2012

• Wang, C., Dowling, J., North, K., Schroth, M., Sejersen, T., Shapiro, F., Bellini, J., Weiss, H., Guillet, M., Amburgey, K., Apkon, S., Bertini, E., Bonnemann, C., Clarke, N., Connolly, A., Estournet-Mathiaud, B., Fitzgerald, D., Florence, J., Gee, R., Gurgel-Giannetti, J., Glanzman, A., Hofmeister, B., Jungbluth, H., Koumbourlis, A., Laing, N., Main, M., Morrison, L., Munns, C., Rose, K., Schuler, P., Sewry, C., Storhaug, K., Vainzof, M., Yuan, N. (2012), Consensus statement on standard of care for congenital myopathies. Journal of Child Neurology. 27(3), 363-382. [Abstract]
• Fitzsimons, D., Jones, D., Barton, B., North, K. (2012), A procedure for the computerised analysis of cleft palate speech transcription. Clinical linguistics & phonetics. 26(1), 18-38. [Abstract]

2011

• Nguyen, M., Joya, J., Kee, A., Domazetovska, A., Yang, N., Hook, J., Lemckert, F., Kettle, E., Valova, V., Robinson, P., North, K., Gunning, P., Mitchell, C., Hardeman, E. (2011), Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy. Brain. 134(Pt 12), 3516-3529. [Abstract]
• North, K. (2011), Clinical approach to the diagnosis of congenital myopathies. Seminars in Pediatric Neurology. 18(4), 216-220. [Abstract]
• Ardern-Holmes, S., North, K. (2011), Therapeutics for Childhood Neurofibromatosis Type 1 and Type 2. Current treatment options in neurology. 13(6), 529-43. [Abstract]
• Ravenscroft, G., Sollis, E., Charles, A., North, K., Baynam, G., Laing, N. (2011), Fetal akinesia: review of the genetics of the neuromuscular causes. Journal of Medical Genetics. 48(12), 793-801. [Abstract]
• Waddell, L., Tran, J., Zheng, X., Bönnemann, C., Hu, Y., Evesson, F., Lek, M., Arbuckle, S., Wang, M., Smith, R., North, K., Clarke, N. (2011), A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients. Neuromuscular disorders : NMD. 21(11), 776-81. [Abstract]
• Yang, N., Schindeler, A., McDonald, M., Seto, J., Houweling, P., Lek, M., Hogarth, M., Morse, A., Raftery, J., Balasuriya, D., Macarthur, D., Berman, Y., Quinlan, K., Eisman, J., Nguyen, T., Center, J., Prince, R., Wilson, S., Zhu, K., Little, D., North, K. (2011), α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse. Bone. 49(4), 790-798. [Abstract]
• Pistilli, E., Bogdanovich, S., Garton, F., Yang, N., Gulbin, J., Conner, J., Anderson, B., Quinn, L., North, K., Ahima, R., Khurana, T. (2011), Loss of IL-15 receptor α alters the endurance, fatigability, and metabolic characteristics of mouse fast skeletal muscles. Journal of Clinical Investigation. 121(8), 3120-3132. [Abstract]
• Seto, J., Lek, M., Quinlan, K., Houweling, P., Zheng, X., Garton, F., Macarthur, D., Raftery, J., Garvey, S., Hauser, M., Yang, N., Head, S., North, K. (2011), Deficiency of {alpha}-Actinin-3 is Associated with Increased Susceptibility to Contraction-Induced Damage and Skeletal Muscle Remodeling. Human molecular genetics. 20(15), 2914-27. [Abstract]
• Bray, P., Bundy, A., Ryan, M., North, K., Burns, J. (2011), Health status of boys with Duchenne muscular dystrophy: A parent's perspective. Journal of paediatrics and child health. 47(8), 557-62. [Abstract]
• Waddell, L., Monnier, N., Cooper, S., North, K., Clarke, N. (2011), Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes. Muscle & Nerve. 44(2), 280-282. [Abstract]
• Yiu, E., Klausegger, A., Waddell, L., Grasern, N., Lloyd, L., Tran, K., North, K., Bauer, J., McKelvie, P., Chow, C., Ryan, M., Murrell, D. (2011), Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency. Muscle & Nerve. 44(1), 135-141. [Abstract]
