Mantle, D, Dewsbury, MR and Hargreaves, IP (2024) The Ubiquinone-Ubiquinol Redox Cycle and Its Clinical Consequences: An Overview. International Journal of Molecular Sciences, 25 (12). ISSN 1661-6596

Millichap, LE, Turton, N, Damiani, E, Marcheggiani, F, Orlando, P, Silvestri, S, Tiano, L and Hargreaves, IP (2024) The Effect of Neuronal CoQ10 Deficiency and Mitochondrial Dysfunction on a Rotenone-Induced Neuronal Cell Model of Parkinson’s Disease. International Journal of Molecular Sciences, 25 (12). ISSN 1661-6596

Mantle, D and Hargreaves, IP (2024) Efficacy and Safety of Coenzyme Q10 Supplementation in Neonates, Infants and Children: An Overview. Antioxidants, 13 (5). p. 530. ISSN 2076-3921

Mantle, D and Hargreaves, IP (2024) Coenzyme Q10 and Autoimmune Disorders: An Overview. International Journal of Molecular Sciences, 25 (8). pp. 1-17. ISSN 1661-6596

Dewsbury, MR, Hargreaves, IP, Morgan, HM and Stepien, KM (2024) Molecular basis of neurocognitive dysfunction and psychosis in Alpha-Mannosidosis. Journal of Translational Genetics and Genomics, 8 (2). pp. 85-101.

Bell, G, Thoma, A, Hargreaves, IP and Lightfoot, AP (2024) The Role of Mitochondria in Statin‑Induced Myopathy. Drug Safety. ISSN 0114-5916

Mantle, D, Hargreaves, IP, Domingo, JC and Castro-Marrero, J (2024) Mitochondrial Dysfunction and Coenzyme Q10 Supplementation in Post-Viral Fatigue Syndrome: An Overview. International Journal of Molecular Sciences, 25 (1). p. 574. ISSN 1422-0067

Mantle, D, Millichap, LE, Castro-Marrero, J and Hargreaves, IP (2023) Primary Coenzyme Q10 Deficiency: An Update. Antioxidants, 12 (8). p. 1652. ISSN 2076-3921

Mantle, D and Hargreaves, IP (2023) Coenzyme Q10 and Endocrine Disorders: An Overview. Antioxidants (Basel), 12 (2). ISSN 2076-3921

Mantle, D, Lopez-Lluch, G and Hargreaves, IP (2023) Coenzyme Q10 Metabolism: A Review of Unresolved Issues. International Journal of Molecular Sciences, 24 (3). ISSN 1661-6596

Mantle, D, Turton, N and Hargreaves, IP (2022) Depletion and Supplementation of Coenzyme Q10 in Secondary Deficiency Disorders. Frontiers in Bioscience-Landmark, 27 (12). p. 322. ISSN 2768-6701

Mantle, D and Hargreaves, IP (2022) Coenzyme Q10: Role in Less Common Age-Related Disorders. Antioxidants, 11 (11).

Lund, M, Heaton, R, Hargreaves, IP, Gregersen, N and Olsen, RKJ (2022) Odd- and even-numbered medium-chained fatty acids protect against glutathione depletion in very long-chain acyl-CoA dehydrogenase deficiency. Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, 1868 (2). ISSN 1388-1981

Jurkute, N, Cancellieri, F, Pohl, L, Li, CHZ, Heaton, R, Reurink, J, Bellingham, J, Quinodoz, M, Yioti, G, Stefaniotou, M, Weener, M, Zuleger, T, Haack, TB, Stingl, K, Hoyng, CB, Mahroo, OA, Hargreaves, IP, Raymond, FL, Michaelides, M, Rivolta, C et al, Kohl, S, Roosing, S, Webster, AR and Arno, G (2022) Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype. Genomic Medicine, 7. ISSN 1871-7934

Mantle, D and Hargreaves, IP (2022) Mitochondrial Dysfunction and Neurodegenerative Disorders: Role of Nutritional Supplementation. International Journal of Molecular Sciences, 23 (20).

