96 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2018 Garton FC, Houweling PJ, Vukcevic D, Meehan LR, Lee FXZ, Lek M, Roeszler KN, Hogarth MW, Tiong CF, Zannino D, Yang N, Leslie S, Gregorevic P, Head SI, Seto JT, ... North KN, et al. The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance. American Journal of Human Genetics. PMID 29706347 DOI: 10.1016/j.ajhg.2018.03.009  0.72
2018 Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, ... ... North KN, et al. Congenital titinopathy: Comprehensive characterisation and pathogenic insights. Annals of Neurology. PMID 29691892 DOI: 10.1002/ana.25241  0.72
2017 Willems SM, Wright DJ, Day FR, Trajanoska K, Joshi PK, Morris JA, Matteini AM, Garton FC, Grarup N, Oskolkov N, Thalamuthu A, Mangino M, Liu J, Demirkan A, Lek M, ... ... North KN, et al. Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness. Nature Communications. 8: 16015. PMID 29313844 DOI: 10.1038/ncomms16015  0.72
2017 Sandaradura SA, Bournazos A, Mallawaarachchi A, Cummings BB, Waddell LB, Jones KJ, Troedson C, Sudarsanam A, Nash BM, Peters GB, Algar EM, MacArthur DG, North KN, Brammah S, Charlton A, et al. Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. Human Mutation. PMID 29266598 DOI: 10.1002/humu.23385  0.32
2017 Schofield D, Alam K, Douglas L, Shrestha R, MacArthur DG, Davis M, Laing NG, Clarke NF, Burns J, Cooper ST, North KN, Sandaradura SA, O'Grady GL. Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases. Npj Genomic Medicine. 2. PMID 29152331 DOI: 10.1038/s41525-017-0006-7  0.36
2017 Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, ... ... North KN, et al. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science Translational Medicine. 9. PMID 28424332 DOI: 10.1126/scitranslmed.aal5209  0.72
2016 O'Grady GL, Best HA, Sztal TE, Schartner V, Sanjuan-Vazquez M, Donkervoort S, Abath Neto O, Sutton RB, Ilkovski B, Romero NB, Stojkovic T, Dastgir J, Waddell LB, Boland A, Hu Y, ... ... North KN, et al. Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. American Journal of Human Genetics. PMID 27745833 DOI: 10.1016/j.ajhg.2016.09.005  0.72
2016 O'Grady GL, Verschuuren C, Yuen M, Webster R, Menezes M, Fock JM, Pride N, Best HA, Benavides Damm T, Turner C, Lek M, Engel AG, North KN, Clarke NF, MacArthur DG, et al. Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. Neurology. PMID 27590285 DOI: 10.1212/WNL.0000000000003179  0.4
2016 Arnold SS, Barton B, McArthur G, North KN, Payne JM. Phonics Training Improves Reading in Children with Neurofibromatosis Type 1: A Prospective Intervention Trial. The Journal of Pediatrics. PMID 27480199 DOI: 10.1016/j.jpeds.2016.06.037  0.4
2016 Ghaoui R, Benavides T, Lek M, Waddell LB, Kaur S, North KN, MacArthur DG, Clarke NF, Cooper ST. TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy. Neuromuscular Disorders : Nmd. PMID 27342937 DOI: 10.1016/j.nmd.2016.05.013  0.72
2016 Papadimitriou ID, Lucia A, Pitsiladis YP, Pushkarev VP, Dyatlov DA, Orekhov EF, Artioli GG, Guilherme JP, Lancha AH, Ginevičienė V, Cieszczyk P, Maciejewska-Karlowska A, Sawczuk M, Muniesa CA, Kouvatsi A, ... ... North KN, et al. ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study. Bmc Genomics. 17: 285. PMID 27075997 DOI: 10.1186/s12864-016-2462-3  0.4
