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Items: 1 to 50 of 150

1.

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.

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, Reilly MM.

Neurol Genet. 2019 Apr 1;5(2):e322. doi: 10.1212/NXG.0000000000000322. eCollection 2019 Apr.

2.

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.

Bugiardini E, Mitchell AL, Rosa ID, Horning-Do HT, Pitmann A, Poole OV, Holton JL, Shah S, Woodward C, Hargreaves I, Quinlivan R, Amunts A, Wiesner RJ, Houlden H, Holt IJ, Hanna MG, Pitceathly RDS, Spinazzola A.

Hum Mol Genet. 2019 Apr 30. pii: ddz093. doi: 10.1093/hmg/ddz093. [Epub ahead of print]

PMID:
31039582
3.

Cerebral mitochondrial electron transport chain dysfunction in multiple system atrophy and Parkinson's disease.

Foti SC, Hargreaves I, Carrington S, Kiely AP, Houlden H, Holton JL.

Sci Rep. 2019 Apr 25;9(1):6559. doi: 10.1038/s41598-019-42902-7.

4.

Coenzyme Q10 and Degenerative Disorders Affecting Longevity: An Overview.

Mantle D, Hargreaves I.

Antioxidants (Basel). 2019 Feb 16;8(2). pii: E44. doi: 10.3390/antiox8020044. Review.

5.

Plasma coenzyme Q10 status is impaired in selected genetic conditions.

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 I, Artuch R.

Sci Rep. 2019 Jan 28;9(1):793. doi: 10.1038/s41598-018-37542-2.

6.

Biochemical Assessment and Monitoring of Mitochondrial Disease.

Hargreaves IP.

J Clin Med. 2018 Mar 29;7(4). pii: E66. doi: 10.3390/jcm7040066.

7.
8.

Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.

Ahmed ST, Alston CL, Hopton S, He L, Hargreaves IP, Falkous G, Oláhová M, McFarland R, Turnbull DM, Rocha MC, Taylor RW.

Sci Rep. 2017 Nov 15;7(1):15676. doi: 10.1038/s41598-017-14623-2.

9.

Oxidative Stress: Mechanistic Insights into Inherited Mitochondrial Disorders and Parkinson's Disease.

Al Shahrani M, Heales S, Hargreaves I, Orford M.

J Clin Med. 2017 Oct 27;6(11). pii: E100. doi: 10.3390/jcm6110100. Review.

10.

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.

Manole A, Jaunmuktane Z, Hargreaves I, Ludtmann MHR, Salpietro V, Bello OD, Pope S, Pandraud A, Horga A, Scalco RS, Li A, Ashokkumar B, Lourenço CM, Heales S, Horvath R, Chinnery PF, Toro C, Singleton AB, Jacques TS, Abramov AY, Muntoni F, Hanna MG, Reilly MM, Revesz T, Kullmann DM, Jepson JEC, Houlden H.

Brain. 2017 Nov 1;140(11):2820-2837. doi: 10.1093/brain/awx231.

11.

Measurement of Respiratory Chain Enzyme Activity in Human Renal Biopsy Specimens.

Ghose A, Taylor CM, Howie AJ, Chalasani A, Hargreaves I, Milford DV.

J Clin Med. 2017 Sep 19;6(9). pii: E90. doi: 10.3390/jcm6090090.

12.

Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders.

Stepien KM, Heaton R, Rankin S, Murphy A, Bentley J, Sexton D, Hargreaves IP.

J Clin Med. 2017 Jul 19;6(7). pii: E71. doi: 10.3390/jcm6070071. Review.

13.

Ammonium tetrathiomolybdate following ischemia/reperfusion injury: Chemistry, pharmacology, and impact of a new class of sulfide donor in preclinical injury models.

Dyson A, Dal-Pizzol F, Sabbatini G, Lach AB, Galfo F, Dos Santos Cardoso J, Pescador Mendonça B, Hargreaves I, Bollen Pinto B, Bromage DI, Martin JF, Moore KP, Feelisch M, Singer M.

