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Author Steven A Hardy

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Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant.

Olivia V Poole, Alejandro Horga, Steven A Hardy, Enrico Bugiardini, Cathy E Woodward, Iain P Hargreaves, Ashirwad Merve, Rosaline Quinlivan, Robert W Taylor, Michael G Hanna, Robert D S Pitceathly,

Neurol Genet (Neurology. Genetics)
[2020, 6(2):e413]

Cited: 0 times

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Novel MT-ND 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, Andrew M Schaefer, Sandip Shaunak, Mark E Roberts, James B Lilleker, Robert W Taylor,

Mitochondrial complex I deficiency is associated with a diverse range of clinical phenotypes and can arise due to either mitochondrial DNA (mtDNA) or nuclear gene defects. We investigated two adult patients who exhibited non-syndromic neurological features and evidence of isolated mitochondrial complex I deficiency in skeletal muscle biopsies. The first ... Read more >>

Front Genet (Frontiers in genetics)
[2020, 11:24]

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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, Gavin Falkous, Irenaeus F M de Coo, Hubert J M Smeets, Nadine M E van der Beek, Robert W Taylor,

We report a novel mitochondrial m.4414T>C variant in the mt-tRNAMet (MT-TM) gene in an adult patient with chronic progressive external ophthalmoplegia and myopathy whose muscle biopsy revealed focal cytochrome c oxidase (COX)-deficient and ragged red fibres. The m.4414T>C variant occurs at a strongly evolutionary conserved sequence position, disturbing a canonical ... Read more >>

Neuromuscul. Disord. (Neuromuscular disorders : NMD)
[2019, 29(9):693-697]

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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, Gavin Falkous, Langping He, Bruna Cerbelli, Maria Gemma Pignataro, Elisabetta Zacara, Federica Re, Paola Lilla Della Monica, Veronica Morea, Penelope E Bonnen, Robert W Taylor, Giulia d'Amati, Carla Giordano,

Primary mitochondrial dysfunction is an under-appreciated cause of cardiomyopathy, especially when cardiac symptoms are the unique or prevalent manifestation of disease. Here, we report an unusual presentation of mitochondrial cardiomyopathy, with dilated phenotype and pathologic evidence of biventricular fibro-adipose replacement, in a 33-year old woman who underwent cardiac transplant. Whole ... Read more >>

Sci Rep (Scientific reports)
[2019, 9(1):5108]

Cited: 1 time

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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, Catherine L Feeney, Alexandra A Bright, Andrew M Schaefer, Gráinne S Gorman, Richard Jq McNally, Robert W Taylor, Doug M Turnbull, Robert McFarland,

Mitochondrial disease associated with the pathogenic m.3243A>G variant is a common, clinically heterogeneous, neurogenetic disorder. Using multiple linear regression and linear mixed modelling, we evaluated which commonly assayed tissue (blood N = 231, urine N = 235, skeletal muscle N = 77) represents the m.3243A>G mutation load and mitochondrial DNA (mtDNA) copy number most strongly associated ... Read more >>

EMBO Mol Med (EMBO molecular medicine)
[2018, 10(6):]

Cited: 10 times

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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, Andrew M Schaefer, Patrick F Chinnery, Douglass M Turnbull, Gráinne S Gorman, Robert W Taylor,

Neurol Genet (Neurology. Genetics)
[2017, 3(6):e202]

Cited: 0 times

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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, Philippa D Hepplewhite, Gillian Riordan, Surita Meldau, Patrick F Chinnery, Germaine Pierre, Efstathia Chronopoulou, Ailian Du, Imelda Hughes, Andrew A Morris, Smaragda Kamakari, Georgia Chrousos, Richard J Rodenburg, Christiaan G J Saris, Catherine Feeney, Steven A Hardy, Takafumi Sakakibara, Akira Sudo, Yasushi Okazaki, Kei Murayama, Helen Mundy, Michael G Hanna, Akira Ohtake, Andrew M Schaefer, Mike P Champion, Doug M Turnbull, Robert W Taylor, Robert D S Pitceathly, Robert McFarland, Gráinne S Gorman,

Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS). In this retrospective, international cohort study we identified 20 clinically affected individuals (13 families) and four asymptomatic carriers. Ten patients were deceased at the time of analysis (median age of death was 10years ... Read more >>

EBioMedicine (EBioMedicine)
[2018, 30:86-93]