2016 Rankinen T, Fuku N, Wolfarth B, Wang G, Sarzynski MA, Alexeev DG, Ahmetov II, Boulay MR, Cieszczyk P, Eynon N, Filipenko ML, Garton FC, Generozov EV, Govorun VM, Houweling PJ, ... ... North KN, et al. No Evidence of a Common DNA Variant Profile Specific to World Class Endurance Athletes. Plos One. 11: e0147330. PMID 26824906 DOI: 10.1371/journal.pone.0147330  0.4
2016 O'Grady GL, Ma A, Sival D, Wong MT, Peduto T, Menezes MP, Young H, Waddell L, Ghaoui R, Needham M, Lek M, North KN, MacArthur DG, van Ravenswaaij-Arts CM, Clarke NF. Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease. European Journal of Human Genetics : Ejhg. PMID 26813943 DOI: 10.1038/ejhg.2015.276  0.72
2016 Lee FX, Houweling PJ, North KN, Quinlan KG. How does α-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3, the 'gene for speed'. Biochimica Et Biophysica Acta. PMID 26802899 DOI: 10.1016/j.bbamcr.2016.01.013  0.32
2016 Lemckert FA, Bournazos A, Eckert DM, Kenzler M, Hawkes JM, Butler TL, Ceely B, North KN, Winlaw DS, Egan JR, Cooper ST. Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factor. Cardiovascular Research. PMID 26790476 DOI: 10.1093/cvr/cvw017  0.4
2015 Pitsiladis YP, Tanaka M, Eynon N, Bouchard C, North KN, Williams AG, Collins M, Moran CN, Britton SL, Fuku N, Ashley EA, Klissouras V, Lucia A, Ahmetov II, de Geus EJ, et al. The Athlome Project Consortium: A Concerted Effort to Discover Genomic and other "OMIC" Markers of Athletic Performance. Physiological Genomics. physiolgenomics.0010. PMID 26715623 DOI: 10.1152/physiolgenomics.00105.2015  0.4
2015 Hogarth MW, Garton FC, Houweling PJ, Tukiainen T, Lek M, MacArthur DG, Seto JT, Quinlan KG, Yang N, Head SI, North KN. 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. PMID 26681802 DOI: 10.1093/hmg/ddv613  0.4
2015 Webborn N, Williams A, McNamee M, Bouchard C, Pitsiladis Y, Ahmetov I, Ashley E, Byrne N, Camporesi S, Collins M, Dijkstra P, Eynon N, Fuku N, Garton FC, Hoppe N, ... ... North KN, et al. Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement. British Journal of Sports Medicine. 49: 1486-91. PMID 26582191 DOI: 10.1136/bjsports-2015-095343  0.4
2015 Ghaoui R, Cooper ST, Lek M, Jones K, Corbett A, Reddel SW, Needham M, Liang C, Waddell LB, Nicholson G, O'Grady G, Kaur S, Ong R, Davis M, Sue CM, ... ... North KN, et al. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. Jama Neurology. 1-9. PMID 26436962 DOI: 10.1001/jamaneurol.2015.2274  0.4
2015 Yuen M, Cooper ST, Marston SB, Nowak KJ, McNamara E, Mokbel N, Ilkovski B, Ravenscroft G, Rendu J, de Winter JM, Klinge L, Beggs AH, North KN, Ottenheijm CA, Clarke NF. Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. Human Molecular Genetics. PMID 26307083 DOI: 10.1093/hmg/ddv334  0.4
2015 Ilkovski B, Pagnamenta AT, O'Grady GL, Kinoshita T, Howard MF, Lek M, Thomas B, Turner A, Christodoulou J, Sillence D, Knight SJ, Popitsch N, Keays DA, Anzilotti C, Goriely A, ... ... North KN, et al. Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol (GPI) deficiencies. Human Molecular Genetics. PMID 26293662 DOI: 10.1093/hmg/ddv331  0.4
2015 Cabrera-Serrano M, Ghaoui R, Ravenscroft G, Johnsen RD, Davis MR, Corbett A, Reddel S, Sue CM, Liang C, Waddell LB, Kaur S, Lek M, North KN, MacArthur DG, Lamont PJ, et al. Expanding the phenotype of GMPPB mutations. Brain : a Journal of Neurology. 138: 836-44. PMID 25681410 DOI: 10.1093/brain/awv013  0.4