PLoS Med. 2017 Jul 5;14(7):e1002310. doi: 10.1371/journal.pmed.1002310. eCollection 2017 Jul.

14.

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease.

Bugiardini E, Poole OV, Manole A, Pittman AM, Horga A, Hargreaves I, Woodward CE, Sweeney MG, Holton JL, Taanman JW, Plant GT, Poulton J, Zeviani M, Ghezzi D, Taylor J, Smith C, Fratter C, Kanikannan MA, Paramasivam A, Thangaraj K, Spinazzola A, Holt IJ, Houlden H, Hanna MG, Pitceathly RDS.

Neurol Genet. 2017 May 2;3(3):e149. doi: 10.1212/NXG.0000000000000149. eCollection 2017 Jun.

15.

Evidence of oxidative stress and mitochondrial dysfunction in spinocerebellar ataxia type 2 (SCA2) patient fibroblasts: Effect of coenzyme Q10 supplementation on these parameters.

Cornelius N, Wardman JH, Hargreaves IP, Neergheen V, Bie AS, Tümer Z, Nielsen JE, Nielsen TT.

Mitochondrion. 2017 May;34:103-114. doi: 10.1016/j.mito.2017.03.001. Epub 2017 Mar 3.

PMID:
28263872
16.

Simvastatin pre-treatment improves survival and mitochondrial function in a 3-day fluid-resuscitated rat model of sepsis.

Morel J, Hargreaves I, Brealey D, Neergheen V, Backman JT, Lindig S, Bläss M, Bauer M, McAuley DF, Singer M.

Clin Sci (Lond). 2017 Apr 25;131(8):747-758. doi: 10.1042/CS20160802. Epub 2017 Feb 15.

PMID:
28202686
17.

Testing the Limits of Skill Transfer for Scrabble Experts in Behavior and Brain.

van Hees S, Pexman PM, Hargreaves IS, Zdrazilova L, Hart JM, Myers-Stewart K, Cortese F, Protzner AB.

Front Hum Neurosci. 2016 Nov 9;10:564. eCollection 2016.

18.

Mitochondrial dysfunction is an important cause of neurological deficits in an inflammatory model of multiple sclerosis.

Sadeghian M, Mastrolia V, Rezaei Haddad A, Mosley A, Mullali G, Schiza D, Sajic M, Hargreaves I, Heales S, Duchen MR, Smith KJ.

Sci Rep. 2016 Sep 14;6:33249. doi: 10.1038/srep33249.

19.

Poor maternal nutrition and accelerated postnatal growth induces an accelerated aging phenotype and oxidative stress in skeletal muscle of male rats.

Tarry-Adkins JL, Fernandez-Twinn DS, Chen JH, Hargreaves IP, Neergheen V, Aiken CE, Ozanne SE.

Dis Model Mech. 2016 Oct 1;9(10):1221-1229. Epub 2016 Sep 1.

20.

Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure.

McKiernan P, Ball S, Santra S, Foster K, Fratter C, Poulton J, Craig K, McFarland R, Rahman S, Hargreaves I, Gupte G, Sharif K, Taylor RW.

J Pediatr Gastroenterol Nutr. 2016 Dec;63(6):592-597.

21.

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

Yubero D, Montero R, Martín MA, Montoya J, Ribes A, Grazina M, Trevisson E, Rodriguez-Aguilera JC, Hargreaves IP, Salviati L, Navas P, Artuch R; CoQ deficiency study group, Jou C, Jimenez-Mallebrera C, Nascimento A, Pérez-Dueñas B, Ortez C, Ramos F, Colomer J, O'Callaghan M, Pineda M, García-Cazorla A, Espinós C, Ruiz A, Macaya A, Marcé-Grau A, Garcia-Villoria J, Arias A, Emperador S, Ruiz-Pesini E, Lopez-Gallardo E, Neergheen V, Simões M, Diogo L, Blázquez A, González-Quintana A, Delmiro A, Domínguez-González C, Arenas J, García-Silva MT, Martín E, Quijada P, Hernández-Laín A, Morán M, Rivas Infante E, Ávila Polo R, Paradas Lópe C, Bautista Lorite J, Martínez Fernández EM, Cortés AB, Sánchez-Cuesta A, Cascajo MV, Alcázar M, Brea-Calvo G.

