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Items: 1 to 50 of 784

1.

Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance.

Sommerville EW, Dalla Rosa I, Rosenberg MM, Bruni F, Thompson K, Rocha M, Blakely EL, He L, Falkous G, Schaefer AM, Yu-Wai-Man P, Chinnery PF, Hedstrom L, Spinazzola A, Taylor RW, Gorman GS.

Clin Genet. 2019 Oct 10. doi: 10.1111/cge.13652. [Epub ahead of print]

PMID:
31600844
2.

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.

Balaraju S, Töpf A, McMacken G, Kumar VP, Pechmann A, Roper H, Vengalil S, Polavarapu K, Nashi S, Mahajan NP, Barbosa IA, Deshpande C, Taylor RW, Cossins J, Beeson D, Laurie S, Kirschner J, Horvath R, McFarland R, Atchayaram N, Lochmüller H.

Eur J Hum Genet. 2019 Sep 16. doi: 10.1038/s41431-019-0506-2. [Epub ahead of print]

PMID:
31527857
3.

Predictors of response to augmentation treatment in patients with treatment-resistant depression: A systematic review.

Taylor RW, Marwood L, Greer B, Strawbridge R, Cleare AJ.

J Psychopharmacol. 2019 Nov;33(11):1323-1339. doi: 10.1177/0269881119872194. Epub 2019 Sep 17.

PMID:
31526204
4.

Empowering conservation practice with efficient and economical genotyping from poor quality samples.

Natesh M, Taylor RW, Truelove NK, Hadly EA, Palumbi SR, Petrov DA, Ramakrishnan U.

Methods Ecol Evol. 2019 Jun;10(6):853-859. doi: 10.1111/2041-210X.13173. Epub 2019 Apr 10.

5.

Ranked Importance of Childhood Obesity Determinants: Parents' Views across Ethnicities in New Zealand.

Glover M, Wong SF, Fa'alili-Fidow J, Derraik JGB, Taylor RW, Morton SMB, Tautolo ES, Cutfield WS.

Nutrients. 2019 Sep 7;11(9). pii: E2145. doi: 10.3390/nu11092145.

6.

A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.

Hellebrekers DMEI, Blakely EL, Hendrickx ATM, Hardy SA, Hopton S, Falkous G, de Coo IFM, Smeets HJM, van der Beek NME, Taylor RW.

Neuromuscul Disord. 2019 Sep;29(9):693-697. doi: 10.1016/j.nmd.2019.08.005. Epub 2019 Aug 21.

7.

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.

Keshavan N, Abdenur J, Anderson G, Assouline Z, Barcia G, Bouhikbar L, Chakrapani A, Cleary M, Cohen MC, Feillet F, Fratter C, Hauser N, Jacques T, Lam A, McCullagh H, Phadke R, Rötig A, Sharrard M, Simon M, Smith C, Sommerville EW, Taylor RW, Yue WW, Rahman S.

Genet Med. 2019 Aug 29. doi: 10.1038/s41436-019-0613-z. [Epub ahead of print]

PMID:
31462754
8.

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.

Oláhová M, Ceccatelli Berti C, Collier JJ, Alston CL, Jameson E, Jones SA, Edwards N, He L, Chinnery PF, Horvath R, Goffrini P, Taylor RW, Sayer JA.

Hum Mol Genet. 2019 Aug 22. pii: ddz202. doi: 10.1093/hmg/ddz202. [Epub ahead of print]

PMID:
31435670
9.

Parental Perceptions of Obesity in School Children and Subsequent Action.

Butler ÉM, Suhag A, Hong Y, Liang L, Gong C, Xiong F, Luo F, Liu G, Chen S, Taylor RW, Cutfield WS, Fu J, Derraik JGB.

Child Obes. 2019 Oct;15(7):459-467. doi: 10.1089/chi.2018.0338. Epub 2019 Aug 13.

PMID:
31408357
10.

Feasibility of Automated Cameras to Measure Screen Use in Adolescents.

Smith C, Galland BC, de Bruin WE, Taylor RW.

Am J Prev Med. 2019 Sep;57(3):417-424. doi: 10.1016/j.amepre.2019.04.012. Epub 2019 Aug 1.

PMID:
31377085
11.