2015 Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, ... ... North KN, et al. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. The Journal of Clinical Investigation. 125: 456-7. PMID 25654555 DOI: 10.1172/JCI80057  0.72
2015 Lorenzo J, Barton B, Arnold SS, North KN. Developmental trajectories of young children with neurofibromatosis type 1: a longitudinal study from 21 to 40 months of age. The Journal of Pediatrics. 166: 1006-12.e1. PMID 25598303 DOI: 10.1016/j.jpeds.2014.12.012  0.4
2015 Head SI, Chan S, Houweling PJ, Quinlan KG, Murphy R, Wagner S, Friedrich O, North KN. Altered Ca2+ kinetics associated with α-actinin-3 deficiency may explain positive selection for ACTN3 null allele in human evolution. Plos Genetics. 11: e1004862. PMID 25590636 DOI: 10.1371/journal.pgen.1004862  0.4
2015 Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzalez MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, ... ... North KN, et al. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain : a Journal of Neurology. 138: 293-310. PMID 25497877 DOI: 10.1093/brain/awu356  0.4
2014 Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, ... ... North KN, et al. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. The Journal of Clinical Investigation. 124: 4693-708. PMID 25250574 DOI: 10.1172/JCI75199  0.4
2014 Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, ... ... North KN, et al. Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. Human Mutation. 35: 779-90. PMID 24692096 DOI: 10.1002/humu.22554  0.4
2014 Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, Béroud C, Mathews KD, Moore SA, Bellini J, Rutkowski A, North KN. Diagnostic approach to the congenital muscular dystrophies. Neuromuscular Disorders : Nmd. 24: 289-311. PMID 24581957 DOI: 10.1016/j.nmd.2013.12.011  0.4
2014 Thomas KC, Zheng XF, Garces Suarez F, Raftery JM, Quinlan KG, Yang N, North KN, Houweling PJ. Evidence based selection of commonly used RT-qPCR reference genes for the analysis of mouse skeletal muscle. Plos One. 9: e88653. PMID 24523926 DOI: 10.1371/journal.pone.0088653  0.4
2014 North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG. Approach to the diagnosis of congenital myopathies. Neuromuscular Disorders : Nmd. 24: 97-116. PMID 24456932 DOI: 10.1016/j.nmd.2013.11.003  0.4
2014 Champion JA, Rose KJ, Payne JM, Burns J, North KN. Relationship between cognitive dysfunction, gait, and motor impairment in children and adolescents with neurofibromatosis type 1. Developmental Medicine and Child Neurology. 56: 468-74. PMID 24387687 DOI: 10.1111/dmcn.12361  0.4
2014 Payne JM, Pickering T, Porter M, Oates EC, Walia N, Prelog K, North KN. Longitudinal assessment of cognition and T2-hyperintensities in NF1: an 18-year study. American Journal of Medical Genetics. Part A. 164: 661-5. PMID 24357578 DOI: 10.1002/ajmg.a.36338  0.4
2014 Sullivan K, El-Hoss J, Quinlan KG, Deo N, Garton F, Seto JT, Gdalevitch M, Turner N, Cooney GJ, Kolanczyk M, North KN, Little DG, Schindeler A. NF1 is a critical regulator of muscle development and metabolism. Human Molecular Genetics. 23: 1250-9. PMID 24163128 DOI: 10.1093/hmg/ddt515  0.4
2014 Pride NA, Korgaonkar MS, Barton B, Payne JM, Vucic S, North KN. The genetic and neuroanatomical basis of social dysfunction: lessons from neurofibromatosis type 1. Human Brain Mapping. 35: 2372-82. PMID 23881898 DOI: 10.1002/hbm.22334  0.4
