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Items: 1 to 50 of 753

1.

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.

2.

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

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

BJOG. 2019 Feb 24. doi: 10.1111/1471-0528.15667. [Epub ahead of print]

PMID:
30801962
3.

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.

4.

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
5.

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

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

Angle Orthod. 2019 Feb 11. doi: 10.2319/061818-460.1. [Epub ahead of print]

PMID:
30741574
6.

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

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

Horm Res Paediatr. 2019 Feb 8:1-10. doi: 10.1159/000496563. [Epub ahead of print] Review.

7.

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
8.

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.

9.

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

Vincent AE, White K, Davey T, Philips J, Ogden RT, Lawess 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.

10.

Response.

Taylor RW, Roy M.

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

PMID:
30649096
11.

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
12.

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.

13.

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
14.

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.

15.

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. Review.

PMID:
30468286
16.

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.

17.

Height as a clinical biomarker of disease burden in adult mitochondrial disease.

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

J Clin Endocrinol Metab. 2018 Nov 13. doi: 10.1210/jc.2018-00957. [Epub ahead of print]

PMID:
30423112
18.

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.

19.

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.

20.

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.

21.

Cost-effective assembly of the African wild dog (Lycaon pictus) genome using linked reads.

Armstrong EE, Taylor RW, Prost S, Blinston P, van der Meer E, Madzikanda H, Mufute O, Mandisodza-Chikerema R, Stuelpnagel J, Sillero-Zubiri C, Petrov D.

Gigascience. 2019 Feb 1;8(2). doi: 10.1093/gigascience/giy124.

22.

Early maternal feeding practices: Associations with overweight later in childhood.

Haszard JJ, Russell CG, Byrne RA, Taylor RW, Campbell KJ.

Appetite. 2019 Jan 1;132:91-96. doi: 10.1016/j.appet.2018.10.008. Epub 2018 Oct 9.

PMID:
30308224
23.

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.

Sommerville EW, Zhou XL, Oláhová M, Jenkins J, Euro L, Konovalova S, Hilander T, Pyle A, He L, Habeebu S, Saunders C, Kelsey A, Morris AAM, McFarland R, Suomalainen A, Gorman GS, Wang ED, Thiffault I, Tyynismaa H, Taylor RW.

Hum Mol Genet. 2019 Jan 15;28(2):258-268. doi: 10.1093/hmg/ddy294.

24.

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.

Alston CL, Heidler J, Dibley MG, Kremer LS, Taylor LS, Fratter C, French CE, Glasgow RIC, Feichtinger RG, Delon I, Pagnamenta AT, Dolling H, Lemonde H, Aiton N, Bjørnstad A, Henneke L, Gärtner J, Thiele H, Tauchmannova K, Quaghebeur G, Houstek J, Sperl W, Raymond FL, Prokisch H, Mayr JA, McFarland R, Poulton J, Ryan MT, Wittig I, Henneke M, Taylor RW.

Am J Hum Genet. 2018 Oct 4;103(4):592-601. doi: 10.1016/j.ajhg.2018.08.013. Epub 2018 Sep 20.

25.

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.

Thompson K, Mai N, Oláhová M, Scialó F, Formosa LE, Stroud DA, Garrett M, Lax NZ, Robertson FM, Jou C, Nascimento A, Ortez C, Jimenez-Mallebrera C, Hardy SA, He L, Brown GK, Marttinen P, McFarland R, Sanz A, Battersby BJ, Bonnen PE, Ryan MT, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW.

EMBO Mol Med. 2018 Nov;10(11). pii: e9060. doi: 10.15252/emmm.201809060.

26.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH; GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP.

Am J Hum Genet. 2018 Sep 6;103(3):456. doi: 10.1016/j.ajhg.2018.08.012. No abstract available.

27.

Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations.

Su T, Grady JP, Afshar S, McDonald SA, Taylor RW, Turnbull DM, Greaves LC.

J Pathol. 2018 Dec;246(4):427-432. doi: 10.1002/path.5156. Epub 2018 Nov 5.

28.

Impact of a Modified Version of Baby-Led Weaning on Dietary Variety and Food Preferences in Infants.

Morison BJ, Heath AM, Haszard JJ, Hein K, Fleming EA, Daniels L, Erickson EW, Fangupo LJ, Wheeler BJ, Taylor BJ, Taylor RW.