Mitochondrion. 2016 Sep;30:51-8. doi: 10.1016/j.mito.2016.06.007. Epub 2016 Jun 30.

PMID:
27374853
22.

'Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich's ataxia'.

Abeti R, Parkinson MH, Hargreaves IP, Angelova PR, Sandi C, Pook MA, Giunti P, Abramov AY.

Cell Death Dis. 2016 May 26;7:e2237. doi: 10.1038/cddis.2016.111.

23.

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.

Dombi E, Diot A, Morten K, Carver J, Lodge T, Fratter C, Ng YS, Liao C, Muir R, Blakely EL, Hargreaves I, Al-Dosary M, Sarkar G, Hickman SJ, Downes SM, Jayawant S, Yu-Wai-Man P, Taylor RW, Poulton J.

Neurology. 2016 May 17;86(20):1921-3. doi: 10.1212/WNL.0000000000002688. Epub 2016 Apr 22. No abstract available.

24.

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.

Alston CL, Howard C, Oláhová M, Hardy SA, He L, Murray PG, O'Sullivan S, Doherty G, Shield JP, Hargreaves IP, Monavari AA, Knerr I, McCarthy P, Morris AA, Thorburn DR, Prokisch H, Clayton PE, McFarland R, Hughes J, Crushell E, Taylor RW.

J Med Genet. 2016 Sep;53(9):634-41. doi: 10.1136/jmedgenet-2015-103576. Epub 2016 Apr 18.

25.

Drug-Induced Mitochondrial Toxicity.

Hargreaves IP, Al Shahrani M, Wainwright L, Heales SJ.

Drug Saf. 2016 Jul;39(7):661-74. doi: 10.1007/s40264-016-0417-x. Review.

PMID:
26992920
26.

Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients.

Schottlaender LV, Bettencourt C, Kiely AP, Chalasani A, Neergheen V, Holton JL, Hargreaves I, Houlden H.

PLoS One. 2016 Feb 19;11(2):e0149557. doi: 10.1371/journal.pone.0149557. eCollection 2016.

27.

Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.

Pavlidou E, Salpietro V, Phadke R, Hargreaves IP, Batten L, McElreavy K, Pitt M, Mankad K, Wilson C, Cutrupi MC, Ruggieri M, McCormick D, Saggar A, Kinali M.

Eur J Paediatr Neurol. 2016 May;20(3):483-8. doi: 10.1016/j.ejpn.2015.12.016. Epub 2016 Jan 11.

PMID:
26805434
28.

Determination of urinary coenzyme Q10 by HPLC with electrochemical detection: Reference values for a paediatric population.

Yubero D, Montero R, Ramos M, Neergheen V, Navas P, Artuch R, Hargreaves I.

Biofactors. 2015 Nov-Dec;41(6):424-30. doi: 10.1002/biof.1242. Epub 2015 Nov 19.

PMID:
26768296
29.

Coenzyme Q10 prevents hepatic fibrosis, inflammation, and oxidative stress in a male rat model of poor maternal nutrition and accelerated postnatal growth.

Tarry-Adkins JL, Fernandez-Twinn DS, Hargreaves IP, Neergheen V, Aiken CE, Martin-Gronert MS, McConnell JM, Ozanne SE.

Am J Clin Nutr. 2016 Feb;103(2):579-88. doi: 10.3945/ajcn.115.119834. Epub 2015 Dec 30.

30.

Coenzyme Q10 Prevents Insulin Signaling Dysregulation and Inflammation Prior to Development of Insulin Resistance in Male Offspring of a Rat Model of Poor Maternal Nutrition and Accelerated Postnatal Growth.

Tarry-Adkins JL, Fernandez-Twinn DS, Madsen R, Chen JH, Carpenter A, Hargreaves IP, McConnell JM, Ozanne SE.

Endocrinology. 2015 Oct;156(10):3528-37. doi: 10.1210/en.2015-1424. Epub 2015 Jul 27.

31.

Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III.

