Richard Hugh Roxburgh

Selected publications and creative works (Research Outputs)

  • Wood, L., Bassez, G., Bleyenheuft, C., Campbell, C., Cossette, L., Jimenez-Moreno, A. C., ... Dogan, C. (2018). Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. ORPHANET JOURNAL OF RARE DISEASES, 1310.1186/s13023-018-0889-0
    Other University of Auckland co-authors: Miriam Rodrigues
  • Jones, K. M., O’Grady G, Rodrigues, M. J., Ranta, A., Roxburgh, R. H., Love, D. R., & Theadomon, A. (2018). Impacts for Children Living with Genetic Muscle Disorders and their Parents – Findings from a Population-Based Study. Journal of Neuromuscular Diseases, 1-12. 10.3233/JND-170287
    Other University of Auckland co-authors: Don Love, Miriam Rodrigues
  • Coutelier, M., Hammer, M. B., Stevanin, G., Monin, M.-L., Davoine, C.-S., Mochel, F., ... Gibbs, J. R. (2018). Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes. JAMA Neurology, 75 (5), 591-591. 10.1001/jamaneurol.2017.5121
  • Mulroy, E., Pelosi, L., Leadbetter, R., Joshi, P., Rodrigues, M., Mossman, S., ... Roxburgh, R. (2018). Peripheral nerve ultrasound in Friedreich ataxia. Muscle & nerve, 57 (5), 852-856. 10.1002/mus.26012
    Other University of Auckland co-authors: Miriam Rodrigues
  • Pelosi, L., Mulroy, E., Leadbetter, R., Kilfoyle, D., Chancellor, A. M., Mossman, S., ... Roxburgh, R. H. (2018). Peripheral nerves are pathologically small in cerebellar ataxia neuropathy vestibular areflexia syndrome: a controlled ultrasound study. European Journal of Neurology, 25 (4), 659-665. 10.1111/ene.13563
  • Pelosi, L., Mulroy, E., Rodrigues, M. J., & Roxburgh, R. H. (2017). Neuronopathy and neuropathy in autosomal dominant spino-cerebellar ataxia (SCA): A preliminary peripheral nerve ultrasound study. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, 128 (12), 2436-2437. 10.1016/j.clinph.2017.09.114
    Other University of Auckland co-authors: Miriam Rodrigues
  • Theadom, A., Roxburgh, R., Rodrigues, M., O'Grady G, Love, D., Baker, R., ... Feigin, V. (2017). Unmet needs in adults and children living with genetic muscle disorders. Journal of the Neurological Sciences. 10.1016/j.jns.2017.08.3048
  • Mulroy, E., Ghaoui, R., Hutchinson, D., Rodrigues, M., Lek, M., MacArthur, D. G., ... Roxburgh, R. (2017). A 'limb-girdle muscular dystrophy' responsive to asthma therapy. Practical neurology, 17 (4), 327-331. 10.1136/practneurol-2017-001598
    Other University of Auckland co-authors: Miriam Rodrigues