Key Publications

Panosyan, F., Laura, M., Rossor, A., Pisciotta, C., Piscosquito, G., Burns, J., Li, J., Yum, S., Lewis, R., Day, J., et al (2017). Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). Neurology, 89(9), 927-935

Wojciechowski, E., Sman, A., Cornett, K., Raymond, J., Refshauge, K., Menezes, M., Burns, J., Cooper, S., North, K., Sandaradura, S., O'Grady, G. (2017). Gait patterns of children and adolescents with Charcot-Marie-Tooth disease. Gait and Posture

Harris, E., Bladen, C., Mayhew, A., James, M., Bettinson, K., Moore, U., Smith, F., Rufibach, L., Cnaan, A., Jones, K., et al (2016). The Clinical Outcome Study for dysferlinopathy: An international multicenter study. Neurology. Genetics, 2(4), 1-10

Cornett, K., Menezes, M., Bray, P., Halaki, M., Shy, R., Yum, S., Estilow, T., Moroni, I., Foscan, M., Pagliano, E., Burns, J., et al (2016). Phenotypic variability of childhood Charcot-Marie-Tooth disease. JAMA Neurology, 73(6), 645-651

Burns J (2015) Children with disability – Charcot-Marie-Tooth Disease. International Journal of Child Health and Human Development 8(4)

Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, et al., Ouvrier RAet al. (2014) Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain 137(Pt 1):44-56

Sman AD, Raymond J, Refshauge KM, Menezes MP, Walker T, Ouvrier RA, Burns J (2014) Randomised controlled trial protocol of foot and ankle exercise for children with Charcot-Marie-Tooth disease. Journal of Physiotherapy 60(1): 55

Mudge A, Bau K, Purcell L, Wu J, Selber P, Axt M, Burns J (2014) Normative reference values for lower limb joint range, bone torsion and alignment in children aged 4-16 years. Journal of Pediatric Orthopaedics B 23(1):15-25

Sman AD, Hiller CE, Imer A, Ocsing A, Burns J, Refshauge KM (2014) Design and reliability of a novel heel rise test measuring device for plantarflexion endurance. Biomed Research International 391646.

Fridman V, Bundy B, Reilly M, Pareyson D, Bacon C, Burns J, et al. (2014) CMT Subtypes and Disease Burden in Patients Enrolled in the Inherited Neuropathies Consortium Natural History Study: A Cross Sectional Analysis. Journal of Neurology, Neurosurgery & Psychiatry

Burns J, Menezes M, Finkel RS, Estilow T, Moroni I, Pagliano E, Laurá M, Muntoni F, Herrmann DN, Eichinger K, Shy R, Pareyson D, Reilly MM, Shy ME (2013) Transitioning outcome measures: Relationship between the CMTPedS and CMTNSv2 in children, adolescents and young adults with Charcot-Marie-Tooth disease. Journal of the Peripheral Nervous System 18(2):177-80

Gascoigne MB, Smith ML, Webster R, Barton B, Gill D, Lah S (2013) Autobiographical memory in children with temporal lobe epilepsy. J Int Neuropsychol Soc 19(10):1076-86