• Seto, J., Chan, S., Turner, N., Macarthur, D., Raftery, J., Berman, Y., Quinlan, K., Cooney, G., Head, S., Yang, N., North, K. (2011), The effect of α-actinin-3 deficiency on muscle aging. Experimental gerontology. 46(4), 292-302. [Abstract]
• Lorenzo, J., Barton, B., Acosta, M., North, K. (2011), Mental, Motor, and Language Development of Toddlers with Neurofibromatosis Type 1. The Journal of pediatrics. 158(4), 660-5. [Abstract]
• Waddell, L., Lemckert, F., Zheng, X., Tran, J., Evesson, F., Hawkes, J., Lek, A., Street, N., Lin, P., Clarke, N., Landstrom, A., Ackerman, M., Weisleder, N., Ma, J., North, K., Cooper, S. (2011), 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(4), 302-313. [Abstract]
• Lo, H., Bertini, E., Mirabella, M., Domazetovska, A., Dale, R., Petrini, S., D'Amico, A., Valente, E., Barresi, R., Roberts, M., Tozzi, G., Tasca, G., Cooper, S., Straub, V., North, K. (2011), Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies. Neuromuscular disorders : NMD. 21(3), 194-203. [Abstract]
• Au, C., Butler, T., Sherwood, M., Egan, J., North, K., Winlaw, D. (2011), Increased connective tissue growth factor associated with cardiac fibrosis in the mdx mouse model of dystrophic cardiomyopathy. International journal of experimental pathology. 92(1), 57-65. [Abstract]
• Wang, D., Nykanen, M., Yang, N., Winlaw, D., North, K., Verkman, A., Owler, B. (2011), Altered cellular localisation of aquaporin-1 in experimental hydrocephalus in mice and reduced ventriculomegaly in aquaporin-1 deficiency. Molecular and cellular neurosciences. 46(4), 318-24. [Abstract]
• Payne, J., Hyman, S., Shores, E., North, K. (2011), 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(4), 313-29. [Abstract]
• Sangster, J., Shores, E., Watt, S., North, K. (2011), 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), 1-16. [Abstract]
• Chan, S., Seto, J., Houweling, P., Yang, N., North, K., Head, S. (2011), Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and female Actn3 knockout mice. Muscle & nerve. 43, 37-48. [Abstract]
• Koutsopoulos, O., Koch, C., Tosch, V., Böhm, J., North, K., Laporte, J. (2011), Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy. PLoS One. 6(11), e27498. [Abstract]

2010

• Huson, S., Acosta, M., Belzberg, A., Bernards, A., Chernoff, J., Cichowski, K., Gareth Evans, D., Ferner, R., Giovannini, M., Korf, B., Listernick, R., North, K., Packer, R., Parada, L., Peltonen, J., Ramesh, V., Reilly, K., Risner, J., Schorry, E., Upadhyaya, M., Viskochil, D., Zhu, Y., Hunter-Schaedle, K., Giancotti, F. (2010), Back to the future: Proceedings from the 2010 NF Conference. American journal of medical genetics. Part A. (2). [Abstract]
• Sambuughin, N., Yau, K., Olivé, M., Duff, R., Bayarsaikhan, M., Lu, S., Gonzalez-Mera, L., Sivadorai, P., Nowak, K., Ravenscroft, G., Mastaglia, F., North, K., Ilkovski, B., Kremer, H., Lammens, M., van Engelen, B., Fabian, V., Lamont, P., Davis, M., Laing, N., Goldfarb, L. (2010), Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. American Journal of Human Genetics. 87(6), 842-847. [Abstract]
• Tooley, L., Zamurs, L., Beecher, N., Baker, N., Peat, R., Adams, N., Bateman, J., North, K., Baldock, C., Lamande, S. (2010), Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor A-domain mutation in a patient with Ullrich congenital muscular dystrophy. The Journal of biological chemistry. 285(43), 33567-76. [Abstract]
• Bray, P., Bundy, A., Ryan, M., North, K., Everett, A. (2010), Health-related Quality of Life in Boys With Duchenne Muscular Dystrophy: Agreement Between Parents and Their Sons. Journal of child neurology. 25(0), 1188-94. [Abstract]
