Publications by authors named "Steven A Hardy"

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The English National Lynch Syndrome transformation project: an NHS Genomic Medicine Service Alliance (GMSA) programme.
Kevin J Monahan, Neil Ryan, Laura Monje-Garcia, Ruth Armstrong, David N Church, Steven A Hardy

BMJ Oncol· October 2023

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Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA () variant.
Olivia V Poole, Alejandro Horga, Steven A Hardy, Enrico Bugiardini, Cathy E Woodward

Neurol Genet· April 2020

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Novel Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency.
Yi Shiau Ng, Kyle Thompson, Daniela Loher, Sila Hopton, Gavin Falkous, Steven A Hardy

Front Genet· February 2020

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A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.
Debby M E I Hellebrekers, Emma L Blakely, Alexandra T M Hendrickx, Steven A Hardy, Sila Hopton

Neuromuscul Disord· September 2019

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Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement.
Elena Perli, Annalinda Pisano, Ruth I C Glasgow, Miriam Carbo, Steven A Hardy

Sci Rep· March 2019

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mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.
Kyle Thompson, Nicole Mai, Monika Oláhová, Filippo Scialó, Luke E Formosa, Steven A Hardy

EMBO Mol Med· November 2018

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mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.
John P Grady, Sarah J Pickett, Yi Shiau Ng, Charlotte L Alston, Emma L Blakely, Steven A Hardy

EMBO Mol Med· June 2018

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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.
Mafalda Bacalhau, Marta Simões, Mariana C Rocha, Steven A Hardy, Amy E Vincent

Neuromuscul Disord· April 2018

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MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.
Yi Shiau Ng, Nichola Z Lax, Paul Maddison, Charlotte L Alston, Emma L Blakely, Steven A Hardy

EBioMedicine· April 2018

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Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.
Majida Charif, Alessia Nasca, Kyle Thompson, Sylvie Gerber, Christine Makowski, Steven A Hardy

JAMA Neurol· January 2018

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Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia.
Ewen W Sommerville, Rachel L Jones, Steven A Hardy, Emma L Blakely, Angela Pyle

Neurol Genet· December 2017

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Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA (m.8340G>A) gene variant.
Jaidip S Gill, Steven A Hardy, Emma L Blakely, Sila Hopton, Andrea H Nemeth

Br J Ophthalmol· September 2017

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Camptocormia and shuffling gait due to a novel mutation: Diagnostic pitfalls.
Jens Reimann, Diana Lehmann, Steven A Hardy, Gavin Falkous, Charlotte V Y Knowles

Neurol Genet· June 2017

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Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.
Monika Oláhová, Kyle Thompson, Steven A Hardy, Inês A Barbosa, Arnaud Besse

J Inherit Metab Dis· January 2017

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Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.
Yi Shiau Ng, Steven A Hardy, Venice Shrier, Gerardine Quaghebeur, David R Mole

Neuromuscul Disord· October 2016

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A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.
Charlotte L Alston, Caoimhe Howard, Monika Oláhová, Steven A Hardy, Langping He

J Med Genet· September 2016

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Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults.
Yi Shiau Ng, John P Grady, Nichola Z Lax, John P Bourke, Charlotte L Alston, Steven A Hardy

Eur Heart J· August 2016

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Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.
Steven A Hardy, Emma L Blakely, Andrew I Purvis, Mariana C Rocha, Syeda Ahmed

Neurol Genet· August 2016

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Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.
Diana Lehmann, Kathrin Schubert, Pushpa R Joshi, Steven A Hardy, Helen A L Tuppen

Eur J Hum Genet· December 2015

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LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
Monika Oláhová, Steven A Hardy, Julie Hall, John W Yarham, Tobias B Haack

Brain· December 2015

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Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.
Sara Brito, Kyle Thompson, Jaume Campistol, Jaime Colomer, Steven A Hardy

Front Genet· August 2015

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Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.
Sara Brito, Kyle Thompson, Jaume Campistol, Jaime Colomer, Steven A Hardy

Front Genet· April 2015

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Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.
Uwe Ahting, Johannes A Mayr, Arnaud V Vanlander, Steven A Hardy, Saikat Santra

Front Genet· April 2015

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Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.
Gerald Pfeffer, Rita Barresi, Ian J Wilson, Steven A Hardy, Helen Griffin

J Neurol Neurosurg Psychiatry· March 2014

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Cisplatin-induced haemolytic uraemic syndrome associated with a novel intronic mutation of treated with eculizumab.
Rodney D Gilbert, Louise K Stanley, Darren J Fowler, Elizabeth M Angus, Steven A Hardy

Clin Kidney J· August 2013

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