2013 Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, et al. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. American Journal of Human Genetics. 93: 1108-17. PMID 24268659 DOI: 10.1016/j.ajhg.2013.10.020  0.4
2013 Seto JT, Quinlan KG, Lek M, Zheng XF, Garton F, MacArthur DG, Hogarth MW, Houweling PJ, Gregorevic P, Turner N, Cooney GJ, Yang N, North KN. ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling. The Journal of Clinical Investigation. 123: 4255-63. PMID 24091322 DOI: 10.1172/JCI67691  0.72
2013 Lorenzo J, Barton B, Arnold SS, North KN. Cognitive features that distinguish preschool-age children with neurofibromatosis type 1 from their peers: a matched case-control study. The Journal of Pediatrics. 163: 1479-83.e1. PMID 23910685 DOI: 10.1016/j.jpeds.2013.06.038  0.4
2013 Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, ... ... North KN, et al. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. American Journal of Human Genetics. 93: 29-41. PMID 23768512 DOI: 10.1016/j.ajhg.2013.05.009  0.4
2013 Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, ... ... North KN, et al. Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. American Journal of Human Genetics. 93: 6-18. PMID 23746549 DOI: 10.1016/j.ajhg.2013.05.004  0.4
2013 Eynon N, Hanson ED, Lucia A, Houweling PJ, Garton F, North KN, Bishop DJ. Genes for elite power and sprint performance: ACTN3 leads the way. Sports Medicine (Auckland, N.Z.). 43: 803-17. PMID 23681449 DOI: 10.1007/s40279-013-0059-4  0.4
2013 Oates EC, Rossor AM, Hafezparast M, Gonzalez M, Speziani F, MacArthur DG, Lek M, Cottenie E, Scoto M, Foley AR, Hurles M, Houlden H, Greensmith L, Auer-Grumbach M, Pieber TR, ... ... North KN, et al. Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. American Journal of Human Genetics. 92: 965-73. PMID 23664120 DOI: 10.1016/j.ajhg.2013.04.018  0.4
2013 Lek A, Evesson FJ, Lemckert FA, Redpath GM, Lueders AK, Turnbull L, Whitchurch CB, North KN, Cooper ST. Calpains, cleaved mini-dysferlinC72, and L-type channels underpin calcium-dependent muscle membrane repair. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 33: 5085-94. PMID 23516275 DOI: 10.1523/JNEUROSCI.3560-12.2013  0.4
2013 Clarke NF, Amburgey K, Teener J, Camelo-Piragua S, Kesari A, Punetha J, Waddell LB, Davis M, Laing NG, Monnier N, North KN, Hoffman EP, Dowling JJ. A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies. Neuromuscular Disorders : Nmd. 23: 432-6. PMID 23478172 DOI: 10.1016/j.nmd.2013.02.009  0.4
2013 Oates EC, Payne JM, Foster SL, Clarke NF, North KN. Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge. American Journal of Medical Genetics. Part A. 161: 659-66. PMID 23427176 DOI: 10.1002/ajmg.a.35840  0.4
2013 Mokbel N, Ilkovski B, Kreissl M, Memo M, Jeffries CM, Marttila M, Lehtokari VL, Lemola E, Grönholm M, Yang N, Menard D, Marcorelles P, Echaniz-Laguna A, Reimann J, Vainzof M, ... ... North KN, et al. K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity. Brain : a Journal of Neurology. 136: 494-507. PMID 23378224 DOI: 10.1093/brain/aws348  0.4
2013 Friedlander SM, Herrmann AL, Lowry DP, Mepham ER, Lek M, North KN, Organ CL. ACTN3 allele frequency in humans covaries with global latitudinal gradient. Plos One. 8: e52282. PMID 23359641 DOI: 10.1371/journal.pone.0052282  0.4