Stepien, KM, Cufflin, N, Donald, A, Jones, S, Church, H and Hargreaves, IP (2022) Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies. International Journal of Molecular Sciences, 23 (18). p. 10573. ISSN 1661-6596

Toomey, CE, Heywood, WE, Evans, JR, Lachica, J, Pressey, SN, Foti, SC, Al Shahrani, M, D’Sa, K, Hargreaves, IP, Heales, S, Orford, M, Troakes, C, Attems, J, Gelpi, E, Palkovits, M, Lashley, T, Gentleman, SM, Revesz, T, Mills, K and Gandhi, S (2022) Mitochondrial dysfunction is a key pathological driver of early stage Parkinson’s. Acta Neuropathologica ommunications, 10. pp. 1-25.

Turton, N, Cufflin, N, Dewsbury, M, Fitzpatrick, O, Islam, R, Linares Watler, L, McPartland, C, Whitelaw, S, Connor, C, Morris, C, Fang, J, Gartland, O, Holt, L and Hargreaves, IP (2022) The Biochemical Assessment of Mitochondrial Respiratory Chain Disorders. International Journal of Molecular Sciences, 23 (13). ISSN 1661-6596

Mantle, D, Turton, N and Hargreaves, IP (2022) Multiple System Atrophy: Role Of Coenzyme Q10. Journal of Clinical and Medical Research, 4 (2). pp. 1-7.

Mantle, D, Turton, N and Hargreaves, IP (2022) Lyme Disease: A Role for Coenzyme Q10 Supplementation? Antioxidants, 11 (4). ISSN 2076-3921

Mantle, D, Heaton, RA and Hargreaves, IP (2021) Coenzyme Q10, Ageing and the Nervous System: An Overview. Antioxidants, 11 (1). ISSN 2076-3921

Millichap, LE, Damiani, E, Tiano, L and Hargreaves, IP (2021) Targetable Pathways for Alleviating Mitochondrial Dysfunction in Neurodegeneration of Metabolic and Non-Metabolic Diseases. International Journal of Molecular Sciences, 22 (21). ISSN 1661-6596

Mennitti, LV, Carpenter, AAM, Loche, E, Pantaleão, LC, Fernandez-Twinn, DS, Schoonejans, JM, Blackmore, HL, Ashmore, TJ, Pisani, LP, Tadross, JA, Hargreaves, IP and Ozanne, SE (2021) Effects of maternal diet-induced obesity on metabolic disorders and age-associated miRNA expression in the liver of male mouse offspring. International Journal of Obesity. ISSN 1476-5497

Hufnagel, A, Fernandez‐Twinn, DS, Blackmore, HL, Ashmore, TJ, Heaton, RA, Jenkins, B, Koulman, A, Hargreaves, IP, Aiken, CE and Ozanne, SE (2021) Maternal but not fetoplacental health can be improved by metformin in a murine diet‐induced model of maternal obesity and glucose intolerance. The Journal of Physiology. ISSN 0022-3751

Cirilli, I, Damiani, E, Dludla, PV, Hargreaves, IP, Marcheggiani, F, Millichap, LE, Orlando, P, Silvestri, S and Tiano, L (2021) Role of Coenzyme Q10 in Health and Disease: An Update on the Last 10 Years (2010–2020). Antioxidants, 10 (8). ISSN 2076-3921

Hargreaves, IP and Mantle, D (2021) COVID-19, Coenzyme Q10 and Selenium. In: Identification of Biomarkers, New Treatments, and Vaccines for COVID-19. Advances in Experimental Medicine and Biology, 1327 . Springer, pp. 161-168. ISBN 978-3-030-71696-7

Turton, N, Bowers, N, Khajeh, S, Hargreaves, IP and Heaton, RA (2021) Coenzyme Q10 and the exclusive club of diseases that show a limited response to treatment. Expert Opinion on Orphan Drugs. ISSN 2167-8707

Mantle, D, Heaton, R and Hargreaves, IP (2021) Coenzyme Q10 and Immune Function: An Overview. Antioxidants, 10 (5). ISSN 2076-3921

Hargreaves, IP and Mantle, D (2021) Targeted Treatment of Age-Related Fibromyalgia with Supplemental Coenzyme Q10. In: Reviews on New Drug Targets in Age-Related Disorders. Advances in Experimental Medicine and Biology, 1286 . Springer Verlag.