• Evesson, F., Peat, R., Lek, A., Brilot, F., Lo, H., Dale, R., Parton, R., North, K., Cooper, S. (2010), Reduced plasma membrane expression of dysferlin mutants is due to accelerated endocytosis via a syntaxin-4 associated pathway. The Journal of biological chemistry. 285(37), 28529-39. [Abstract]
• Garton, F., Seto, J., North, K., Yang, N. (2010), Validation of an automated computational method for skeletal muscle fibre morphometry analysis. Neuromuscular disorders : NMD. 20(8), 540-7. [Abstract]
• Berman, Y., North, K. (2010), A Gene for Speed: The Emerging Role of {alpha}-Actinin-3 in Muscle Metabolism. Physiology. 25(4), 250-259. [Abstract]
• Lek, M., North, K. (2010), 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(14), 2974-80. [Abstract]
• Waddell, L., Kreissl, M., Kornberg, A., Kennedy, P., McLean, C., Labarre-Vila, A., Monnier, N., North, K., Clarke, N. (2010), Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. Neuromuscular disorders : NMD. 20(7), 464-6. [Abstract]
• Pride, N., Payne, J., Webster, R., Shores, E., Rae, C., North, K. (2010), Corpus Callosum Morphology and Its Relationship to Cognitive Function in Neurofibromatosis Type 1. Journal of child neurology. 25(7), 834-41. [Abstract]
• Moharir, M., London, K., Howman-Giles, R., North, K. (2010), Utility of positron emission tomography for tumour surveillance in children with neurofibromatosis type 1. European Journal of Nuclear Medicine and Molecular Imaging. 37(7), 1309-1317. [Abstract]
• Clarke, N., Waddell, L., Cooper, S., Perry, M., Smith, R., Kornberg, A., Muntoni, F., Lillis, S., Straub, V., Bushby, K., Guglieri, M., King, M., Farrell, M., Marty, I., Lunardi, J., Monnier, N., North, K. (2010), Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Human mutation. 31(7), E1544-50. [Abstract]
• Vandebrouck, A., Domazetovska, A., Mokbel, N., Cooper, S., Ilkovski, B., North, K. (2010), In Vitro Analysis of Rod Composition and Actin Dynamics in Inherited Myopathies. Journal of neuropathology and experimental neurology. 69(5), 429-41. [Abstract]
• Rose, K., Burns, J., North, K. (2010), 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(4), 463-8. [Abstract]
• Susman, R., Quijano-Roy, S., Yang, N., Webster, R., Clarke, N., Dowling, J., Kennerson, M., Nicholson, G., Biancalana, V., Ilkovski, B., Flanigan, K., Arbuckle, S., Malladi, C., Robinson, P., Vucic, S., Mayer, M., Romero, N., Urtizberea, J., García-Bragado, F., Guicheney, P., Bitoun, M., Carlier, R., North, K. (2010), Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscular Disorders. 20(4), 229-237. [Abstract]
• Quinlan, K., Seto, J., Turner, N., Vandebrouck, A., Floetenmeyer, M., Macarthur, D., Raftery, J., Lek, M., Yang, N., Parton, R., Cooney, G., North, K. (2010), Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle. Human molecular genetics. 19(7), 1335-1346. [Abstract]
• Lek, M., Macarthur, D., Yang, N., North, K. (2010), Phylogenetic analysis of gene structure and alternative splicing in {alpha}-actinins. Molecular biology and evolution. 27(4), 773-80. [Abstract]
• Payne, J., Moharir, M., Webster, R., North, K. (2010), Brain structure and function in neurofibromatosis type 1: current concepts and future directions. Journal of Neurology, Neurosurgery and Psychiatry. 81(3), 304-309. [Abstract]
• Bray, P., Bundy, A., Ryan, M., North, K. (2010), Feasibility of a computerized method to measure quality of "everyday" life in children with neuromuscular disorders. Physical & Occupational Therapy in Pediatrics. 30(1), 43-53. [Abstract]