2013 Wang G, Mikami E, Chiu LL, DE Perini A, Deason M, Fuku N, Miyachi M, Kaneoka K, Murakami H, Tanaka M, Hsieh LL, Hsieh SS, Caporossi D, Pigozzi F, Hilley A, ... ... North KN, et al. Association analysis of ACE and ACTN3 in elite Caucasian and East Asian swimmers. Medicine and Science in Sports and Exercise. 45: 892-900. PMID 23190598 DOI: 10.1249/MSS.0b013e31827c501f  0.4
2013 Payne JM, Barton B, Shores EA, North KN. Paired associate learning in children with neurofibromatosis type 1: implications for clinical trials. Journal of Neurology. 260: 214-20. PMID 22875098 DOI: 10.1007/s00415-012-6620-5  0.4
2012 Payne JM, Arnold SS, Pride NA, North KN. Does attention-deficit-hyperactivity disorder exacerbate executive dysfunction in children with neurofibromatosis type 1? Developmental Medicine and Child Neurology. 54: 898-904. PMID 22845611 DOI: 10.1111/j.1469-8749.2012.04357.x  0.4
2012 Clarke NF, Waddell LB, Sie LT, van Bon BW, McLean C, Clark D, Kornberg A, Lammens M, North KN. Mutations in TPM2 and congenital fibre type disproportion. Neuromuscular Disorders : Nmd. 22: 955-8. PMID 22832343 DOI: 10.1016/j.nmd.2012.06.002  0.4
2012 Anderson VB, McKenzie JA, Seton C, Fitzgerald DA, Webster RI, North KN, Joffe DA, Young HK. Sniff nasal inspiratory pressure and sleep disordered breathing in childhood neuromuscular disorders Neuromuscular Disorders. 22: 528-533. PMID 22386707 DOI: 10.1016/j.nmd.2012.02.002  0.4
2012 Lek A, Evesson FJ, Sutton RB, North KN, Cooper ST. Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair. Traffic (Copenhagen, Denmark). 13: 185-94. PMID 21838746 DOI: 10.1111/j.1600-0854.2011.01267.x  0.4
2011 Nguyen MA, Joya JE, Kee AJ, Domazetovska A, Yang N, Hook JW, Lemckert FA, Kettle E, Valova VA, Robinson PJ, North KN, Gunning PW, Mitchell CA, Hardeman EC. Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy. Brain : a Journal of Neurology. 134: 3516-29. PMID 22067542 DOI: 10.1093/brain/awr274  0.4
2011 Yang N, Schindeler A, McDonald MM, Seto JT, Houweling PJ, Lek M, Hogarth M, Morse AR, Raftery JM, Balasuriya D, MacArthur DG, Berman Y, Quinlan KG, Eisman JA, Nguyen TV, ... ... North KN, et al. α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse. Bone. 49: 790-8. PMID 21784188 DOI: 10.1016/j.bone.2011.07.009  0.4
2011 Waddell LB, Monnier N, Cooper ST, North KN, Clarke NF. Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes. Muscle & Nerve. 44: 280-2. PMID 21755510 DOI: 10.1002/mus.22118  0.36
2011 Waddell LB, Tran J, Zheng XF, Bönnemann CG, Hu Y, Evesson FJ, Lek M, Arbuckle S, Wang MX, Smith RL, North KN, Clarke NF. A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients. Neuromuscular Disorders : Nmd. 21: 776-81. PMID 21683594 DOI: 10.1016/j.nmd.2011.05.007  0.72
2011 Yiu EM, Klausegger A, Waddell LB, Grasern N, Lloyd L, Tran K, North KN, Bauer JW, McKelvie P, Chow CW, Ryan MM, Murrell DF. Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency. Muscle & Nerve. 44: 135-41. PMID 21674528 DOI: 10.1002/mus.22076  0.4
2011 Seto JT, Lek M, Quinlan KG, Houweling PJ, Zheng XF, Garton F, MacArthur DG, Raftery JM, Garvey SM, Hauser MA, Yang N, Head SI, North KN. Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling. Human Molecular Genetics. 20: 2914-27. PMID 21536590 DOI: 10.1093/hmg/ddr196  0.72