Porter, KMF, Hargreaves, IP, De Souza, S and Goddard, R (2021) Treatment with the direct oral anticoagulants (DOACs) apixaban and rivaroxaban associated with significant worsening of behavioural and psychological symptoms of dementia (BPSD). BMJ Case Reports, 14 (3). ISSN 1757-790X

Lund, M, Andersen, KG, Heaton, R, Hargreaves, IP, Gregersen, N and Olsen, RKJ (2021) Bezafibrate activation of PPAR drives disturbances in mitochondrial redox bioenergetics and decreases the viability of cells from patients with VLCAD deficiency. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. ISSN 0925-4439

Maguire, A, Mooney, C, Flynn, G, Ferguson, Y, O'Keane, V, O'Rourke, D, McMonagle, T, Heaton, R, Phillips, S, Hargreaves, IP, Gill, M and Hargreaves, A (2021) No Effect of Coenzyme Q10 on Cognitive Function, Psychological Symptoms, and Health-related Outcomes in Schizophrenia and Schizoaffective Disorder. Journal of Clinical Psychopharmacology, 41 (1). pp. 53-57. ISSN 0271-0749

Turton, N, Rutherford, T, Thijssen, DHJ and Hargreaves, IP (2020) Putative adjunct therapies to target mitochondrial dysfunction and oxidative stress in phenylketonuria, lysosomal storage disorders and peroxisomal disorders. Expert Opinion on Orphan Drugs, 8 (11). pp. 431-444. ISSN 2167-8707

Ruiz, AJ, Tibary, A, Heaton, R, Hargreaves, IP, Leadon, DP and Bayly, WM (2020) Effects of Feeding Coenzyme Q10-Ubiquinol on Plasma Coenzyme Q10 Concentrations and Semen Quality in Stallions. Journal of Equine Veterinary Science, 96. ISSN 0737-0806

Wainwright, L, Hargreaves, IP, Georgian, AR, Turner, C, Dalton, RN, Abbott, NJ, Heales, SJR and Preston, JE (2020) CoQ10 Deficient Endothelial Cell Culture Model for the Investigation of CoQ10 Blood–Brain Barrier Transport. Journal of Clinical Medicine, 9 (10). ISSN 2077-0383

Hargreaves, IP, Heaton, RA and Mantle, D (2020) Disorders of Human Coenzyme Q10 Metabolism: An Overview. International Journal of Molecular Sciences, 21 (18). ISSN 1661-6596

Stepien, KM, Roncaroli, F, Turton, N, Hendriksz, CJ, Roberts, M, Heaton, R and Hargreaves, IP (2020) Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: A Review. Journal of Clinical Medicine, 9 (8). ISSN 2077-0383

Heaton, R, Heales, S, Rahman, K, Sexton, DW and Hargreaves, IP (2020) The Effect of Cellular Coenzyme Q10 Deficiency on Lysosomal Acidification. Journal of Clinical Medicine, 9 (6). ISSN 2077-0383

Cotta, A, Alston, CL, Baptista-Junior, S, Paim, JF, Carvalho, E, Navarro, MM, Appleton, M, Shiau Ng, Y, Valicek, J, da-Cunha-Junior, AL, Lima, MI, de la Rocque Ferreira, A, Takata, RI, Hargreaves, IP, Gorman, GS, McFarland, R, Pierre, G and Taylor, RW (2020) Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion. JIMD Reports. ISSN 2192-8312

Turton, N, Heaton, R, Ismail, F, Roberts, S, Nelder, S, Phillips, S and Hargreaves, IP (2020) The Effect of Organophosphate Exposure on Neuronal Cell Coenzyme Q10 Status. Neurochemical Research. ISSN 0364-3190

Heaton, R, Duberley, K and Hargreaves, IP (2020) Coenzyme Q10 Assessment and the Establishment of a Neuronal Cell Model of CoQ10 Deficiency. In: guest, P, (ed.) Clinical and Preclinical Models for Maximizing Healthspan. Springer, pp. 277-287. ISBN 978-1-07-160471-7

Mantle, D and Hargreaves, IP (2020) Coenzyme Q10 supplementation in non alcoholic liver disease: an overview. Gastrointestinal Nursing, 18 (2). pp. 22-27. ISSN 1479-5248

