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2018 Journal Article The Effect of ACTN3 Gene Doping on Skeletal Muscle PerformanceGarton, Fleur C., Houweling, Peter J., Vukcevic, Damjan, Meehan, Lyra R., Lee, Fiona X.Z., Lek, Monkol, Roeszler, Kelly N., Hogarth, Marshall W., Tiong, Chrystal F., Zannino, Diana, Yang, Nan, Leslie, Stephen, Gregorevic, Paul, Head, Stewart I., Seto, Jane T. and North, Kathryn N. (2018). The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance. American Journal of Human Genetics, 102 (5), 845-857. doi: 10.1016/j.ajhg.2018.03.009 |
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2018 Journal Article Human cerebral evolution and the clinical syndrome of amyotrophic lateral sclerosisHenderson, Robert D., Garton, Fleur C., Kiernan, Matthew C., Turner, Martin R. and Eisen, Andrew (2018). Human cerebral evolution and the clinical syndrome of amyotrophic lateral sclerosis. JNNP Online, 90 (5), jnnp-2017. doi: 10.1136/jnnp-2017-317245 |
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2018 Journal Article No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletesPapadimitriou, Ioannis D., Lockey, Sarah J., Voisin, Sarah, Herbert, Adam J., Garton, Fleur, Houweling, Peter J., Cieszczyk, Pawel, Maciejewska-Skrendo, Agnieszka, Sawczuk, Marek, Massidda, Myosotis, Calò, Carla Maria, Astratenkova, Irina V., Kouvatsi, Anastasia, Druzhevskaya, Anastasiya M., Jacques, Macsue, Ahmetov, Ildus I., Stebbings, Georgina K., Heffernan, Shane, Day, Stephen H., Erskine, Robert, Pedlar, Charles, Kipps, Courtney, North, Kathryn N., Williams, Alun G. and Eynon, Nir (2018). No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes. BMC Genomics, 19 (1) 13, 1-9. doi: 10.1186/s12864-017-4412-0 |
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2018 Conference Publication Allelic Variation in Key Fitness Genes is Linked with Increased Severity of Obesity in Overweight/obese YouthSaner, Christoph, Harcourt, Brooke E., Juonala, Markus, Kao, Kung-Ting, Houweling, Peter, Garton, Fleur, North, Kathryn N. and Sabin, Matthew A. (2018). Allelic Variation in Key Fitness Genes is Linked with Increased Severity of Obesity in Overweight/obese Youth. BASEL: KARGER. |
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2017 Journal Article Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in ChineseGratten, Jacob, Zhao, Qiongyi, Benyamin, Beben, Garton, Fleur, He, Ji, Leo, Paul J., Mangelsdorf, Marie, Anderson, Lisa, Zhang, Zong-Hong, Chen, Lu, Chen, Xiang-Ding, Cremin, Katie, Deng, Hong-Weng, Edson, Janette, Han, Ying-Ying, Harris, Jessica, Henders, Anjali K., Jin, Zi-Bing, Li, Zhongshan, Lin, Yong, Liu, Xiaolu, Marshall, Mhairi, Mowry, Bryan J., Ran, Shu, Reutens, David C., Song, Sharon, Tan, Li-Jun, Tang, Lu, Wallace, Robyn H. ... Fan, Dongsheng (2017). Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese. Genome Medicine, 9 (97) 97, 97. doi: 10.1186/s13073-017-0487-0 |
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2017 Journal Article Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosisBenyamin, Beben, He, Ji, Zhao, Qiongyi, Gratten, Jacob, Garton, Fleur, Leo, Paul J., Liu, Zhijun, Mangelsdorf, Marie, Al-Chalabi, Ammar, Anderson, Lisa, Butler, Timothy J., Chen, Lu, Chen, Xiang-Ding, Cremin, Katie, Deng, Hong-Weng, Devine, Matthew, Edson, Janette, Fifita, Jennifer A., Furlong, Sarah, Han, Ying-Ying, Harris, Jessica, Henders, Anjali K., Jeffree, Rosalind L., Jin, Zi-Bing, Li, Zhongshan, Li, Ting, Li, Mengmeng, Lin, Yong, Liu, Xiaolu ... Fan, Dongsheng (2017). Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis. Nature Communications, 8 (1) 611, 611. doi: 10.1038/s41467-017-00471-1 |