2011 Waddell LB, Lemckert FA, Zheng XF, Tran J, Evesson FJ, Hawkes JM, Lek A, Street NE, Lin P, Clarke NF, Landstrom AP, Ackerman MJ, Weisleder N, Ma J, North KN, et al. Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch. Journal of Neuropathology and Experimental Neurology. 70: 302-13. PMID 21412170 DOI: 10.1097/NEN.0b013e31821350b0  0.4
2011 Bray P, Bundy AC, Ryan MM, North KN, Burns J. Health status of boys with Duchenne muscular dystrophy: a parent's perspective. Journal of Paediatrics and Child Health. 47: 557-62. PMID 21392149 DOI: 10.1111/j.1440-1754.2011.02022.x  0.4
2011 Payne JM, Hyman SL, Shores EA, North KN. Assessment of executive function and attention in children with neurofibromatosis type 1: relationships between cognitive measures and real-world behavior. Child Neuropsychology : a Journal On Normal and Abnormal Development in Childhood and Adolescence. 17: 313-29. PMID 21347908 DOI: 10.1080/09297049.2010.542746  0.4
2011 Lo HP, Bertini E, Mirabella M, Domazetovska A, Dale RC, Petrini S, D'Amico A, Valente EM, Barresi R, Roberts M, Tozzi G, Tasca G, Cooper ST, Straub V, North KN. Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies. Neuromuscular Disorders : Nmd. 21: 194-203. PMID 21295981 DOI: 10.1016/j.nmd.2010.11.015  0.4
2011 Huson SM, Acosta MT, Belzberg AJ, Bernards A, Chernoff J, Cichowski K, Gareth Evans D, Ferner RE, Giovannini M, Korf BR, Listernick R, North KN, Packer RJ, Parada LF, Peltonen J, et al. Back to the future: proceedings from the 2010 NF Conference. American Journal of Medical Genetics. Part A. 155: 307-21. PMID 21271647 DOI: 10.1002/ajmg.a.33804  0.4
2011 Seto JT, Chan S, Turner N, MacArthur DG, Raftery JM, Berman YD, Quinlan KG, Cooney GJ, Head S, Yang N, North KN. The effect of α-actinin-3 deficiency on muscle aging. Experimental Gerontology. 46: 292-302. PMID 21112313 DOI: 10.1016/j.exger.2010.11.006  0.32
2011 Chan S, Seto JT, Houweling PJ, Yang N, North KN, Head SI. Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and female Actn3 knockout mice. Muscle & Nerve. 43: 37-48. PMID 20886650 DOI: 10.1002/mus.21778  0.32
2011 Sangster J, Shores EA, Watt S, North KN. The cognitive profile of preschool-aged children with neurofibromatosis type 1. Child Neuropsychology : a Journal On Normal and Abnormal Development in Childhood and Adolescence. 17: 1-16. PMID 20503125 DOI: 10.1080/09297041003761993  0.4
2010 Tooley LD, Zamurs LK, Beecher N, Baker NL, Peat RA, Adams NE, Bateman JF, North KN, Baldock C, Lamandé SR. Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy. The Journal of Biological Chemistry. 285: 33567-76. PMID 20729548 DOI: 10.1074/jbc.M110.152520  0.4
2010 Lek A, Lek M, North KN, Cooper ST. Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins. Bmc Evolutionary Biology. 10: 231. PMID 20667140 DOI: 10.1186/1471-2148-10-231  0.72
2010 Garton F, Seto JT, North KN, Yang N. Validation of an automated computational method for skeletal muscle fibre morphometry analysis. Neuromuscular Disorders : Nmd. 20: 540-7. PMID 20638845 DOI: 10.1016/j.nmd.2010.06.012  0.32
2010 Evesson FJ, Peat RA, Lek A, Brilot F, Lo HP, Dale RC, Parton RG, North KN, Cooper ST. Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathway. The Journal of Biological Chemistry. 285: 28529-39. PMID 20595382 DOI: 10.1074/jbc.M110.111120  0.36