Poole, OV, Hardy, SA, Bugiardini, E, Woodward, CE, Hargreaves, IP, Merve, A, Quinlivan, R, Taylor, RW, Hanna, MG and Pitceathly, RDS (2020) Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA Gly ( MT-TG ) variant. Neurology Genetics, 6 (2). ISSN 2376-7839

Ceresa, C, Hutton, S, Lajarin-Cuesta, M, Heaton, R, Hargreaves, IP, Fracchia, L and Diaz De Rienzo, MA (2020) Production of Mannosylerythritol Lipids (MELs) to be Used as Antimicrobial Agents against S. aureus ATCC 6538. Current Microbiology, 77. pp. 1373-1380. ISSN 0343-8651

Bugiardin, E, Bottani, E, Marchet, S, Poole, OV, Beninca, C, Horga, A, Woodward, C, Lam, A, Hargreaves, IP, Chalasani, A, Valerio, A, Lamantea, E, Venner, K, Holton, JL, Zeviani, M, Houlden, H, Quinlivan, R, Lamperti, C, Hanna, MG and Pitceathly, RDS (2020) Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations. Neurology Genetics, 6 (1). ISSN 2376-7839

Horga, A, Woodward, CE, Mills, A, Pareés, I, Hargreaves, IP, Brown, RM, Bugiardini, E, Brooks, T, Manole, A, Remzova, E, Rahman, S, Reilly, MM, Houlden, H, Sweeney, MG, Brown, GK, Polke, JM, Gago, F, Parton, MJ, Pitceathly, RDS and Hanna, MG (2019) Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair. Human Genetics, 138 (11-12). pp. 1313-1322. ISSN 0340-6717

Ng, X, Sadeghian, M, Heales, S and Hargreaves, IP (2019) Assessment of Mitochondrial Dysfunction in Experimental Autoimmune Encephalomyelitis (EAE) Models of Multiple Sclerosis. International Journal of Molecular Sciences, 20 (20). ISSN 1661-6596

Keatley, K, Stromei-Cleroux, S, Wiltshire, T, Rajala, N, Burton, G, Holt, WV, Littlewood, DTJ, Briscoe, AG, Jung, J, Ashkan, K, Heales, SJ, Pilkington, GJ, Meunier, B, McGeehan, JE, Hargreaves, IP and McGeehan, RE (2019) Integrated Approach Reveals Role of Mitochondrial Germ-Line Mutation F18L in Respiratory Chain, Oxidative Alterations, Drug Sensitivity, and Patient Prognosis in Glioblastoma. International Journal of Molecular Sciences, 20 (13). ISSN 1661-6596

Heaton, R, Millichap, L, Saleem, F, Gannon, J, Begum, G and Hargreaves, IP (2019) Current biochemical treatments of mitochondrial respiratory chain disorders. Expert Opinion on Orphan Drugs, 7 (6). pp. 277-285. ISSN 2167-8707

Bugiardini, E, Mitchell, AL, Rosa, ID, Horning-Do, H-T, Pitmann, AM, Poole, OV, Holton, JL, Shah, S, Woodward, C, Hargreaves, IP, Quinlivan, R, Amunts, A, Wiesner, RJ, Houlden, H, Holt, IJ, Hanna, MG, Pitceathly, RDS and Spinazzola, A (2019) MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy. Human Molecular Genetics. ISSN 0964-6906

Foti, SC, Hargreaves, IP, Carrington, S, Kiely, AP, Houlden, H and Holton, JL (2019) Cerebral mitochondrial electron transport chain dysfunction in multiple system atrophy and Parkinson's disease. Scientific Reports, 9 (1). ISSN 2045-2322

Horga, A, Bugiardini, E, Manole, A, Bremner, F, Jaunmuktane, Z, Dankwa, L, Rebelo, AP, Woodward, CE, Hargreaves, IP, Cortese, A, Pittman, AM, Brandner, S, Polke, JM, Pitceathly, RDS, Züchner, S, Hanna, MG, Scherer, SS, Houlden, H and Reilly, MM (2019) Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy. Neurology Genetics, 5 (2). ISSN 2376-7839

