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Browsing publications by Dr Steven Hardy

Newcastle AuthorsTitleYearFull text
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 Deficiency2020
Ruth Glasgow
Dr Steven Hardy
Gavin Falkous
Dr Langping He
Professor Robert Taylor
Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement2019
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 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 defect2018
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 variant2018
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 pitfalls2017
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 Ophthalmoplegia2017
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 aciduria2017
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 variant2017
Dr Charlotte Alston
Dr Monika Olahova
Dr Steven Hardy
Dr Langping He
Professor Robert Taylor
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype2016
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 biopsy2016
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 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 Steven Hardy
Professor Robert Taylor
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency2015
Dr Kyle Thompson
Dr Steven Hardy
Dr Langping He
Professor Bobby McFarland
Professor Robert Taylor
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.2015.001022015
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