2010 Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, Kornberg AJ, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King MD, Farrell MA, Marty I, Lunardi J, ... ... North KN, et al. Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Human Mutation. 31: E1544-50. PMID 20583297 DOI: 10.1002/humu.21278  0.4
2010 Waddell LB, Kreissl M, Kornberg A, Kennedy P, McLean C, Labarre-Vila A, Monnier N, North KN, Clarke NF. Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. Neuromuscular Disorders : Nmd. 20: 464-6. PMID 20554445 DOI: 10.1016/j.nmd.2010.05.012  0.4
2010 Lek M, North KN. Are biological sensors modulated by their structural scaffolds? The role of the structural muscle proteins alpha-actinin-2 and alpha-actinin-3 as modulators of biological sensors. Febs Letters. 584: 2974-80. PMID 20515688 DOI: 10.1016/j.febslet.2010.05.059  0.72
2010 Rose KJ, Raymond J, Refshauge K, North KN, Burns J. Serial night casting increases ankle dorsiflexion range in children and young adults with Charcot-Marie-Tooth disease: A randomised trial Journal of Physiotherapy. 56: 113-119. PMID 20482478 DOI: 10.1016/S1836-9553(10)70041-2  0.4
2010 Vandebrouck A, Domazetovska A, Mokbel N, Cooper ST, Ilkovski B, North KN. In vitro analysis of rod composition and actin dynamics in inherited myopathies. Journal of Neuropathology and Experimental Neurology. 69: 429-41. PMID 20418783 DOI: 10.1097/NEN.0b013e3181d892c6  0.36
2010 Susman RD, Quijano-Roy S, Yang N, Webster R, Clarke NF, Dowling J, Kennerson M, Nicholson G, Biancalana V, Ilkovski B, Flanigan KM, Arbuckle S, Malladi C, Robinson P, Vucic S, ... ... North KN, et al. Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscular Disorders : Nmd. 20: 229-37. PMID 20227276 DOI: 10.1016/j.nmd.2010.02.016  0.4
2010 Bray P, Bundy AC, Ryan MM, North KN, Everett A. Health-related quality of life in boys with Duchenne muscular dystrophy: agreement between parents and their sons. Journal of Child Neurology. 25: 1188-94. PMID 20179004 DOI: 10.1177/0883073809357624  0.4
2010 Bray P, Bundy AC, Ryan MM, North KN. Feasibility of a computerized method to measure quality of "everyday" life in children with neuromuscular disorders. Physical & Occupational Therapy in Pediatrics. 30: 43-53. PMID 20170431 DOI: 10.3109/01942630903294687  0.4
2010 Rose KJ, Burns J, Wheeler DM, North KN. Interventions for increasing ankle range of motion in patients with neuromuscular disease Cochrane Database of Systematic Reviews (Online). 2. PMID 20166090 DOI: 10.1002/14651858.CD006973  0.4
2010 Pride N, Payne JM, Webster R, Shores EA, Rae C, North KN. Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1. Journal of Child Neurology. 25: 834-41. PMID 20142468 DOI: 10.1177/0883073809350723  0.4
2010 Quinlan KG, Seto JT, Turner N, Vandebrouck A, Floetenmeyer M, Macarthur DG, Raftery JM, Lek M, Yang N, Parton RG, Cooney GJ, North KN. Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle. Human Molecular Genetics. 19: 1335-46. PMID 20089531 DOI: 10.1093/hmg/ddq010  0.72
2010 Lek M, Quinlan KGR, North KN. The evolution of skeletal muscle performance: Gene duplication and divergence of human sarcomeric α-actinins Bioessays. 32: 17-25. PMID 19967710 DOI: 10.1002/bies.200900110  0.4
2010 Lek M, MacArthur DG, Yang N, North KN. Phylogenetic analysis of gene structure and alternative splicing in alpha-actinins. Molecular Biology and Evolution. 27: 773-80. PMID 19897525 DOI: 10.1093/molbev/msp268  0.72