Hargreaves, IP, Mantle, D and Milford, D (2019) Chronic kidney disease and coenzyme Q10 supplementation. Journal of Kidney Care, 4 (2). pp. 82-90. ISSN 2397-9534

Mantle, D and Hargreaves, IP (2019) Coenzyme Q10 and Degenerative Disorders Affecting Longevity: An Overview. Antioxidants, 8 (2). ISSN 2076-3921

Montero, R, Yubero, D, Salgado, MC, González, MJ, Campistol, J, O'Callaghan, MDM, Pineda, M, Delgadillo, V, Maynou, J, Fernandez, G, Montoya, J, Ruiz-Pesini, E, Meavilla, S, Neergheen, V, García-Cazorla, A, Navas, P, Hargreaves, IP and Artuch, R (2019) Plasma coenzyme Q10 status is impaired in selected genetic conditions. Scientific Reports, 9 (1). ISSN 2045-2322

Hargreaves, IP and Mantle, D (2018) Vitamin K2 supplementation in haemodialysis patients. Journal of Kidney Care, 3 (6). ISSN 2397-9534

Hargreaves, IP (2018) Biochemical Assessment and Monitoring of Mitochondrial Disease. Journal of Clinical Medicine, 7 (4). ISSN 2077-0383

Hargreaves, IP, Mody, N, Land, J and Heales, S (2018) Blood Mononuclear Cell Mitochondrial Respiratory Chain Complex IV Activity is Decreased in Multiple Sclerosis Patients: Effects of beta-Interferon Treatment. Journal of Clinical Medicine, 7 (2). ISSN 2077-0383

Ahmed, ST, Alston, CL, Hopton, S, He, L, Hargreaves, IP, Falkous, G, Olahova, M, McFarland, R, Turnbull, DM, Rocha, MC and Taylor, RW (2017) Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency. Scientific Reports, 7. ISSN 2045-2322

Al Shahrani, M, Heales, S, Hargreaves, IP and Orford, M (2017) Oxidative Stress: Mechanistic Insights into Inherited Mitochondrial Disorders and Parkinson's Disease. Journal of Clinical Medicine, 6 (11). ISSN 2077-0383

Manole, A, Jaunmuktane, Z, Hargreaves, IP, Ludtmann, MHR, Salpietro, V, Bello, OD, Pope, S, Pandraud, A, Horga, A, Scalco, RS, Li, A, Ashokkumar, B, Lourenco, CM, Heales, S, Horvath, R, Chinnery, PF, Toro, C, Singleton, AB, Jacques, TS, Abramov, AY et al, Muntoni, F, Hanna, MG, Reilly, MM, Revesz, T, Kullmann, DM, Jepson, JEC and Houlden, H (2017) Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. Brain, 140 (11). pp. 2820-2837. ISSN 1460-2156

Ghose, A, Taylor, C, Howie, A, Chalasani, A, Hargreaves, IP and Milford, D (2017) Measurement of Respiratory Chain Enzyme Activity in Human Renal Biopsy Specimens. Journal of Clinical Medicine, 6 (9). ISSN 2077-0383

Stepien, KM, Heaton, R, Rankin, S, Murphy, A, Bentley, J, Sexton, DW and Hargreaves, IP (2017) Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders. Journal of Clinical Medicine, 6 (7). ISSN 2077-0383

Dyson, A, Dal-Pizzol, F, Sabbatini, G, Lach, AB, Galfo, F, dos Santos Cardoso, J, Pescador Mendonça, B, Hargreaves, IP, Bollen Pinto, B, Bromage, DI, Martin, JF, Moore, KP, Feelisch, M and Singer, M (2017) Ammonium tetrathiomolybdate following ischemia/reperfusion injury: Chemistry, pharmacology, and impact of a new class of sulfide donor in preclinical injury models. PLoS Medicine, 14 (7). ISSN 1549-1676

Neergheen, V, Chalasani, A, Wainwright, L, Yubero, D, Montero, R, Artuch, R and Hargreaves, IP (2017) Coenzyme Q10 in the treatment of mitochondrial disease. Journal of Inborn Errors of Metabolism and Screening. ISSN 2326-4098