Fecal Microbiotas of Indonesian and New Zealand Children Differ in Complexity and Bifidobacterial Taxa during the First Year of Life.

Lawley B, Otal A, Moloney-Geany K, Diana A, Houghton L, Heath AM, Taylor RW, Tannock GW.

Appl Environ Microbiol. 2019 Sep 17;85(19). pii: e01105-19. doi: 10.1128/AEM.01105-19. Print 2019 Oct 1.

PMID:
31375480
12.

Clinical presentation and proteomic signature of patients with TANGO2 mutations.

Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Waddell L, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero D, Jou C, Nascimento A, Ortez C, García-Cazorla A, Gross C, O'Callaghan M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero R, Sarquella G, Lochmüller H, Jiménez-Mallebrera C, Taylor RW, Artuch R, Kirschner J, Grünert SC, Roos A, Horvath R.

J Inherit Metab Dis. 2019 Jul 24. doi: 10.1002/jimd.12156. [Epub ahead of print]

PMID:
31339582
13.

Interferometric Scattering Microscopy: Seeing Single Nanoparticles and Molecules via Rayleigh Scattering.

Taylor RW, Sandoghdar V.

Nano Lett. 2019 Aug 14;19(8):4827-4835. doi: 10.1021/acs.nanolett.9b01822. Epub 2019 Jul 30.

14.

Decomposing ethnic differences in body mass index and obesity rates among New Zealand pre-schoolers.

Shackleton N, Derraik JGB, Audas R, Taylor RW, Glover M, Morton SMB, Tautolo ES, Kokaua J, Taylor B, Cutfield WS, Milne BJ.

Int J Obes (Lond). 2019 Oct;43(10):1951-1960. doi: 10.1038/s41366-019-0390-4. Epub 2019 Jun 13.

PMID:
31197250
15.

Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.

Ng YS, Martikainen MH, Gorman GS, Blain A, Bugiardini E, Bunting A, Schaefer AM, Alston CL, Blakely EL, Sharma S, Hughes I, Lim A, de Goede C, McEntagart M, Spinty S, Horrocks I, Roberts M, Woodward CE, Chinnery PF, Horvath R, Nesbitt V, Fratter C, Poulton J, Hanna MG, Pitceathly RDS, Taylor RW, Turnbull DM, McFarland R.

Ann Neurol. 2019 Aug;86(2):310-315. doi: 10.1002/ana.25525. Epub 2019 Jul 1.

16.

Relative Validity and Reproducibility of a Food Frequency Questionnaire to Assess Energy Intake from Minimally Processed and Ultra-Processed Foods in Young Children.

Fangupo LJ, Haszard JJ, Leong C, Heath AM, Fleming EA, Taylor RW.

Nutrients. 2019 Jun 7;11(6). pii: E1290. doi: 10.3390/nu11061290.

17.

A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia.

Zierz CM, Baty K, Blakely EL, Hopton S, Falkous G, Schaefer AM, Hadjivassiliou M, Sarrigiannis PG, Ng YS, Taylor RW.

J Clin Med. 2019 Jun 4;8(6). pii: E789. doi: 10.3390/jcm8060789.

18.

Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level.

Lehmann D, Tuppen HAL, Campbell GE, Alston CL, Lawless C, Rosa HS, Rocha MC, Reeve AK, Nicholls TJ, Deschauer M, Zierz S, Taylor RW, Turnbull DM, Vincent AE.

Nucleic Acids Res. 2019 Aug 22;47(14):7430-7443. doi: 10.1093/nar/gkz472.

19.

Cognitive deficits in adult m.3243A>G- and m.8344A>G-related mitochondrial disease: importance of correcting for baseline intellectual ability.

Moore HL, Kelly T, Bright A, Field RH, Schaefer AM, Blain AP, Taylor RW, McFarland R, Turnbull DM, Gorman GS.

Ann Clin Transl Neurol. 2019 Mar 27;6(5):826-836. doi: 10.1002/acn3.736. eCollection 2019 May.

20.

Consistent use of bedtime parenting strategies mediates the effects of sleep education on child sleep: secondary findings from an early-life randomized controlled trial.

Hatch B, Galland BC, Gray AR, Taylor RW, Sayers R, Lawrence J, Taylor B.