Cited: 5 times

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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, Neda Mazaheri, Céline Bris, David Goudenège, Andrea Legati, Reza Maroofian, Gholamreza Shariati, Eleonora Lamantea, Sila Hopton, Anna Ardissone, Isabella Moroni, Melania Giannotta, Corinna Siegel, Tim M Strom, Holger Prokisch, Catherine Vignal-Clermont, Sabine Derrien, Xavier Zanlonghi, Josseline Kaplan, Christian P Hamel, Stephanie Leruez, Vincent Procaccio, Dominique Bonneau, Pascal Reynier, Frances E White, Steven A Hardy, Inês A Barbosa, Michael A Simpson, Roshni Vara, Yaumara Perdomo Trujillo, Hamind Galehdari, Charu Deshpande, Tobias B Haack, Jean-Michel Rozet, Robert W Taylor, Daniele Ghezzi, Patrizia Amati-Bonneau, Guy Lenaers,

Importance:Neurologic disorders with isolated symptoms or complex syndromes are relatively frequent among mitochondrial inherited diseases. Recessive RTN4IP1 gene mutations have been shown to cause isolated and syndromic optic neuropathies. Objective:To define the spectrum of clinical phenotypes associated with mutations in RTN4IP1 encoding a mitochondrial quinone oxidoreductase. Design, Setting, and Participants:This ... Read more >>

JAMA Neurol (JAMA neurology)
[2018, 75(1):105-113]

Cited: 0 times

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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, João Durães, Maria C Macário, Maria João Santos, Olinda Rebelo, Carla Lopes, João Pratas, Cândida Mendes, Mónica Zuzarte, A Cristina Rego, Henrique Girão, Lee-Jun C Wong, Robert W Taylor, Manuela Grazina,

Chronic Progressive External Ophthalmoplegia (CPEO) is characterized by ptosis and ophthalmoplegia and is usually caused by mitochondrial DNA (mtDNA) deletions or mt-tRNA mutations. The aim of the present work was to clarify the genetic defect in a patient presenting with CPEO and elucidate the underlying pathogenic mechanism. This 62-year-old female ... Read more >>

Neuromuscul. Disord. (Neuromuscular disorders : NMD)
[2018, 28(4):350-360]

Cited: 0 times

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Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNALys (m.8340G>A) gene variant.

Jaidip S Gill, Steven A Hardy, Emma L Blakely, Sila Hopton, Andrea H Nemeth, Carl Fratter, Joanna Poulton, Robert W Taylor, Susan M Downes,

The rare mitochondrial DNA (mtDNA) variant m.8340G>A has been previously reported in the literature in a single, sporadic case of mitochondrial myopathy. In this report, we aim to investigate the case of a 39-year-old male patient with sensorineural deafness who presented to the eye clinic with nyctalopia, retinal pigmentary changes ... Read more >>

Br J Ophthalmol (The British journal of ophthalmology)
[2017, 101(9):1298-1302]

Cited: 1 time

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Camptocormia and shuffling gait due to a novel MT-TV mutation: Diagnostic pitfalls.

Jens Reimann, Diana Lehmann, Steven A Hardy, Gavin Falkous, Charlotte V Y Knowles, Rachel L Jones, Wolfram S Kunz, Robert W Taylor, Cornelia Kornblum,

Neurol Genet (Neurology. Genetics)
[2017, 3(3):e147]

Cited: 0 times

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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, Maria-Eleni Anagnostou, Kathryn White, Tracey Davey, Michael A Simpson, Michael Champion, Greg Enns, Susan Schelley, Robert N Lightowlers, Zofia M A Chrzanowska-Lightowlers, Robert McFarland, Charu Deshpande, Penelope E Bonnen, Robert W Taylor,

Mitochondrial diseases collectively represent one of the most heterogeneous group of metabolic disorders. Symptoms can manifest at any age, presenting with isolated or multiple-organ involvement. Advances in next-generation sequencing strategies have greatly enhanced the diagnosis of patients with mitochondrial disease, particularly where a mitochondrial aetiology is strongly suspected yet OXPHOS ... Read more >>

J. Inherit. Metab. Dis. (Journal of inherited metabolic disease)
[2017, 40(1):121-130]

Cited: 4 times

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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, Matthew J Daniels, Susan M Downes, Jane Freebody, Carl Fratter, Monika Hofer, Andrea H Nemeth, Joanna Poulton, Robert W Taylor,

Mitochondrial DNA disease is one of the most common groups of inherited neuromuscular disorders and frequently associated with marked phenotypic and genotypic heterogeneity. We describe an adult patient who initially presented with childhood-onset ataxia without a family history and an unremarkable diagnostic muscle biopsy. Subsequent multi-system manifestations included basal ganglia ... Read more >>