Bugiardini, E, Poole, OV, Manole, A, Pittman, AM, Horga, A, Hargreaves, IP, Woodward, CE, Sweeney, MG, Holton, JL, Taanman, J-W, Plant, GT, Poulton, J, Zeviani, M, Ghezzi, D, Taylor, J, Smith, C, Fratter, C, Kanikannan, MA, Paramasivam, A, Thangaraj, K et al, Spinazzola, A, Holt, IJ, Houlden, H, Hanna, MG and Pitceathly, RD (2017) Clinicopathologic and molecular spectrum of RNASEH1 -related mitochondrial disease. Neurology Genetics, 3 (3). ISSN 2376-7839

Cornelius, N, Wardman, JH, Hargreaves, IP, Neergheen, V, Bie, AS, Tümer, Z, Nielsen, JE and Nielsen, TT (2017) Evidence of oxidative stress and mitochondrial dysfunction in spinocerebellar ataxia type 2 (SCA2) patient fibroblasts: Effect of coenzyme Q10 supplementation on these parameters. Mitochondrion, 34. pp. 103-114. ISSN 1567-7249

McKiernan, P, Ball, S, Santra, S, Foster, K, Fratter, C, Poulton, J, Craig, K, McFarland, R, Rahman, S, Hargreaves, IP, Gupte, G, Sharif, K and Taylor, RW (2016) Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure. Journal of Pediatric Gastroenterology and Nutrition, 63 (6). pp. 592-597. ISSN 0277-2116

Sadeghian, M, Mastrolia, V, Rezaei Haddad, A, Mosley, A, Mullali, G, Schiza, D, Sajic, M, Hargreaves, IP, Heales, S, Duchen, MR and Smith, KJ (2016) Mitochondrial dysfunction is an important cause of neurological deficits in an inflammatory model of multiple sclerosis. Scientific Reports, 6 (1). ISSN 2045-2322

Tarry-Adkins, JL, Fernandez-Twinn, DS, Chen, JH, Hargreaves, IP, Neergheen, V, Aiken, CE and Ozanne, SE (2016) Poor maternal nutrition and accelerated postnatal growth induces an accelerated aging phenotype and oxidative stress in skeletal muscle of male rats. Disease Models and Mechanisms, 9 (10). pp. 1221-1229. ISSN 1754-8403

Abeti, R, Parkinson, MH, Hargreaves, IP, Angelova, PR, Sandi, C, Pook, MA, Giunti, P and Abramov, AY (2016) 'Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich's ataxia'. Cell Death and Disease, 7. ISSN 2041-4889

Dombi, E, Diot, A, Morten, K, Carver, J, Lodge, T, Fratter, C, Ng, YS, Liao, C, Muir, R, Blakely, EL, Hargreaves, IP, Al-Dosary, M, Sarkar, G, Hickman, SJ, Downes, SM, Jayawant, S, Yu-Wai-Man, P, Taylor, RW and Poulton, J (2016) The m.13051G > A mitochondrial DNA mutation results in variable neurology and activated mitophagy. Neurology, 86 (20). pp. 1921-1923. ISSN 0028-3878

Alston, CL, Howard, C, Olahova, M, Hardy, SA, He, L, Murray, PG, O'Sullivan, S, Doherty, G, Shield, JPH, Hargreaves, IP, Monavari, AA, Knerr, I, McCarthy, P, Morris, AAM, Thorburn, DR, Prokisch, H, Clayton, PE, McFarland, R, Hughes, J, Crushell, E et al and Taylor, RW (2016) A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. Journal of Medical Genetics (JMG), 53 (9). pp. 634-641. ISSN 0022-2593

Schottlaender, LV, Bettencourt, C, Kiely, AP, Chalasani, A, Neergheen, V, Holton, JL, Hargreaves, IP and Houlden, H (2016) Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients. PLoS One, 11 (2). ISSN 1932-6203

Tarry-Adkins, JL, Fernandez-Twinn, DS, Hargreaves, IP, Neergheen, V, Aiken, CE, Martin-Gronert, MS, McConnell, JM and Ozanne, SE (2015) Coenzyme am prevents hepatic fibrosis, inflammation, and oxidative stress in a male rat model of poor maternal nutrition and accelerated postnatal growth. American Journal of Clinical Nutrition (AJCN), 103 (2). pp. 579-588. ISSN 0002-9165