Yubero D, Montero R, O'Callaghan M, Pineda M, Meavilla S, Delgadillo V, Sierra C, Altimira L, Navas P, Pope S, Oppenheim M, Neergheen V, Ghosh A, Mills P, Clayton P, Footitt E, Cleary M, Hargreaves I, Jones SA, Heales S, Artuch R.

JIMD Rep. 2016;25:1-7. Epub 2015 Jul 24.

32.

Can folic acid have a role in mitochondrial disorders?

Ormazabal A, Casado M, Molero-Luis M, Montoya J, Rahman S, Aylett SB, Hargreaves I, Heales S, Artuch R.

Drug Discov Today. 2015 Nov;20(11):1349-54. doi: 10.1016/j.drudis.2015.07.002. Epub 2015 Jul 14. Review.

PMID:
26183769
33.

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.

Lax NZ, Alston CL, Schon K, Park SM, Krishnakumar D, He L, Falkous G, Ogilvy-Stuart A, Lees C, King RH, Hargreaves IP, Brown GK, McFarland R, Dean AF, Taylor RW.

J Neuropathol Exp Neurol. 2015 Jul;74(7):688-703. doi: 10.1097/NEN.0000000000000209.

34.

This is your brain on Scrabble: Neural correlates of visual word recognition in competitive Scrabble players as measured during task and resting-state.

Protzner AB, Hargreaves IS, Campbell JA, Myers-Stewart K, van Hees S, Goodyear BG, Sargious P, Pexman PM.

Cortex. 2016 Feb;75:204-219. doi: 10.1016/j.cortex.2015.03.015. Epub 2015 Apr 1.

35.

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

Alston CL, Ceccatelli Berti C, Blakely EL, Oláhová M, He L, McMahon CJ, Olpin SE, Hargreaves IP, Nolli C, McFarland R, Goffrini P, O'Sullivan MJ, Taylor RW.

Hum Genet. 2015 Aug;134(8):869-79. doi: 10.1007/s00439-015-1568-z. Epub 2015 May 26.

36.

Absence of intracellular ion channels TPC1 and TPC2 leads to mature-onset obesity in male mice, due to impaired lipid availability for thermogenesis in brown adipose tissue.

Lear PV, González-Touceda D, Porteiro Couto B, Viaño P, Guymer V, Remzova E, Tunn R, Chalasani A, García-Caballero T, Hargreaves IP, Tynan PW, Christian HC, Nogueiras R, Parrington J, Diéguez C.

Endocrinology. 2015 Mar;156(3):975-86. doi: 10.1210/en.2014-1766. Epub 2014 Dec 29.

37.

Semantic classification of pictures and words.

Taikh A, Hargreaves IS, Yap MJ, Pexman PM.

Q J Exp Psychol (Hove). 2015;68(8):1502-18. doi: 10.1080/17470218.2014.975728. Epub 2014 Nov 18.

PMID:
25403693
38.

Zellweger syndrome and secondary mitochondrial myopathy.

Salpietro V, Phadke R, Saggar A, Hargreaves IP, Yates R, Fokoloros C, Mankad K, Hertecant J, Ruggieri M, McCormick D, Kinali M.

Eur J Pediatr. 2015 Apr;174(4):557-63. doi: 10.1007/s00431-014-2431-2. Epub 2014 Oct 7. Review.

PMID:
25287621
39.

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.

Balreira A, Boczonadi V, Barca E, Pyle A, Bansagi B, Appleton M, Graham C, Hargreaves IP, Rasic VM, Lochmüller H, Griffin H, Taylor RW, Naini A, Chinnery PF, Hirano M, Quinzii CM, Horvath R.

J Neurol. 2014 Nov;261(11):2192-8. doi: 10.1007/s00415-014-7476-7. Epub 2014 Sep 3.

40.

Nutritional programming of coenzyme Q: potential for prevention and intervention?

Tarry-Adkins JL, Fernandez-Twinn DS, Chen JH, Hargreaves IP, Martin-Gronert MS, McConnell JM, Ozanne SE.

