Publications list for Associate Professor Sandra Cooper

2013 | 2012 | 2011 | 2010 | 2009 | 2008


  • Gaignard, P., Menezes, M., Schiff, M., Bayot, A., Rak, M., Ogier de Baulny, H., Su, C., Gilleron, M., Lombes, A., Abida, H., Tzagoloff, A., Riley, L., Cooper, S., Mina, K., Sivadorai, P., Davis, M., Allcock, R., Kresoje, N., Laing, N., Thorburn, D., Slama, A., Christodoulou, J., Rustin, P. (2013), Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia. American Journal of Human Genetics. 93(2), 384-389. [Abstract]
  • Lek, A., Evesson, F., Lemckert, F., Redpath, G., Lueders, A., Turnbull, L., Whitchurch, C., North, K., Cooper, S. (2013), Calpains, Cleaved Mini-DysferlinC72, and L-Type Channels Underpin Calcium-Dependent Muscle Membrane Repair. The Journal of Neuroscience. 33(12), 5085-5094. [Abstract]
  • Riley, L., Menezes, M., Rudinger-Thirion, J., Duff, R., de Lonlay, P., Rotig, A., Tchan, M., Davis, M., Cooper, S., Christodoulou, J. (2013), Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia. Orphanet Journal of Rare Diseases. 8, 193. [Abstract]


  • Menezes, M., Waddell, L., Evesson, F., Cooper, S., Webster, R., Jones, K., Mowat, D., Kiernan, M., Johnston, H., Corbett, A., Harbord, M., North, K., Clarke, N. (2012), Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy. Neurology. 78(16), 1258-1263. [Abstract]
  • Lek, A., Evesson, F., Sutton, R., North, K., Cooper, S. (2012), Ferlins; regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair. Traffic. 13(2), 185-194. [Abstract]
  • Waddell, L., Evesson, F., North, K., Cooper, S., Clarke, N. (2012), Diagnosis of the Muscular Dystrophies. In: Muscular Dystrophy. (pp.261-288).Croatia: InTech.


  • 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]
  • 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]


  • 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]
  • Riley, L., Cooper, S., Hickey, P., Rudinger-Thirion, J., McKenzie, M., Compton, A., Lim, S., Thorburn, D., Ryan, M., Giegé, R., Bahlo, M., Christodoulou, J. (2010), Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia-MLASA Syndrome. American journal of human genetics. 87(1), 52-9. [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]
  • Lek, A., Lek, M., North, K., Cooper, S. (2010), Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins. BMC Evolutionary Biology. 10, 231. [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]


  • 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]
  • 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]
  • 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]