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 |
|
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 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 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 Mariana Rocha
Dr Steven Hardy
Dr Amy Vincent
Professor Robert Taylor
| Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant | 2018 |
|
Dr Diana Lehmann
Dr Steven Hardy
Gavin Falkous
Charlotte Knowles
Rachel Phelps
et al. | Camptocormia and shuffling gait due to a novel MT-TV mutation: Diagnostic pitfalls | 2017 |
|
Dr Ewen Sommerville
Rachel Phelps
Dr Steven Hardy
Dr Angela Pyle
Dr Andrew Schaefer
et al. | Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia | 2017 |
|
Dr Monika Olahova
Dr Kyle Thompson
Dr Steven Hardy
Maria-Eleni Anagnostou
Dr Kathryn White
et al. | Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria | 2017 |
|
Dr Steven Hardy
Dr Emma Watson
Sila Hopton
Professor Robert Taylor
| Pigmentary retinopathy, rod–cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNALys (m.8340G>A) gene variant | 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 Steven Hardy
Dr Andrew Purvis
Dr Mariana Rocha
Syeda Ahmed
Gavin Falkous
et al. | Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy | 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 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 Steven Hardy
Professor Robert Taylor
| Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency | 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 |
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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 Diana Lehmann
Dr Steven Hardy
Dr Helen Tuppen
Karen Baty
Professor Robert Taylor
et al. | Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy | 2015 |
|
Dr Steven Hardy
Professor Robert Taylor
| Mutations in APOPT1, Encoding a Mitochondria! Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency | 2014 |
|
Dr Sarah Johnson
Dr Steven Hardy
Dr David Bourn
Dr Ujjal Mallick
Dr Petros Perros
et al. | Pilot of BRAF mutation analysis in indeterminate, suspicious and malignant thyroid FNA cytology | 2014 |
|
Dr Gerald Pfeffer
Dr Rita Barresi
Dr Ian Wilson
Dr Steven Hardy
Dr Helen Griffin
et al. | Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure | 2014 |
|
Dr Steven Hardy
Professor Tim Goodship
| Eculizumab therapy for atypical haemolytic uraemic syndrome due to a gain-of-function mutation of complement factor B | 2013 |
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