical biomarker of disease burden in adult mitochondrial disease | 2019 |
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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 |
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Dr Sarah Pickett Dr Alasdair Blain Dr Yi Ng Dr Ian Wilson Professor Robert Taylor et al. | Mitochondrial donation - Which women could benefit? | 2019 |
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Dr Luis Braz Dr Yi Ng Professor Grainne Gorman Professor Bobby McFarland Professor Robert Taylor et al. | Neuromuscular junction abnormalities in mitochondrial disease; an observational cohort study | 2019 |
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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 |
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Dr Amy Vincent Dr Kathryn White Tracey Davey Jonathan Phillips Dr Conor Lawless et al. | Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network | 2019 |
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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 |
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Dr John Grady Dr Sarah Pickett Dr Yi Ng Catherine Feeney Dr Andrew Schaefer et al. | mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease | 2018 |
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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 |
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Dr Sarah Pickett Dr John Grady Dr Yi Ng Professor Grainne Gorman Dr Andrew Schaefer et al. | Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors | 2018 |
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Dr Yi Ng Dr Henriette van Ruiten Dr Vankateswara Ramesh Professor Robert Taylor Emeritus Professor Doug Turnbull et al. | The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease | 2018 |
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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 |
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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 |
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Dr Yi Ng Professor Robert Taylor Dr Andrew Schaefer
| Diabetes Mellitus in Mitochondrial Disease | 2017 |
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Dr Yi Ng Emeritus Professor Doug Turnbull Professor Robert Taylor
| Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia | 2017 |
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