• Kissil, J., Blakeley, J., Ferner, R., Huson, S., Kalamarides, M., Mautner, V., McCormick, F., Morrison, H., Packer, R., Ramesh, V., Ratner, N., Rauen, K., Stevenson, D., Hunter-Schaedle, K., North, K. (2010), What's new in neurofibromatosis? Proceedings from the 2009 NF Conference: new frontiers. American Journal of Medical Genetics. Part A. 152A(2), 269-283. [Abstract]
• Scott, R., Irving, R., Irwin, L., Morrison, E., Charlton, V., Austin, K., Tladi, D., Deason, M., Headley, S., Kolkhorst, F., Yang, N., North, K., Pitsiladis, Y. (2010), ACTN3 and ACE genotypes in elite Jamaican and US sprinters. Medicine and Science in Sports and Exercise. 42(1), 107-112. [Abstract]
• Rose, K., Burns, J., Wheeler, D., North, K. (2010), Interventions for increasing ankle range of motion in patients with neuromuscular disease. Cochrane Database of Systematic Reviews. 17(2), CD006973. [Abstract]
• Lek, A., Lek, M., North, K., Cooper, S. (2010), Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins. BMC Evolutionary Biology. 10, 231. [Abstract]
• Rose, K., Raymond, J., Refshauge, K., North, K., Burns, J. (2010), Serial night casting increases ankle dorsiflexion range in children and young adults with Charcot-Marie-Tooth disease: a randomised trial. Journal of Physiotherapy. 56(2), 113-119. [Abstract]
• Lek, M., Quinlan, K., North, K. (2010), The evolution of skeletal muscle performance: gene duplication and divergence of human sarcomeric alpha-actinins. BioEssays. 32(1), 17-25. [Abstract]

2009

• Butler, T., Egan, J., Graf, F., Au, C., McMahon, A., North, K., Winlaw, D. (2009), Dysfunction induced by ischemia versus edema: does edema matter?. The Journal of Thoracic and Cardiovascular Surgery. 138(1), 141-147. [Abstract]
• Bastiani, M., Liu, L., Hill, M., Jedrychowski, M., Nixon, S., Lo, H., Abankwa, D., Luetterforst, R., Fernandez-Rojo, M., Breen, M., Gygi, S., Vinten, J., Walser, P., North, K., Hancock, J., Pilch, P., Parton, R. (2009), MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes. The Journal of Cell Biology. 185(7), 1259-1273. [Abstract]
• Clarke, N., Domazetovska, A., Waddell, L., Kornberg, A., McLean, C., North, K. (2009), Cap disease due to mutation of the beta-tropomyosin gene (TPM2). Neuromuscular Disorders. 19(5), 348-351. [Abstract]
• Egan, J., Butler, T., Cole, A., Abraham, S., Murala, J., Baines, D., Street, N., Thompson, L., Biecker, O., Dittmer, J., Cooper, S., Au, C., North, K., Winlaw, D. (2009), Myocardial membrane injury in pediatric cardiac surgery: An animal model. The Journal of Thoracic and Cardiovascular Surgery. 137(5), 1154-1162. [Abstract]
• Rose, K., Burns, J., North, K. (2009), Relationship between foot strength and motor function in preschool-age children. Neuromuscular disorders : NMD. 19(0), 104-7. [Abstract]
• Liu, R., Ginn, S., Lek, M., North, K., Alexander, I., Little, D., Schindeler, A. (2009), Myoblast sensitivity and fibroblast insensitivity to osteogenic conversion by BMP-2 correlates with the expression of Bmpr-1a. BMC musculoskeletal disorders. 10(0), 51. [Abstract]
• North, K., Shield, L. (2009), Muscle Disorders. In: Diseases of the Nervous System in Children. (pp.0).United States: Wiley-Blackwell Publishing, Inc..
• Houweling, P., North, K. (2009), Sarcomeric α-actinins and their role in human muscle disease. Future Neurology. 4(6), 731-743.
• North, K. (2009), Adolescent medicine: towards evidence based practice in a young specialty. In: Challenges in Adolescent Health: An Australian Perspective. (pp.ix-xi).United States: Nova Science Publishers.
