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Author/Creator Hardy, Steven A

1. A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. Issue 9 (18th April 2016)

Authors:
Alston, Charlotte L; Howard, Caoimhe; Oláhová, Monika; Hardy, Steven A; He, Langping; Murray, Philip G; O'Sullivan, Siobhan; Doherty, Gary; Shield, Julian P H; Hargreaves, Iain P; Monavari, Ardeshir A; Knerr, Ina; McCarthy, Peter; Morris, Andrew A M; Thorburn, David R; Prokisch, Holger; Clayton, ...
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 9(2016)
Page Start:
634
Record Type:
Journal Article
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2. OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect. Issue 11 (10th September 2018)

Authors:
Thompson, Kyle; Mai, Nicole; Oláhová, Monika; Scialó, Filippo; Formosa, Luke E; Stroud, David A; Garrett, Madeleine; Lax, Nichola Z; Robertson, Fiona M; Jou, Cristina; Nascimento, Andres; Ortez, Carlos; Jimenez‐Mallebrera, Cecilia; Hardy, Steven A; He, Langping; Brown, Garry K; Marttinen, Paula; ...
Journal:
EMBO molecular medicine
Issue:
Volume 10:Issue 11(2018)
Page Start:
n/a
Record Type:
Journal Article
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3. Pigmentary retinopathy, rod–cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNALys (m.8340G>A) gene variant. Issue 9 (20th July 2017)

Authors:
Gill, Jaidip S; Hardy, Steven A; Blakely, Emma L; Hopton, Sila; Nemeth, Andrea H; Fratter, Carl; Poulton, Joanna; Taylor, Robert W; Downes, Susan M
Journal:
British journal of ophthalmology
Issue:
Volume 101:Issue 9(2017)
Page Start:
1298
Record Type:
Journal Article
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4. Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. Issue 3 (13th March 2013)

Authors:
Pfeffer, Gerald; Barresi, Rita; Wilson, Ian J; Hardy, Steven A; Griffin, Helen; Hudson, Judith; Elliott, Hannah R; Ramesh, Aravind V; Radunovic, Aleksandar; Winer, John B; Vaidya, Sujit; Raman, Ashok; Busby, Mark; Farrugia, Maria E; Ming, Alec; Everett, Chris; Emsley, Hedley C A; Horvath, Rita; S...
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 85:Issue 3(2014)
Page Start:
331
Record Type:
Journal Article
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