2010 Rose KJ, Burns J, North KN. Factors associated with foot and ankle strength in healthy preschool-age children and age-matched cases of charcot-marie-tooth disease type 1A Journal of Child Neurology. 25: 463-468. PMID 19671887 DOI: 10.1177/0883073809340698  0.4
2009 Bastiani M, Liu L, Hill MM, Jedrychowski MP, Nixon SJ, Lo HP, Abankwa D, Luetterforst R, Fernandez-Rojo M, Breen MR, Gygi SP, Vinten J, Walser PJ, North KN, Hancock JF, et al. MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes. The Journal of Cell Biology. 185: 1259-73. PMID 19546242 DOI: 10.1083/jcb.200903053  0.4
2009 Liu R, Ginn SL, Lek M, North KN, Alexander IE, Little DG, Schindeler A. Myoblast sensitivity and fibroblast insensitivity to osteogenic conversion by BMP-2 correlates with the expression of Bmpr-1a. Bmc Musculoskeletal Disorders. 10: 51. PMID 19442313 DOI: 10.1186/1471-2474-10-51  0.72
2009 Egan JR, Butler TL, Cole AD, Abraham S, Murala JS, Baines D, Street N, Thompson L, Biecker O, Dittmer J, Cooper S, Au CG, North KN, Winlaw DS. Myocardial membrane injury in pediatric cardiac surgery: An animal model. The Journal of Thoracic and Cardiovascular Surgery. 137: 1154-62. PMID 19379983 DOI: 10.1016/j.jtcvs.2008.10.009  0.4
2008 Amsili S, Zer H, Hinderlich S, Krause S, Becker-Cohen M, MacArthur DG, North KN, Mitrani-Rosenbaum S. UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? Plos One. 3: e2477. PMID 18560563 DOI: 10.1371/journal.pone.0002477  0.32
2008 MacArthur DG, Seto JT, Chan S, Quinlan KG, Raftery JM, Turner N, Nicholson MD, Kee AJ, Hardeman EC, Gunning PW, Cooney GJ, Head SI, Yang N, North KN. An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance. Human Molecular Genetics. 17: 1076-86. PMID 18178581 DOI: 10.1093/hmg/ddm380  0.32
2008 Lo HP, Cooper ST, Evesson FJ, Seto JT, Chiotis M, Tay V, Compton AG, Cairns AG, Corbett A, MacArthur DG, Yang N, Reardon K, North KN. Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscular Disorders : Nmd. 18: 34-44. PMID 17897828 DOI: 10.1016/j.nmd.2007.08.009  0.36
2007 Eisenberg I, Eran A, Nishino I, Moggio M, Lamperti C, Amato AA, Lidov HG, Kang PB, North KN, Mitrani-Rosenbaum S, Flanigan KM, Neely LA, Whitney D, Beggs AH, Kohane IS, et al. Distinctive patterns of microRNA expression in primary muscular disorders. Proceedings of the National Academy of Sciences of the United States of America. 104: 17016-21. PMID 17942673 DOI: 10.1073/pnas.0708115104  0.4
2007 MacArthur DG, Seto JT, Raftery JM, Quinlan KG, Huttley GA, Hook JW, Lemckert FA, Kee AJ, Edwards MR, Berman Y, Hardeman EC, Gunning PW, Easteal S, Yang N, North KN. Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans. Nature Genetics. 39: 1261-5. PMID 17828264 DOI: 10.1038/ng2122  0.32
2007 MacArthur DG, North KN. ACTN3: A genetic influence on muscle function and athletic performance. Exercise and Sport Sciences Reviews. 35: 30-4. PMID 17211191 DOI: 10.1097/JES.0b013e31802d8874  0.32
2005 Macarthur DG, North KN. Genes and human elite athletic performance. Human Genetics. 116: 331-9. PMID 15726413 DOI: 10.1007/s00439-005-1261-8  0.32
2004 MacArthur DG, North KN. A gene for speed? The evolution and function of alpha-actinin-3. Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology. 26: 786-95. PMID 15221860 DOI: 10.1002/bies.20061  0.32
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