• Yang, N., Garton, F., North, K. (2009), alpha-actinin-3 and performance. Medicine and Sport Science. 54, 88-101. [Abstract]

2008

• Compton, A., Albrecht, D., Seto, J., Cooper, S., Ilkovski, B., Jones, K., Challis, D., Mowat, D., Ranscht, B., Bahlo, M., Froehner, S., North, K. (2008), Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy. American journal of human genetics. 83(6), 714-24. [Abstract]
• Burns, J., Bray, P., Cross, L., North, K., Ryan, M., Ouvrier, R. (2008), Hand involvement in children with Charcot-Marie-Tooth disease type 1A. Neuromuscular disorders : NMD. 18(0), 970-3. [Abstract]
• Martin, P., Shelton, G., Dickinson, P., Sturges, B., Xu, R., LeCouteur, R., Guo, L., Grahn, R., Lo, H., North, K., Malik, R., Engvall, E., Lyons, L. (2008), Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex cats. Neuromuscular disorders : NMD. 18(12), 942-52. [Abstract]
• Egan, J., Butler, T., Cole, A., Aharonyan, A., Baines, D., Street, N., Navaratnam, M., Biecker, O., Zazulak, C., Au, C., Tan, Y., North, K., Winlaw, D. (2008), Myocardial ischemia is more important than the effects of cardiopulmonary bypass on myocardial water handling and postoperative dysfunction: A pediatric animal model. The Journal of Thoracic and Cardiovascular Surgery. 136(5), 1265-1273.e2. [Abstract]
• Clement, E., Mercuri, E., Godfrey, C., Smith, J., Robb, S., Kinali, M., Straub, V., Bushby, K., Manzur, A., Talim, B., Cowan, F., Quinlivan, R., Klein, A., Longman, C., McWilliam, R., Topaloglu, H., Mein, R., Abbs, S., North, K., Barkovich, A., Rutherford, M., Muntoni, F. (2008), Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Annals of Neurology. 64(5), 573-582. [Abstract]
• Cairns, A., North, K. (2008), Cerebrovascular Dysplasia in Neurofibromatosis Type 1. Journal of neurology, neurosurgery, and psychiatry. 79(10), 1165-70. [Abstract]
• Chan, S., Seto, J., Macarthur, D., Yang, N., North, K., Head, S. (2008), A gene for speed: contractile properties of isolated whole EDL muscle from an {alpha}-actinin-3 knockout mouse. American journal of physiology. Cell physiology. 295(4), C897-904. [Abstract]
• Pace, R., Peat, R., Baker, N., Zamurs, L., Mörgelin, M., Irving, M., Adams, N., Bateman, J., Mowat, D., Smith, N., Lamont, P., Moore, S., Mathews, K., North, K., Lamandé, S. (2008), Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. Annals of neurology. 64(3), 294-303. [Abstract]
• Au, C., Butler, T., Egan, J., Cooper, S., Lo, H., Compton, A., North, K., Winlaw, D. (2008), Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients. Acta neuropathologica. 116(3), 235-46. [Abstract]
• Ilkovski, B., Mokbel, N., Lewis, R., Walker, K., Nowak, K., Domazetovska, A., Laing, N., Fowler, V., North, K., Cooper, S. (2008), Disease Severity and Thin Filament Regulation in M9R TPM3 Nemaline Myopathy. Journal of neuropathology and experimental neurology. 67(9), 867-77. [Abstract]
• Watt, S., Shores, E., North, K. (2008), An Examination of Lexical and Sublexical Reading Skills in Children with Neurofibromatosis Type 1. Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence. 14(0), 401-18. [Abstract]
• North, K. (2008), Why is alpha-Actinin-3 Deficiency So Common in the General Population? The Evolution of Athletic Performance. Twin Research and Human Genetics. 11(4), 384-394. [Abstract]
• Peat, R., Gécz, J., Fallon, J., Tarpey, P., Smith, R., Futreal, A., Stratton, M., Lamandé, S., Yang, N., North, K. (2008), Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders. Neuromuscular disorders : NMD. 18(8), 606-9. [Abstract]
• Peat, R., Smith, J., Compton, A., Baker, N., Pace, R., Burkin, D., Kaufman, S., Lamandé, S., North, K. (2008), The diagnosis and etiology of congenital muscular dystrophy. Neurology. 71(0), 312-21. [Abstract]
• North, K. (2008), What's new in congenital myopathies?. Neuromuscular disorders : NMD. 18(6), 433-42. [Abstract]
• Ryan, M., Sy, C., Rudge, S., Ellaway, C., Ketteridge, D., Roddick, L., Iannaccone, S., Kornberg, A., North, K. (2008), Dietary L-Tyrosine Supplementation in Nemaline Myopathy. Journal of child neurology. 23(0), 609-13. [Abstract]
• Rose, K., Burns, J., Ryan, M., Ouvrier, R., North, K. (2008), Reliability of quantifying foot and ankle muscle strength in very young children. Muscle & Nerve. 37(5), 626-631. [Abstract]
• MacArthur, D., Seto, J., Chan, S., Quinlan, K., Raftery, J., Turner, N., Nicholson, M., Kee, A., Hardeman, E., Gunning, P., Cooney, G., Head, S., Yang, N., North, K. (2008), An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance. Human Molecular Genetics. 17(8), 1076-1086. [Abstract]
• Clarke, N., Kolski, H., Dye, D., Lim, E., Smith, R., Patel, R., Fahey, M., Bellance, R., Romero, N., Johnson, E., Labarre-Vila, A., Monnier, N., Laing, N., North, K. (2008), Mutations in TPM3 are a common cause of congenital fiber type disproportion. Annals of Neurology. 63(3), 329-337. [Abstract]
• Young, H., Barton, B., Waisbren, S., Portales Dale, L., Ryan, M., Webster, R., North, K. (2008), Cognitive and psychological profile of males with Becker muscular dystrophy. Journal of Child Neurology. 23(2), 155-162. [Abstract]
• North, K., Laing, N. (2008), Skeletal Muscle Alpha-Actin Diseases. In: The Sarcomere and Skeletal Muscle Disease. (pp.15-27).United States: Springer.