Nutrients. 2018 Aug 15;10(8). pii: E1092. doi: 10.3390/nu10081092.

29.

Sleep, nutrition, and physical activity interventions to prevent obesity in infancy: follow-up of the Prevention of Overweight in Infancy (POI) randomized controlled trial at ages 3.5 and 5 y.

Taylor RW, Gray AR, Heath AM, Galland BC, Lawrence J, Sayers R, Healey D, Tannock GW, Meredith-Jones KA, Hanna M, Hatch B, Taylor BJ.

Am J Clin Nutr. 2018 Aug 1;108(2):228-236. doi: 10.1093/ajcn/nqy090.

PMID:
30101329
30.

Food fussiness and early feeding characteristics of infants following Baby-Led Weaning and traditional spoon-feeding in New Zealand: An internet survey.

Fu X, Conlon CA, Haszard JJ, Beck KL, von Hurst PR, Taylor RW, Heath AM.

Appetite. 2018 Nov 1;130:110-116. doi: 10.1016/j.appet.2018.07.033. Epub 2018 Aug 2.

PMID:
30077730
31.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH; GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP.

Am J Hum Genet. 2018 Aug 2;103(2):221-231. doi: 10.1016/j.ajhg.2018.07.001. Epub 2018 Jul 26. Erratum in: Am J Hum Genet. 2018 Sep 6;103(3):456.

32.

Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy.

King MS, Thompson K, Hopton S, He L, Kunji ERS, Taylor RW, Ortiz-Gonzalez XR.

Neurol Genet. 2018 Jul 20;4(4):e256. doi: 10.1212/NXG.0000000000000256. eCollection 2018 Aug.

33.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S.

Orphanet J Rare Dis. 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8.

34.

Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study.

Hayhurst H, Anagnostou ME, Bogle HJ, Grady JP, Taylor RW, Bindoff LA, McFarland R, Turnbull DM, Lax NZ.

Brain Pathol. 2019 Jan;29(1):97-113. doi: 10.1111/bpa.12640. Epub 2018 Oct 9.

PMID:
30021052
35.

Subcellular origin of mitochondrial DNA deletions in human skeletal muscle.

Vincent AE, Rosa HS, Pabis K, Lawless C, Chen C, Grünewald A, Rygiel KA, Rocha MC, Reeve AK, Falkous G, Perissi V, White K, Davey T, Petrof BJ, Sayer AA, Cooper C, Deehan D, Taylor RW, Turnbull DM, Picard M.

Ann Neurol. 2018 Aug;84(2):289-301. doi: 10.1002/ana.25288. Epub 2018 Aug 21.

36.

Mediation Analysis as a Means of Identifying Dietary Components That Differentially Affect the Fecal Microbiota of Infants Weaned by Modified Baby-Led and Traditional Approaches.

Leong C, Haszard JJ, Lawley B, Otal A, Taylor RW, Szymlek-Gay EA, Fleming EA, Daniels L, Fangupo LJ, Tannock GW, Heath AM.

Appl Environ Microbiol. 2018 Aug 31;84(18). pii: e00914-18. doi: 10.1128/AEM.00914-18. Print 2018 Sep 15.

37.

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.

Xu Z, Lo WS, Beck DB, Schuch LA, Oláhová M, Kopajtich R, Chong YE, Alston CL, Seidl E, Zhai L, Lau CF, Timchak D, LeDuc CA, Borczuk AC, Teich AF, Juusola J, Sofeso C, Müller C, Pierre G, Hilliard T, Turnpenny PD, Wagner M, Kappler M, Brasch F, Bouffard JP, Nangle LA, Yang XL, Zhang M, Taylor RW, Prokisch H, Griese M, Chung WK, Schimmel P.

Am J Hum Genet. 2018 Jul 5;103(1):100-114. doi: 10.1016/j.ajhg.2018.06.006.

38.

Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene.

Smith F, Hopton S, Dallabona C, Gilberti M, Falkous G, Norwood F, Donnini C, Gorman GS, Clark B, Taylor RW, Kulasekararaj AG.

Haematologica. 2018 Jul 5. pii: haematol.2018.194464. doi: 10.3324/haematol.2018.194464. [Epub ahead of print] No abstract available.