Sleep Health. 2019 Oct;5(5):433-443. doi: 10.1016/j.sleh.2019.03.002. Epub 2019 May 20.

PMID:
31122876
21.

Mitochondrial Donation - Which Women Could Benefit?

Pickett SJ, Blain A, Ng YS, Wilson IJ, Taylor RW, McFarland R, Turnbull DM, Gorman GS.

N Engl J Med. 2019 May 16;380(20):1971-1972. doi: 10.1056/NEJMc1808565. No abstract available.

PMID:
31091381
22.

Do differences in compositional time use explain ethnic variation in the prevalence of obesity in children? Analyses using 24-hour accelerometry.

Taylor RW, Haszard JJ, Farmer VL, Richards R, Te Morenga L, Meredith-Jones K, Mann JI.

Int J Obes (Lond). 2019 May 14. doi: 10.1038/s41366-019-0377-1. [Epub ahead of print]

PMID:
31089262
23.

The Complexity of Food Provisioning Decisions by Māori Caregivers to Ensure the Happiness and Health of Their Children.

Glover M, Wong SF, Taylor RW, Derraik JGB, Fa'alili-Fidow J, Morton SM, Cutfield WS.

Nutrients. 2019 Apr 30;11(5). pii: E994. doi: 10.3390/nu11050994.

24.

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.

Saoura M, Powell CA, Kopajtich R, Alahmad A, Al-Balool HH, Albash B, Alfadhel M, Alston CL, Bertini E, Bonnen PE, Bratkovic D, Carrozzo R, Donati MA, Di Nottia M, Ghezzi D, Goldstein A, Haan E, Horvath R, Hughes J, Invernizzi F, Lamantea E, Lucas B, Pinnock KG, Pujantell M, Rahman S, Rebelo-Guiomar P, Santra S, Verrigni D, McFarland R, Prokisch H, Taylor RW, Levinger L, Minczuk M.

Hum Mutat. 2019 Oct;40(10):1731-1748. doi: 10.1002/humu.23777. Epub 2019 Jun 18.

PMID:
31045291
25.

Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmüller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R.

Genet Med. 2019 Sep;21(9):2163-2164. doi: 10.1038/s41436-019-0506-1.

PMID:
31028354
26.

A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes.

Lim AZ, Blakely EL, Baty K, He L, Hopton S, Falkous G, McWilliam K, Cozens A, McFarland R, Taylor RW.

Mitochondrion. 2019 Jul;47:18-23. doi: 10.1016/j.mito.2019.04.007. Epub 2019 Apr 22.

27.

Recent advances in understanding the molecular genetic basis of mitochondrial disease.

Thompson K, Collier JJ, Glasgow RIC, Robertson FM, Pyle A, Blakely EL, Alston CL, Oláhová M, McFarland R, Taylor RW.

J Inherit Metab Dis. 2019 Apr 25. doi: 10.1002/jimd.12104. [Epub ahead of print]

PMID:
31021000
28.

Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network.

Vincent AE, White K, Davey T, Philips J, Ogden RT, Lawless C, Warren C, Hall MG, Ng YS, Falkous G, Holden T, Deehan D, Taylor RW, Turnbull DM, Picard M.

Cell Rep. 2019 Apr 2;27(1):321. doi: 10.1016/j.celrep.2019.03.051. No abstract available.

29.

Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.

Hayhurst H, de Coo IFM, Piekutowska-Abramczuk D, Alston CL, Sharma S, Thompson K, Rius R, He L, Hopton S, Ploski R, Ciara E, Lake NJ, Compton AG, Delatycki MB, Verrips A, Bonnen PE, Jones SA, Morris AA, Shakespeare D, Christodoulou J, Wesol-Kucharska D, Rokicki D, Smeets HJM, Pronicka E, Thorburn DR, Gorman GS, McFarland R, Taylor RW, Ng YS.

Ann Clin Transl Neurol. 2019 Feb 17;6(3):515-524. doi: 10.1002/acn3.725. eCollection 2019 Mar. Erratum in: Ann Clin Transl Neurol. 2019 Apr 17;6(4):821.

30.

Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement.