• Lo, H., Cooper, S., Evesson, F., Seto, J., Chiotis, M., Tay, V., Compton, A., Cairns, A., Corbett, A., Macarthur, D., Yang, N., Reardon, K., North, K. (2008), Limb-girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscular disorders : NMD. 18(0), 34-44. [Abstract]
• Vlahovich, N., Schevzov, G., Nair-Shaliker, V., Ilkovski, B., Artap, S., Joya, J., Kee, A., North, K., Gunning, P., Hardeman, E. (2008), Tropomyosin 4 defines novel filaments in skeletal muscle associated with muscle remodelling/regeneration in normal and diseased muscle. Cell motility and the cytoskeleton. 65(0), 73-85. [Abstract]
• Amsili, S., Zer, H., Hinderlich, S., Krause, S., Becker-Cohen, M., MacArthur, D., North, K., Mitrani-Rosenbaum, S. (2008), UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle?. PloS one. 3(6), e2477. [Abstract]

2007

• Domazetovska, A., Ilkovski, B., Kumar, V., Valova, V., Vandebrouck, A., Hutchinson, D., Robinson, P., Cooper, S., Sparrow, J., Peckham, M., North, K. (2007), Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. Annals of neurology. 62(6), 597-608. [Abstract]
• Koy, A., Ilkovski, B., Laing, N., North, K., Weis, J., Neuen-Jacob, E., Mayatepek, E., Voit, T. (2007), Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H). Neuropediatrics. 38(6), 282-286. [Abstract]
• Domazetovska, A., Ilkovski, B., Cooper, S., Ghoddusi, M., Hardeman, E., Minamide, L., Gunning, P., Bamburg, J., North, K. (2007), Mechanisms underlying intranuclear rod formation. Brain : a journal of neurology. 130(Pt 12), 3275-84. [Abstract]
• Yang, N., Macarthur, D., Wolde, B., Onywera, V., Boit, M., Lau, S., Wilson, R., Scott, R., Pitsiladis, Y., North, K. (2007), The ACTN3 R577X Polymorphism in East and West African Athletes. Medicine and science in sports and exercise. 39(11), 1985-1988. [Abstract]
• Eisenberg, I., Eran, A., Nishino, I., Moggio, M., Lamperti, C., Amato, A., Lidov, H., Kang, P., North, K., Mitrani-Rosenbaum, S., Flanigan, K., Neely, L., Whitney, D., Beggs, A., Kohane, I., Kunkel, L. (2007), Distinctive patterns of microRNA expression in primary muscular disorders. Proceedings of the National Academy of Sciences of the United States of America. 104(43), 17016-17021. [Abstract]
• Baker, N., Mörgelin, M., Pace, R., Peat, R., Adams, N., Gardner, R., Rowland, L., Miller, G., De Jonghe, P., Ceulemans, B., Hannibal, M., Edwards, M., Thompson, E., Jacobson, R., Quinlivan, R., Aftimos, S., Kornberg, A., North, K., Bateman, J., Lamandé, S. (2007), Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Annals of neurology. 62(4), 390-405. [Abstract]