Neuromuscul. Disord. (Neuromuscular disorders : NMD)
[2016, 26(10):702-705]

Cited: 1 time

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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, Gavin Falkous, Joanna Poulton, Michael R Rose, Olivia O'Mahony, Niamh Bermingham, Charlotte F Dougan, Yi Shiau Ng, Rita Horvath, Doug M Turnbull, Grainne S Gorman, Robert W Taylor,

Pathogenic mitochondrial tRNA (mt-tRNA) gene mutations represent a prominent cause of primary mitochondrial DNA (mtDNA)-related disease despite accounting for only 5%-10% of the mitochondrial genome.(1,2) Although some common mt-tRNA mutations, such as the m.3243A>G mutation, exist, the majority are rare and have been reported in only a small number of ... Read more >>

Neurol Genet (Neurology. Genetics)
[2016, 2(4):e82]

Cited: 2 times

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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, Philip G Murray, Siobhan O'Sullivan, Gary Doherty, Julian P H Shield, Iain P Hargreaves, Ardeshir A Monavari, Ina Knerr, Peter McCarthy, Andrew A M Morris, David R Thorburn, Holger Prokisch, Peter E Clayton, Robert McFarland, Joanne Hughes, Ellen Crushell, Robert W Taylor,

BACKGROUND:Isolated Complex I deficiency is the most common paediatric mitochondrial disease presentation, associated with poor prognosis and high mortality. Complex I comprises 44 structural subunits with at least 10 ancillary proteins; mutations in 29 of these have so far been associated with mitochondrial disease but there are limited genotype-phenotype correlations ... Read more >>

J. Med. Genet. (Journal of medical genetics)
[2016, 53(9):634-641]

Cited: 5 times

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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, Langping He, Ana Fernández-Marmiesse, Lourdes Palacios, Cristina Jou, Cecilia Jiménez-Mallebrera, Judith Armstrong, Raquel Montero, Rafael Artuch, Christin Tischner, Tina Wenz, Robert McFarland, Robert W Taylor,

[This corrects the article on p. 102 in vol. 6, PMID: 25852744.]. ... Read more >>

Front Genet (Frontiers in genetics)
[2015, 6:254]

Cited: 2 times

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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, William C Wilson, Charlotte L Alston, Langping He, Erik Aznauryan, Ruth M Brown, Garry K Brown, Andrew A M Morris, Helen Mundy, Alex Broomfield, Ines A Barbosa, Michael A Simpson, Charu Deshpande, Dorothea Moeslinger, Johannes Koch, Georg M Stettner, Penelope E Bonnen, Holger Prokisch, Robert N Lightowlers, Robert McFarland, Zofia M A Chrzanowska-Lightowlers, Robert W Taylor,

Mitochondrial Complex IV [cytochrome c oxidase (COX)] deficiency is one of the most common respiratory chain defects in humans. The clinical phenotypes associated with COX deficiency include liver disease, cardiomyopathy and Leigh syndrome, a neurodegenerative disorder characterized by bilateral high signal lesions in the brainstem and basal ganglia. COX deficiency ... Read more >>

Brain (Brain : a journal of neurology)
[2015, 138(Pt 12):3503-3519]

Cited: 25 times

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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, Karen Baty, Emma L Blakely, Christian Bamberg, Stephan Zierz, Marcus Deschauer, Robert W Taylor,

Pathogenic mitochondrial DNA (mtDNA) point mutations are associated with a wide range of clinical phenotypes, often involving multiple organ systems. We report two patients with isolated myopathy owing to novel mt-tRNA(Ala) variants. Muscle biopsy revealed extensive histopathological findings including cytochrome c oxidase (COX)-deficient fibres. Pyrosequencing confirmed mtDNA heteroplasmy for both ... Read more >>

Eur. J. Hum. Genet. (European journal of human genetics : EJHG)
[2015, 23(12):1735-1738]

Cited: 4 times

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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, Gavin Falkous, Andrew G Schaefer, Aleksandar Radunovic, Saidi A Mohiddin, Matilda Ralph, Ali Alhakim, Robert W Taylor, Robert McFarland, Douglass M Turnbull, Gráinne S Gorman,

AIMS:To provide insight into the mechanism of sudden adult death syndrome (SADS) and to give new clinical guidelines for the cardiac management of patients with the most common mitochondrial DNA mutation, m.3243A>G. These studies were initiated after two young, asymptomatic adults harbouring the m.3243A>G mutation died suddenly and unexpectedly. The ... Read more >>

