Research outputs
2024
Integration of Genetic and Clinical Risk Factors for Risk Classification of Uveitis in Patients With Juvenile Idiopathic Arthritis
Tordoff, M., Smith, S. L., Lawson-Tovey, S., Dick, A. D., Beresford, M. W., Ramanan, A. V., . . . Bowes, J. (2024). Integration of Genetic and Clinical Risk Factors for Risk Classification of Uveitis in Patients With Juvenile Idiopathic Arthritis. ARTHRITIS & RHEUMATOLOGY, 76(12), 1789-1796. doi:10.1002/art.42955
2020
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9
Murphy, L. B., Schreiber-Katz, O., Rafferty, K., Robertson, A., Topf, A., Willis, T. A., . . . Straub, V. (2020). Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9. ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 7(5), 757-766. doi:10.1002/acn3.51042
2014
Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe
Bladen, C. L., Thompson, R., Jackson, J. M., Garland, C., Wegel, C., Ambrosini, A., . . . Lochmueller, H. (2014). Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe. JOURNAL OF NEUROLOGY, 261(1), 152-163. doi:10.1007/s00415-013-7154-1
2013
The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia
Bladen, C. L., Rafferty, K., Straub, V., Monges, S., Moresco, A., Dawkins, H., . . . Lochmueller, H. (2013). The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia. HUMAN MUTATION, 34(11), 1449-1457. doi:10.1002/humu.22390
2012
New patient registries for Myotonic dystrophy and Facioscapulohumeral muscular dystrophy in the United Kingdom
Rafferty, K., Bowler, M., Pohlschmidt, M., Rogers, M., Turner, C., & Lochmueller, H. (2012). New patient registries for Myotonic dystrophy and Facioscapulohumeral muscular dystrophy in the United Kingdom. In NEUROMUSCULAR DISORDERS Vol. 22 (pp. S34). Retrieved from https://www.webofscience.com/
2010
FOR-DMD: double-blind randomized trial to optimize steroid regime in Duchenne Muscular Dystrophy (DMD)
Guglieri, M., Herr, B., McColl, E., Eagle, M., Pandya, S., McDermott, M., . . . Bushby, K. (2010). FOR-DMD: double-blind randomized trial to optimize steroid regime in Duchenne Muscular Dystrophy (DMD). In NEUROMUSCULAR DISORDERS Vol. 20 (pp. 657). doi:10.1016/j.nmd.2010.07.194
2003
A general purpose reporter for cations: absorption, fluorescence and electrochemical sensing of zinc(II)
Benniston, A. C., Harriman, A., Lawrie, D. J., Mayeux, A., Rafferty, K., & Russell, O. D. (2003). A general purpose reporter for cations: absorption, fluorescence and electrochemical sensing of zinc(II). DALTON TRANSACTIONS, (24), 4762-4769. doi:10.1039/b313413j