• Hyman, S., Gill, D., Shores, E., Steinberg, A., North, K. (2007), T2-Hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning. Journal of neurology, neurosurgery, and psychiatry. 78(10), 1088-91. [Abstract]
• Godfrey, C., Clement, E., Mein, R., Brockington, M., Smith, J., Talim, B., Straub, V., Robb, S., Quinlivan, R., Feng, L., Jimenez-Mallebrera, C., Mercuri, E., Manzur, A., Kinali, M., Torelli, S., Brown, S., Sewry, C., Bushby, K., Topaloglu, H., North, K., Abbs, S., Muntoni, F. (2007), Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain : a journal of neurology. 130(pt 10), 2725-35. [Abstract]
• Macarthur, D., Seto, J., Raftery, J., Quinlan, K., Huttley, G., Hook, J., Lemckert, F., Kee, A., Edwards, M., Berman, Y., Hardeman, E., Gunning, P., Easteal, S., Yang, N., North, K. (2007), Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans. Nature genetics. 39(10), 1261-5. [Abstract]
• Peat, R., Baker, N., Jones, K., North, K., Lamandé, S. (2007), Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. Neuromuscular disorders : NMD. 17(7), 547-557. [Abstract]
• Barton, B., North, K. (2007), The self-concept of children and adolescents with neurofibromatosis type 1. Child: care, health and development. 33(4), 401-408. [Abstract]
• Dulai, S., Briody, J., Schindeler, A., North, K., Cowell, C., Little, D. (2007), Decreased bone mineral density in neurofibromatosis type 1: results from a pediatric cohort. Journal of pediatric orthopedics. 27(4), 472-475. [Abstract]
• Clarke, N., Ilkovski, B., Cooper, S., Valova, V., Robinson, P., Nonaka, I., Feng, J., Marston, S., North, K. (2007), The pathogenesis of ACTA1-related congenital fiber type disproportion. Annals of neurology. 61(6), 552-61. [Abstract]
• Cooper, S., Kizana, E., Yates, J., Lo, H., Yang, N., Wu, Z., Alexander, I., North, K. (2007), Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis. Neuromuscular disorders : NMD. 17(4), 276-284. [Abstract]
• Young, H., Lowe, A., Fitzgerald, D., Seton, C., Waters, K., Kenny, E., Hynan, L., Iannaccone, S., North, K., Ryan, M. (2007), Outcome of noninvasive ventilation in children with neuromuscular disease. Neurology. 68(3), 198-201. [Abstract]
• Jamurtas, A., Wilson, R., Pitsiladis, Y., MacArthur, D., Tsiokanos, A., Bailey, M., Yang, N., Moran, C., North, K. (2007), Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. EUROPEAN JOURNAL OF HUMAN GENETICS. 15, 88-93. [Abstract]
• MacArthur, D., North, K. (2007), ACTN3: A genetic influence on muscle function and athletic performance. Exercise and sport sciences reviews. 35(1), 30-34. [Abstract]
• Macarthur, D., North, K. (2007), Genes and human elite athletic performance. In: East African running: toward a cross-disciplinary perspective. (pp.217-233).United States: Routledge.