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2017 Journal Article Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitnessWillems, Sara M., Wright, Daniel J., Day, Felix R., Trajanoska, Katerina, Joshi, Peter K., Morris, John A., Matteini, Amy M., Garton, Fleur C., Grarup, Niels, Oskolkov, Nikolay, Thalamuthu, Anbupalam, Mangino, Massimo, Liu, Jun, Demirkan, Ayse, Lek, Monkol, Xu, Liwen, Wang, Guan, Oldmeadow, Christopher, Gaulton, Kyle J., Lotta, Luca A., Miyamoto-Mikami, Eri, Rivas, Manuel A., White, Tom, Loh, Po-Ru, Aadahl, Mette, Amin, Najaf, Attia, John R., Austin, Krista, Benyamin, Beben ... Ohlsson, Claes (2017). Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness. Nature Communications, 8 (1) 16015, 16015. doi: 10.1038/ncomms16015 |
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2017 Journal Article Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohortGarton, Fleur C., Benyamin, Beben, Zhao, Qiongyi, Liu, Zhijun, Gratten, Jacob, Henders, Anjali K., Zhang, Zong-Hong, Edson, Janette, Furlong, Sarah, Morgan, Sarah, Heggie, Susan, Thorpe, Kathryn, Pfluger, Casey, Mather, Karen A., Sachdev, Perminder S., McRae, Allan F., Robinson, Matthew R., Shah, Sonia, Visscher, Peter M., Mangelsdorf, Marie, Henderson, Robert D., Wray, Naomi R. and McCombe, Pamela A. (2017). Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort. Molecular Genetics and Genomic Medicine, 5 (4), 418-428. doi: 10.1002/mgg3.302 |
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2016 Journal Article ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort studyPapadimitriou, Ioannis D., Lucia, Alejandro, Pitsiladis, Yannis P., Pushkarev, Vladimir P., Dyatlov, Dmitry A., Orekhov, Evgeniy F., Artioli, Guilherme G., Guilherme, João Paulo L.F., Lancha, Antonio H., Ginevičiene, Valentina, Cieszczyk, Pawel, Maciejewska-Karlowska, Agnieszka, Sawczuk, Marek, Muniesa, Carlos A., Kouvatsi, Anastasia, Massidda, Myosotis, Calò, Carla Maria, Garton, Fleur, Houweling, Peter J., Wang, Guan, Austin, Krista, Druzhevskaya, Anastasiya M., Astratenkova, Irina V., Ahmetov, Ildus I., Bishop, David J., North, Kathryn N. and Eynon, Nir (2016). ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study. BMC Genomics, 17 (1) 285. doi: 10.1186/s12864-016-2462-3 |
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2016 Journal Article Athlome project consortium: a concerted effort to discover genomic and other "omic" markers of athletic performancePitsiladis, Yannis P., Tanaka, Masashi, Eynon, Nir, Bouchard, Claude, North, Kathryn N., Williams, Alun G., Collins, Malcolm, Moran, Colin N., Britton, Steven L., Fuku, Noriyuki, Ashley, Euan A., Klissouras, Vassilis, Lucia, Alejandro, Ahmetov, Ildus I., De Geus, Eco, Alsayrafi, Mohammed, Webborn, Nick, Wang, Guan, Bishop, David J., Papadimitriou, Ioannis, Yan, Xu, Tirosh, Oren, Kuang, Jujiao, Rankinen, Tuomo, Sarzinsky, Mark, Mikael Mattsson, C., Wheeler, Matthew, Waggott, Daryl, Byrne, Nuala M. ... Pushkarev, Vladimir P. (2016). Athlome project consortium: a concerted effort to discover genomic and other "omic" markers of athletic performance. Physiological Genomics, 48 (3), 183-190. doi: 10.1152/physiolgenomics.00105.2015 |
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2016 Journal Article The effect of heterozygosity for the ACTN3 null allele on human muscle performanceGarton, Fleur C. and North, Kathryn N. (2016). The effect of heterozygosity for the ACTN3 null allele on human muscle performance. Medicine and Science in Sports and Exercise, 48 (3), 509-520. doi: 10.1249/MSS.0000000000000784 |
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2016 Journal Article Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashionHogarth, Marshall W., Garton, Fleur C., Houweling, Peter J., Tukiainen, Taru, Lek, Monkol, Macarthur, Daniel G., Seto, Jane T., Quinlan, Kate G.R., Yang, Nan, Head, Stewart I. and North, Kathryn N. (2016). Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion. Human Molecular Genetics, 25 (5), 866-877. doi: 10.1093/hmg/ddv613 |
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2016 Journal Article Rodent models for resolving extremes of exercise and healthGarton, Fleur C., North, Kathryn N., Koch, Lauren G., Britton, Steven L., Nogales-Gadea, Gisela and Lucia, Alejandro (2016). Rodent models for resolving extremes of exercise and health. Physiological Genomics, 48 (2), 82-92. doi: 10.1152/physiolgenomics.00077.2015 |