Eur. Heart J. (European heart journal)
[2016, 37(32):2552-2559]

Cited: 12 times

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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, Christine Makowski, Charlotte L Alston, Franz A Zimmermann, Lucia Abela, Barbara Plecko, Marianne Rohrbach, Stephanie Spranger, Sara Seneca, Boris Rolinski, Angela Hagendorff, Maja Hempel, Wolfgang Sperl, Thomas Meitinger, Joél Smet, Robert W Taylor, Rudy Van Coster, Peter Freisinger, Holger Prokisch, Tobias B Haack,

Disorders of the mitochondrial energy metabolism are clinically and genetically heterogeneous. An increasingly recognized subgroup is caused by defective mitochondrial iron-sulfur (Fe-S) cluster biosynthesis, with defects in 13 genes being linked to human disease to date. Mutations in three of them, NFU1, BOLA3, and IBA57, affect the assembly of mitochondrial ... Read more >>

Front Genet (Frontiers in genetics)
[2015, 6:123]

Cited: 25 times

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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, Langping He, Ana Fernández-Marmiesse, Lourdes Palacios, Cristina Jou, Cecilia Jiménez-Mallebrera, Judith Armstrong, Raquel Montero, Rafael Artuch, Christin Tischner, Tina Wenz, Robert McFarland, Robert W Taylor,

BACKGROUND:Mitochondrial diseases due to deficiencies in the mitochondrial oxidative phosphorylation system (OXPHOS) can be associated with nuclear genes involved in mitochondrial translation, causing heterogeneous early onset and often fatal phenotypes. CASE REPORT:The authors describe the clinical features and diagnostic workup of an infant who presented with an early onset severe ... Read more >>

Front Genet (Frontiers in genetics)
[2015, 6:102]

Cited: 6 times

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Cisplatin-induced haemolytic uraemic syndrome associated with a novel intronic mutation of CD46 treated with eculizumab.

Rodney D Gilbert, Louise K Stanley, Darren J Fowler, Elizabeth M Angus, Steven A Hardy, Timothy H Goodship,

A 2-year-old patient with a neuroblastoma developed haemolytic uraemic syndrome (HUS) following treatment with cisplatin and carboplatin. Following treatment with eculizumab, there was a substantial improvement in renal function with the recovery of the platelet count and the cessation of haemolysis. Subsequent investigations showed a novel, heterozygous CD46 splice site ... Read more >>

Clin Kidney J (Clinical Kidney Journal)
[2013, 6(4):421-425]

Cited: 9 times

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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, Judith Hudson, Hannah R Elliott, Aravind V Ramesh, Aleksandar Radunovic, John B Winer, Sujit Vaidya, Ashok Raman, Mark Busby, Maria E Farrugia, Alec Ming, Chris Everett, Hedley C A Emsley, Rita Horvath, Volker Straub, Kate Bushby, Hanns Lochmüller, Patrick F Chinnery, Anna Sarkozy,

OBJECTIVE:Titin gene (TTN) mutations have been described in eight families with hereditary myopathy with early respiratory failure (HMERF). Some of the original patients had features resembling myofibrillar myopathy (MFM), arguing that TTN mutations could be a much more common cause of inherited muscle disease, especially in presence of early respiratory ... Read more >>

J. Neurol. Neurosurg. Psychiatry (Journal of neurology, neurosurgery, and psychiatry)
[2014, 85(3):331-338]

Cited: 34 times

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Role of mesenchymal stem cells in neurogenesis and nervous system repair.

Daniel J Maltman, Steven A Hardy, Stefan A Przyborski,

Bone marrow-derived mesenchymal stem cells (MSCs) are attractive candidates for use in regenerative medicine since they are easily accessible and can be readily expanded in vivo, and possess unique immunogenic properties. Moreover, these multipotent cells display intriguing environmental adaptability and secretory capacity. The ability of MSCs to migrate and engraft ... Read more >>

Neurochem. Int. (Neurochemistry international)
[2011, 59(3):347-356]

Cited: 72 times

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Mesenchymal stem cells as mediators of neural differentiation.

Steven A Hardy, Daniel J Maltman, Stefan A Przyborski,

Mesenchymal stem cells (MSCs) represent a promising source of material for autologous cell transplantation therapies, in particular, their potential use for the treatment of damaged nervous tissue. Much of the work in this area has focused on the transplantation of MSCs into animal models of neurological disorders, including stroke and ... Read more >>

Curr Stem Cell Res Ther (Current stem cell research & therapy)
[2008, 3(1):43-52]

Cited: 53 times

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