2006

• Hyman, S., Arthur Shores, E., North, K. (2006), Learning disabilities in children with neurofibromatosis type 1: subtypes, cognitive profile, and attention-deficit-hyperactivity disorder. Developmental medicine and child neurology. 48(12), 973-977. [Abstract]
• Shingde, M., Spring, P., Maxwell, A., Wills, E., Harper, C., Dye, D., Laing, N., North, K. (2006), Myosin storage (hyaline body) myopathy: A case report. Neuromuscular disorders : NMD. 16(12), 882-6. [Abstract]
• Gill, D., Hyman, S., Steinberg, A., North, K. (2006), Age-related findings on MRI in neurofibromatosis type 1. Pediatric radiology. 36, 1048-56. [Abstract]
• Senderek, J., Krieger, M., Stendel, C., North, K., Muntoni, F., Quijano-Roy, S., Ebinger, F., Schroder, J., Voit, T., Weis, J., Topaloglu, H., Zerres, K. (2006), Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy. Neuromuscular Disorders. 16(9-10), 683-683. [Abstract]
• Clarke, N., Gonzalez, V., Kornberg, A., Shield, L., Manson, J., Smith, R., Beggs, A., Arbuckle, S., Bourne, A., Dennett, X., Nonaka, I., Guicheney, P., Ferreiro, A., North, K. (2006), A clinical and pathological study of congenital fibre type disproportion. Neuromuscular Disorders. 16(9-10), 646-646. [Abstract]
• Tay, V., Chiotis, M., Reardon, K., Lo, H., North, K. (2006), The clinical and molecular characterisation of calpain deficiency in patients with neuromuscular disorders. Neuromuscular Disorders. 16(9-10), 695-695. [Abstract]
• Godfrey, C., Mein, R., Brockington, M., Elson, E., Topaloglu, H., Smith, J., Escolar, D., Bertini, E., Merlini, I., Mercuri, E., Bushby, K., Straub, V., North, K., Abbs, S., Muntoni, F. (2006), Molecular genetic analysis of 6 glycosyltransferases in a large population of dystroglycanopathy patients significantly widens the spectrum of phenotypes resulting from POMT1, POMGnT1 and Fukutin mutations. Neuromuscular Disorders. 16(9-10), 683-683. [Abstract]
• Butler, T., Au, C., Yang, B., Egan, J., Tan, Y., Hardeman, E., North, K., Verkman, A., Winlaw, D. (2006), Cardiac aquaporin expression in humans, rats, and mice. American journal of physiology. Heart and circulatory physiology. 291(2), H705-H713. [Abstract]
• Egan, J., Butler, T., Au, C., Tan, Y., North, K., Winlaw, D. (2006), Myocardial water handling and the role of aquaporins. Biochimica et biophysica acta. 1758(8), 1043-52. [Abstract]
• Peat, R., Baker, N., Jones, K., Lamande, S., North, K. (2006), Defining the aetiology of congenital muscular dystrophy in a large cohort. Neuromuscular Disorders. 16, S123-S124. [Abstract]
• Clarke, N., Ilkovski, B., Nonaka, I., Feng, J., Marston, S., North, K. (2006), Investigating the pathogenesis of ACTA1-related congenital fibre type disproportion. Neuromuscular Disorders. 16, S61-S61. [Abstract]
• Macarthur, D., Yang, N., Seto, J., Raftery, J., Kee, A., Hardeman, E., Gunning, P., North, K. (2006), A gene for speed: the ACTN3 R577X polymorphism influences muscle performance. Neuromuscular Disorders. 16, S59-S59. [Abstract]
• Domazetovska, A., Ilkovski, B., Cooper, S., Valova, V., Lemckert, F., Hook, J., Hardeman, E., Robinson, P., Yang, N., Gunning, P., North, K. (2006), Unravelling the thin filament: mechanisms of weakness in inherited muscle disease. Neuromuscular Disorders. 16, S60-S61. [Abstract]
• Ryan, M., Sy, C., Rudge, S., Ellaway, C., Ketteridge, D., Roddick, L., Iannaccone, S., Kornberg, A., Silberstein, J., North, K. (2006), Dietary L-tyrosine supplementation in nemaline myopathy. Neuromuscular Disorders. 16, S88-S88. [Abstract]
• Roberts, H., Day, B., Lo, H., McLean, C., North, K. (2006), Rippling muscle disease. Journal of Clinical Neuroscience. 13(5), 576-578. [Abstract]
• Clarke, N., Kidson, W., Quijano-Roy, S., Estournet, B., Ferreiro, A., Guicheney, P., Manson, J., Kornberg, A., Shield, L., North, K. (2006), SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Annals of neurology. 59(3), 546-52. [Abstract]
• Hutchinson, D., Charlton, A., Laing, N., Ilkovski, B., North, K. (2006), Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: Clinical and pathological variability within a kindred. Neuromuscular Disorders. 16(2), 113-121. [Abstract]
• Cooper, S., North, K. (2006), Protein diagnosis in the dystrophinopathies. In: Duchenne muscular dystrophy: advances in Therapeutics. (pp.105-118).United States: Taylor & Francis Group LLC.
• Hernandez-Deviez, D., Martin, S., Laval, S., Lo, H., Cooper, S., North, K., Bushby, K., Parton, R. (2006), Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. Human Molecular Genetics. 15(1), 129-142. [Abstract]
• Ryan, M., North, K. (2006), Congenital Myopathies. In: Neurological Therapeutics, Principles and Practice. (pp.2607-2618).United Kingdom: Taylor & Francis Group.