ePrints

The Newcastle University research output collection, currently available on ePrints, will shortly be moving to a new open repository platform, Figshare. To prepare for the data migration we have paused adding new content to ePrints, and will resume once the new repository is launched. During this time you will continue to have access to ePrints (but no new content will appear). We will share updates here when available.

Browsing publications by Dr Steven Hardy

Newcastle Authors	Title	Year	Full text
Dr Gillian Borthwick Dr Steven Hardy Professor Sir John Burn	Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway	2024
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	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	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
1 2