39.

Self-monitoring has no adverse effect on disordered eating in adults seeking treatment for obesity.

Jospe MR, Brown RC, Williams SM, Roy M, Meredith-Jones KA, Taylor RW.

Obes Sci Pract. 2018 Apr 19;4(3):283-288. doi: 10.1002/osp4.168. eCollection 2018 Jun.

40.

Impact of a modified version of baby-led weaning on iron intake and status: a randomised controlled trial.

Daniels L, Taylor RW, Williams SM, Gibson RS, Fleming EA, Wheeler BJ, Taylor BJ, Haszard JJ, Heath AM.

BMJ Open. 2018 Jun 27;8(6):e019036. doi: 10.1136/bmjopen-2017-019036.

41.

Impact of a Modified Version of Baby-Led Weaning on Infant Food and Nutrient Intakes: The BLISS Randomized Controlled Trial.

Williams Erickson L, Taylor RW, Haszard JJ, Fleming EA, Daniels L, Morison BJ, Leong C, Fangupo LJ, Wheeler BJ, Taylor BJ, Te Morenga L, McLean RM, Heath AM.

Nutrients. 2018 Jun 7;10(6). pii: E740. doi: 10.3390/nu10060740.

42.

The importance of medical assessment prior to high-intensity interval training.

Roy MC, Meredith-Jones KA, Osborne HR, Williams SM, Brown RC, Jospe MR, Taylor RW.

N Z Med J. 2018 Jun 8;131(1476):100-102. No abstract available.

PMID:
29879735
43.

Parental feeding practices associated with children's eating and weight: What are parents of toddlers and preschool children doing?

Russell CG, Haszard JJ, Taylor RW, Heath AM, Taylor B, Campbell KJ.

Appetite. 2018 Sep 1;128:120-128. doi: 10.1016/j.appet.2018.05.145. Epub 2018 May 26.

PMID:
29842967
44.

Modified Version of Baby-Led Weaning Does Not Result in Lower Zinc Intake or Status in Infants: A Randomized Controlled Trial.

Daniels L, Taylor RW, Williams SM, Gibson RS, Samman S, Wheeler BJ, Taylor BJ, Fleming EA, Hartley NK, Heath AM.

J Acad Nutr Diet. 2018 Jun;118(6):1006-1016.e1. doi: 10.1016/j.jand.2018.02.005.

PMID:
29803269
45.

Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study.

Sithamparanathan S, Rocha MC, Parikh JD, Rygiel KA, Falkous G, Grady JP, Hollingsworth KG, Trenell MI, Taylor RW, Turnbull DM, Gorman GS, Corris PA.

Pulm Circ. 2018 Apr-Jun;8(2):2045894018768290. doi: 10.1177/2045894018768290.

46.

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.

Grady JP, Pickett SJ, Ng YS, Alston CL, Blakely EL, Hardy SA, Feeney CL, Bright AA, Schaefer AM, Gorman GS, McNally RJ, Taylor RW, Turnbull DM, McFarland R.

EMBO Mol Med. 2018 Jun;10(6). pii: e8262. doi: 10.15252/emmm.201708262.

47.

High-Intensity Interval Training in the Real World: Outcomes from a 12-Month Intervention in Overweight Adults.

Roy M, Williams SM, Brown RC, Meredith-Jones KA, Osborne H, Jospe M, Taylor RW.

Med Sci Sports Exerc. 2018 Sep;50(9):1818-1826. doi: 10.1249/MSS.0000000000001642.

PMID:
29683919
48.

Childhood obesity: how long should we wait to predict weight?

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

J Pediatr Endocrinol Metab. 2018 Apr 25;31(5):497-501. doi: 10.1515/jpem-2018-0110. Review.

PMID:
29668465
49.

A novel histochemistry assay to assess and quantify focal cytochrome c oxidase deficiency.

Simard ML, Mourier A, Greaves LC, Taylor RW, Stewart JB.

J Pathol. 2018 Jul;245(3):311-323. doi: 10.1002/path.5084. Epub 2018 May 14.

50.

Retrospective natural history of thymidine kinase 2 deficiency.

Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M.

J Med Genet. 2018 Aug;55(8):515-521. doi: 10.1136/jmedgenet-2017-105012. Epub 2018 Mar 30.

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