Lax, NZ, Alston, CL, Schon, K, Park, S-M, Krishnakumar, D, He, L, Falkous, G, Ogilvy-Stuart, A, Lees, C, King, RH, Hargreaves, IP, Brown, GK, McFarland, R, Dean, AF and Taylor, RW (2015) Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations. Journal of Neuropathology and Experimental Neurology, 74 (7). pp. 688-703. ISSN 0022-3069

Alston, CL, Ceccatelli Berti, C, Blakely, EL, Olahova, M, He, L, McMahon, CJ, Olpin, SE, Hargreaves, IP, Nolli, C, McFarland, R, Goffrini, P, O'Sullivan, MJ and Taylor, RW (2015) A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. Human Genetics, 134 (8). pp. 869-879. ISSN 0340-6717

Balreira, A, Boczonadi, V, Barca, E, Pyle, A, Bansagi, B, Appleton, M, Graham, C, Hargreaves, IP, Rasic, VM, Lochmueller, H, Griffin, H, Taylor, RW, Naini, A, Chinnery, PF, Hirano, M, Quinzii, CM and Horvath, R (2014) ANO10 mutations cause ataxia and coenzyme Q(10) deficiency. Journal of Neurology, 261 (11). pp. 2192-2198. ISSN 0340-5354

Ferdinandusse, S, Waterham, HR, Heales, SJR, Brown, GK, Hargreaves, IP, Taanman, J-W, Gunny, R, Abulhoul, L, Wanders, RJA, Clayton, PT, Leonard, JV and Rahman, S (2013) HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. Orphanet Journal of Rare Diseases, 188. ISSN 1750-1172

Foley, AR, Menezes, MP, Pandraud, A, Gonzalez, MA, Al-Odaib, A, Abrams, AJ, Sugano, K, Yonezawa, A, Manzur, AY, Burns, J, Hughes, I, McCullagh, BG, Jungbluth, H, Lim, MJ, Lin, J-P, Megarbane, A, Urtizberea, JA, Shah, AH, Antony, J, Webster, R et al, Broomfield, A, Ng, J, Mathew, AA, O'Byrne, JJ, Forman, E, Scoto, M, Prasad, M, O'Brien, K, Olpin, S, Oppenheim, M, Hargreaves, IP, Land, JM, Wang, MX, Carpenter, K, Horvath, R, Straub, V, Lek, M, Gold, W, Farrell, MO, Brandner, S, Phadke, R, Matsubara, K, McGarvey, ML, Scherer, SS, Baxter, PS, King, MD, Clayton, P, Rahman, S, Reilly, MM, Ouvrier, RA, Christodoulou, J, Zuechner, S, Muntoni, F and Houlden, H (2013) Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain, 137 (1). pp. 44-56. ISSN 1460-2156

Liu, Y-T, Hersheson, J, Plagnol, V, Fawcett, K, Duberley, KEC, Preza, E, Hargreaves, IP, Chalasani, A, Laura, M, Wood, NW, Reilly, MM and Houlden, H (2013) Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation. Journal of Neurology, Neurosurgery and Psychiatry (JNNP), 85 (5). pp. 493-498. ISSN 0022-3050

Tucci, A, Liu, Y-T, Preza, E, Pitceathly, RDS, Chalasani, A, Plagnol, V, Land, JM, Trabzuni, D, Ryten, M, Jaunmuktane, Z, Reilly, MM, Brandner, S, Hargreaves, IP, Hardy, J, Singleton, AB, Abramov, AY and Houlden, H (2013) Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. Journal of Neurology, Neurosurgery and Psychiatry (JNNP), 85 (5). pp. 486-492. ISSN 0022-3050

Holmstrom, KM, Baird, L, Zhang, Y, Hargreaves, IP, Chalasani, A, Land, JM, Stanyer, L, Yamamoto, M, Dinkova-Kostova, AT and Abramov, AY (2013) Nrf2 impacts cellular bioenergetics by controlling substrate availability for mitochondrial respiration. Biology Open, 2 (8). pp. 761-770. ISSN 2046-6390

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