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2016 Journal Article No evidence of a common DNA variant profile specific to world class endurance athletesRankinen, Tuomo, Fuku, Noriyuki, Wolfarth, Bernd, Wang, Guan, Sarzynski, Mark A., Alexeev, Dmitry G., Ahmetov, Ildus I., Boulay, Marcel R., Cieszczyk, Pawel, Eynon, Nir, Filipenko, Maxim L., Garton, Fleur C., Generozov, Edward V., Govorun, Vadim M., Houweling, Peter J., Kawahara, Takashi, Kostryukova, Elena S., Kulemin, Nickolay A., Larin, Andrey K., Maciejewska-Karlowska, Agnieszka, Miyachi, Motohiko, Muniesa, Carlos A., Murakami, Haruka, Ospanova, Elena A., Padmanabhan, Sandosh, Pavlenko, Alexander V., Pyankova, Olga N., Santiago, Catalina, Sawczuk, Marek ... Bouchard, Claude (2016). No evidence of a common DNA variant profile specific to world class endurance athletes. PLoS ONE, 11 (1) e0147330, e0147330. doi: 10.1371/journal.pone.0147330 |
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2015 Journal Article Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statementWebborn, Nick, Williams, Alun, McNamee, Mike, Bouchard, Claude, Pitsiladis, Yannis, Ahmetov, Ildus, Ashley, Euan, Byrne, Nuala, Camporesi, Silvia, Collins, Malcolm, Dijkstra, Paul, Eynon, Nir, Fuku, Noriyuki, Garton, Fleur C., Hoppe, Nils, Holm, Søren, Kaye, Jane, Klissouras, Vassilis, Lucia, Alejandro, Maase, Kamiel, Moran, Colin, North, Kathryn N., Pigozzi, Fabio and Wang, Guan (2015). Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement. British Journal of Sports Medicine, 49 (23), 1486-1491. doi: 10.1136/bjsports-2015-095343 |
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2015 Conference Publication A gene for speed: the influence of ACTN3 on muscle performance in health and diseaseHouweling, P., Seto, J., Garton, F., Quinlan, K., Head, S. and North, K. (2015). A gene for speed: the influence of ACTN3 on muscle performance in health and disease. 20th International Congress of the World Muscle Society, Brighton, United Kingdom, 30 September-4 October 2015. London, United Kingdom: Elsevier. doi: 10.1016/j.nmd.2015.06.011 |
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2014 Journal Article α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilizationGarton, F. C., Seto, J. T., Quinlan, K. G. R., Yang, N., Houweling, P. J. and North, K. N. (2014). α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization. Human Molecular Genetics, 23 (7), 1879-1893. doi: 10.1093/hmg/ddt580 |
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2014 Journal Article NF1 is a critical regulator of muscle development and metabolismSullivan, Kate, El-hoss, Jad, Quinlan, Kate G.R., Deo, Nikita, Garton, Fleur, Seto, Jane T.C., Gdalevitch, Marie, Turner, Nigel, Cooney, Gregory J., Kolanczyk, Mateusz, North, Kathryn N., Little, David G. and Schindeler, Aaron (2014). NF1 is a critical regulator of muscle development and metabolism. Human Molecular Genetics, 23 (5) ddt515, 1250-1259. doi: 10.1093/hmg/ddt515 |
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2013 Journal Article ACTN3 genotype infuences muscle performance through the regulation of calcineurin signalingSeto, Jane T., Quinlan, Kate G. R., Lek, Monkol, Zheng, Xi Fiona, Garton, Fleur, Macarthur, Daniel G., Hogarth, Marshall W., Houweling, Peter J., Gregorevic, Paul, Turner, Nigel, Cooney, Gregory J., Yang, Nan and North, Kathryn N. (2013). ACTN3 genotype infuences muscle performance through the regulation of calcineurin signaling. Journal of Clinical Investigation, 123 (10), 4255-4263. doi: 10.1172/JCI67691 |
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2013 Journal Article Genes for elite power and sprint performance: ACTN3 leads the wayEynon, Nir, Hanson, Erik D., Lucia, Alejandro, Houweling, Peter J., Garton, Fleur, North, Kathryn N. and Bishop, David J. (2013). Genes for elite power and sprint performance: ACTN3 leads the way. Sports Medicine, 43 (9), 803-817. doi: 10.1007/s40279-013-0059-4 |