Perli E, Pisano A, Glasgow RIC, Carbo M, Hardy SA, Falkous G, He L, Cerbelli B, Pignataro MG, Zacara E, Re F, Della Monica PL, Morea V, Bonnen PE, Taylor RW, d'Amati G, Giordano C.

Sci Rep. 2019 Mar 25;9(1):5108. doi: 10.1038/s41598-019-41483-9.

31.

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.

Handley MT, Reddy K, Wills J, Rosser E, Kamath A, Halachev M, Falkous G, Williams D, Cox P, Meynert A, Raymond ES, Morrison H, Brown S, Allan E, Aligianis I, Jackson AP, Ramsahoye BH, von Kriegsheim A, Taylor RW, Finch AJ, FitzPatrick DR.

PLoS Genet. 2019 Mar 11;15(3):e1007605. doi: 10.1371/journal.pgen.1007605. eCollection 2019 Mar.

32.

A case-comparison study of pregnant women with mitochondrial disease - what to expect?

Feeney CL, Lim AZ, Fagan E, Blain A, Bright A, Maddison J, Devine H, Stewart J, Taylor RW, Gorman GS, Turnbull DM, Nesbitt V, McFarland R.

BJOG. 2019 Oct;126(11):1380-1389. doi: 10.1111/1471-0528.15667. Epub 2019 Mar 27.

33.

Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions.

Persson Ö, Muthukumar Y, Basu S, Jenninger L, Uhler JP, Berglund AK, McFarland R, Taylor RW, Gustafsson CM, Larsson E, Falkenberg M.

Nat Commun. 2019 Feb 15;10(1):759. doi: 10.1038/s41467-019-08673-5.

34.

Expression of Collagen Types I, II, IX, and X in the Mineralizing Turkey Gastrocnemius Tendon.

Taylor RW, Mitchell GK, Andrade JL, Svoboda KK.

Anat Rec (Hoboken). 2019 Feb 15. doi: 10.1002/ar.24091. [Epub ahead of print]

PMID:
30768858
35.

Do orthopedic corrections of growing retrognathic hyperdivergent patients produce stable results?

Rice AJ, Carrillo R, Campbell PM, Taylor RW, Buschang PH.

Angle Orthod. 2019 Jul;89(4):552-558. doi: 10.2319/061818-460.1. Epub 2019 Feb 11.

PMID:
30741574
36.

Prediction Models for Early Childhood Obesity: Applicability and Existing Issues.

Butler ÉM, Derraik JGB, Taylor RW, Cutfield WS.

Horm Res Paediatr. 2018;90(6):358-367. doi: 10.1159/000496563. Epub 2019 Feb 8. Review.

37.

Examining the accuracy of the New Zealand B4 School Check universal health service anthropometric measurements of children.

Hatch B, Gray AR, Taylor RW, Hanna M, Heath AL, Lawrence J, Sayers R, Taylor B.

N Z Med J. 2019 Feb 1;132(1489):89-101.

PMID:
30703783
38.

Mitochondrial stress response triggered by defects in protein synthesis quality control.

Richter U, Ng KY, Suomi F, Marttinen P, Turunen T, Jackson C, Suomalainen A, Vihinen H, Jokitalo E, Nyman TA, Isokallio MA, Stewart JB, Mancini C, Brusco A, Seneca S, Lombès A, Taylor RW, Battersby BJ.

Life Sci Alliance. 2019 Jan 25;2(1). pii: e201800219. doi: 10.26508/lsa.201800219. Print 2019 Feb.

39.

Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network.

Vincent AE, White K, Davey T, Philips J, Ogden RT, Lawless C, Warren C, Hall MG, Ng YS, Falkous G, Holden T, Deehan D, Taylor RW, Turnbull DM, Picard M.

Cell Rep. 2019 Jan 22;26(4):996-1009.e4. doi: 10.1016/j.celrep.2019.01.010. Epub 2019 Jan 15. Erratum in: Cell Rep. 2019 Apr 2;27(1):321.

40.

Response.

Taylor RW, Roy M.

Med Sci Sports Exerc. 2019 Feb;51(2):390. doi: 10.1249/MSS.0000000000001799. No abstract available.

PMID:
30649096
41.

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.

Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte JF, Ellaway C, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, Massey S, Kay DP, Shukla A, Girisha KM, Lewis LES, Santra S, Power R, Daubeney P, Montoya J, Ruiz-Pesini E, Kovacs-Nagy R, Pritsch M, Ahting U, Thorburn DR, Prokisch H, Taylor RW, Christodoulou J, Linster CL, Ellard S, Hakonarson H.

Brain. 2019 Jan 1;142(1):50-58. doi: 10.1093/brain/awy310.

PMID:
30576410
42.

A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways.

Agnew T, Goldsworthy M, Aguilar C, Morgan A, Simon M, Hilton H, Esapa C, Wu Y, Cater H, Bentley L, Scudamore C, Poulton J, Morten KJ, Thompson K, He L, Brown SDM, Taylor RW, Bowl MR, Cox RD.

Cell Rep. 2018 Dec 18;25(12):3315-3328.e6. doi: 10.1016/j.celrep.2018.11.080.

43.

Effect of automated messaging on oral hygiene in adolescent orthodontic patients: A randomized controlled trial.

Ross MC, Campbell PM, Tadlock LP, Taylor RW, Buschang PH.

Angle Orthod. 2019 Mar;89(2):262-267. doi: 10.2319/040618-260.1. Epub 2018 Dec 5.

PMID:
30516416
44.

24-h movement behaviors from infancy to preschool: cross-sectional and longitudinal relationships with body composition and bone health.

Taylor RW, Haszard JJ, Meredith-Jones KA, Galland BC, Heath AM, Lawrence J, Gray AR, Sayers R, Hanna M, Taylor BJ.

Int J Behav Nutr Phys Act. 2018 Nov 26;15(1):118. doi: 10.1186/s12966-018-0753-6.

45.

Brief tools to measure obesity-related behaviours in children under 5 years of age: A systematic review.

Byrne R, Bell L, Taylor RW, Mauch C, Mihrshahi S, Zarnowiecki D, Hesketh KD, Wen LM, Trost SG, Golley R.

Obes Rev. 2019 Mar;20(3):432-447. doi: 10.1111/obr.12801. Epub 2018 Nov 23.

PMID:
30468286
46.

Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy.

Pacheu-Grau D, Callegari S, Emperador S, Thompson K, Aich A, Topol SE, Spencer EG, McFarland R, Ruiz-Pesini E, Torkamani A, Taylor RW, Montoya J, Rehling P.

Hum Mol Genet. 2018 Dec 1;27(23):4135-4144. doi: 10.1093/hmg/ddy305.

47.

Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease.

Boal RL, Ng YS, Pickett SJ, Schaefer AM, Feeney C, Bright A, Taylor RW, Turnbull DM, Gorman GS, Cheetham T, McFarland R.

J Clin Endocrinol Metab. 2019 Jun 1;104(6):2057-2066. doi: 10.1210/jc.2018-00957.

48.

Expanding the clinical phenotype of IARS2-related mitochondrial disease.

Vona B, Maroofian R, Bellacchio E, Najafi M, Thompson K, Alahmad A, He L, Ahangari N, Rad A, Shahrokhzadeh S, Bahena P, Mittag F, Traub F, Movaffagh J, Amiri N, Doosti M, Boostani R, Shirzadeh E, Haaf T, Diodato D, Schmidts M, Taylor RW, Karimiani EG.

BMC Med Genet. 2018 Nov 12;19(1):196. doi: 10.1186/s12881-018-0709-3.

49.

Relative Validity and Reproducibility of a Food Frequency Questionnaire to Assess Nutrients and Food Groups of Relevance to the Gut Microbiota in Young Children.

Leong C, Taylor RW, Haszard JJ, Fleming EA, Tannock GW, Szymlek-Gay EA, Cameron SL, Yu R, Carter H, Chee LK, Kennedy L, Moore R, Heath AM.

Nutrients. 2018 Nov 2;10(11). pii: E1627. doi: 10.3390/nu10111627.

50.

Who Are the Key Players Involved with Shaping Public Opinion and Policies on Obesity and Diabetes in New Zealand?

de Bruin WE, Stayner C, Lange M, Taylor RW.

Nutrients. 2018 Oct 30;10(11). pii: E1592. doi: 10.3390/nu10111592.

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