FASEB J. 2014 Dec;28(12):5398-405. doi: 10.1096/fj.14-259473. Epub 2014 Aug 29.

41.

Biochemical diagnosis of coenzyme q10 deficiency.

Yubero D, Montero R, Artuch R, Land JM, Heales SJ, Hargreaves IP.

Mol Syndromol. 2014 Jul;5(3-4):147-55. doi: 10.1159/000362390.

42.

Successful reversal of propionic acidaemia associated cardiomyopathy: evidence for low myocardial coenzyme Q10 status and secondary mitochondrial dysfunction as an underlying pathophysiological mechanism.

Baruteau J, Hargreaves I, Krywawych S, Chalasani A, Land JM, Davison JE, Kwok MK, Christov G, Karimova A, Ashworth M, Anderson G, Prunty H, Rahman S, Grünewald S.

Mitochondrion. 2014 Jul;17:150-6. doi: 10.1016/j.mito.2014.07.001. Epub 2014 Jul 8.

PMID:
25010387
43.

Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): implications for the disease phenotype.

Gold WA, Williamson SL, Kaur S, Hargreaves IP, Land JM, Pelka GJ, Tam PP, Christodoulou J.

Mitochondrion. 2014 Mar;15:10-7. doi: 10.1016/j.mito.2014.02.012. Epub 2014 Mar 6.

PMID:
24613463
44.

Get rich quick: the signal to respond procedure reveals the time course of semantic richness effects during visual word recognition.

Hargreaves IS, Pexman PM.

Cognition. 2014 May;131(2):216-42. doi: 10.1016/j.cognition.2014.01.001. Epub 2014 Feb 17.

PMID:
24556702
45.

Effect of Coenzyme Q10 supplementation on mitochondrial electron transport chain activity and mitochondrial oxidative stress in Coenzyme Q10 deficient human neuronal cells.

Duberley KE, Heales SJ, Abramov AY, Chalasani A, Land JM, Rahman S, Hargreaves IP.

Int J Biochem Cell Biol. 2014 May;50:60-3. doi: 10.1016/j.biocel.2014.02.003. Epub 2014 Feb 15.

PMID:
24534273
46.

Coenzyme Q10 as a therapy for mitochondrial disease.

Hargreaves IP.

Int J Biochem Cell Biol. 2014 Apr;49:105-11. doi: 10.1016/j.biocel.2014.01.020. Epub 2014 Feb 2. Review.

PMID:
24495877
47.

The ketogenic diet component decanoic acid increases mitochondrial citrate synthase and complex I activity in neuronal cells.

Hughes SD, Kanabus M, Anderson G, Hargreaves IP, Rutherford T, O'Donnell M, Cross JH, Rahman S, Eaton S, Heales SJ.

J Neurochem. 2014 May;129(3):426-33. doi: 10.1111/jnc.12646. Epub 2014 Jan 25.

48.

Coenzyme Q10 prevents accelerated cardiac aging in a rat model of poor maternal nutrition and accelerated postnatal growth.

Tarry-Adkins JL, Blackmore HL, Martin-Gronert MS, Fernandez-Twinn DS, McConnell JM, Hargreaves IP, Giussani DA, Ozanne SE.

Mol Metab. 2013 Sep 27;2(4):480-90. doi: 10.1016/j.molmet.2013.09.004. eCollection 2013.

49.

Dysregulation of glucose metabolism is an early event in sporadic Parkinson's disease.

Dunn L, Allen GF, Mamais A, Ling H, Li A, Duberley KE, Hargreaves IP, Pope S, Holton JL, Lees A, Heales SJ, Bandopadhyay R.

Neurobiol Aging. 2014 May;35(5):1111-5. doi: 10.1016/j.neurobiolaging.2013.11.001. Epub 2013 Nov 9.

50.

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.

Ferdinandusse S, Waterham HR, Heales SJ, Brown GK, Hargreaves IP, Taanman JW, Gunny R, Abulhoul L, Wanders RJ, Clayton PT, Leonard JV, Rahman S.

Orphanet J Rare Dis. 2013 Dec 4;8:188. doi: 10.1186/1750-1172-8-188.

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