Publications list for Dr Sandra Cooper

2012 | 2011 | 2010 | 2009 | 2008 | 2007

2012

   
  • 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.

2011

   
  • 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]

2010

   
  • 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., GiegĂ©, 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]

2009

   
  • 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]

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]
  • 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]
  • 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]
  • 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]

2007

   
  • 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]
  • 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]
  • 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]