Emeritus Professor Robert Ouvrier OAM

Emeritus Professor
Paediatrics & Child Health, Children's Hospital, Westmead

C29 - Children's Hospital Westmead
The University of Sydney
NSW 2006 Australia

T: +61 2 9845 2657
F: +61 2 9845 3905


2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008


  • Sman, A., Raymond, J., Refshauge, K., Menezes, M., Walker, T., Ouvrier, R., 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. [Abstract]
  • Foley, A., Menezes, M., Pandraud, A., Gonzalez, M., Al-Odaib, A., Abrams, A., Sugano, K., Yonezawa, A., Manzur, A., Burns, J., Hughes, I., McCullagh, B., Jungbluth, H., Lim, M., Lin, J., Megarbane, A., Urtizberea, J., Shah, A., Antony, J., Webster, R., Broomfield, A., Ng, J., Mathew, A., O'Byrne, J., Forman, E., Scoto, M., Prasad, M., O'Brien, K., Olpin, S., Oppenheim, M., Hargreaves, I., Land, J., Wang, M., Carpenter, K., Horvath, R., Straub, V., Lek, M., Gold, W., Farrell, M., Brandner, S., Phadke, R., Matsubara, K., McGarvey, M., Scherer, S., Baxter, P., King, M., Clayton, P., Rahman, S., Reilly, M., Ouvrier, R., Christodoulou, J., Zuchner, S., Muntoni, F., Houlden, H. (2014), Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain. 137(Pt 1), 44-56. [Abstract]


  • McMichael, G., Haan, E., Gardner, A., Yap, T., Thompson, S., Ouvrier, R., Dale, R., Gecz, J., Maclennan, A. (2013), NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy. European Journal of Medical Genetics. 56(9), 506-509. [Abstract]
  • Carvill, G., Regan, B., Yendle, S., O'Roak, B., Lozovaya, N., Bruneau, N., Burnashev, N., Khan, A., Cook, J., Geraghty, E., Sadleir, L., Turner, S., Tsai, M., Webster, R., Ouvrier, R., Damiano, J., Berkovic, S., Shendure, J., Hildebrand, M., Szepetowski, P., Scheffer, I., Mefford, H. (2013), GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nature Genetics. , 1073-1076. [Abstract]


  • Burns, J., Ouvrier, R., Estilow, T., Shy, R., Laur��, M., Eichinger, K., Muntoni, F., Reilly, M., Pareyson, D., Acsadi, G., Shy, M., Finkel, R. (2012), Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease. Clinical Biomechanics. 27(7), 744-747. [Abstract]
  • Menezes, M., Ouvrier, R. (2012), Peripheral neuropathy associated with mitochondrial disease in children. Developmental Medicine and Child Neurology. 54(5), 407-414. [Abstract]
  • Burns, J., Ouvrier, R., Estilow, T., Shy, R., Laur��, M., Pallant, J., Lek, M., Muntoni, F., Reilly, M., Pareyson, D., Acsadi, G., Shy, M., Finkel, R. (2012), Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability. Annals of Neurology. 71(5), 642-652. [Abstract]
  • Ouvrier, R. (2012), Japanese contributions to child neurology - An international perspective. Brain & development. 34, 2-7. [Abstract]


  • Blyton, F., Ryan, M., Ouvrier, R., Burns, J. (2011), Muscle cramp in pediatric Charcot-Marie-Tooth disease type 1A: Prevalence and predictors. Neurology. 77(24), 2115-8. [Abstract]
  • Wilmshurst, J., Ouvrier, R. (2011), Hereditary peripheral neuropathies of childhood: an overview for clinicians. Neuromuscular Disorders. 21(11), 763-775. [Abstract]
  • Burns, J., Ouvrier, R., Yiu, E., Ryan, M. (2011), Extended treatment of childhood Charcot-Marie-Tooth disease with high-dose ascorbic acid. Journal of the Peripheral Nervous System. 16(3), 272-274. [Abstract]
  • Ouvrier, R. (2011), Henri Parinaud (1844-1905). Journal of neurology. 258(8), 1571-2. [Abstract]
  • Yiu, E., Geevasinga, N., Nicholson, G., Fagan, E., Ryan, M., Ouvrier, R. (2011), A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood. Neurology. 76(5), 461-466. [Abstract]


  • Burns, J., Ramchandren, S., Ryan, M., Shy, M., Ouvrier, R. (2010), Determinants of reduced health-related quality of life in pediatric inherited neuropathies. Neurology. 75(8), 726-731. [Abstract]
  • Burns, J., Scheinberg, A., Ryan, M., Rose, K., Ouvrier, R. (2010), Randomized trial of botulinum toxin to prevent pes cavus progression in pediatric charcot-marie-tooth disease type 1A. Muscle & nerve. 42(2), 262-7. [Abstract]
  • Ouvrier, R. (2010), What can we learn from the history of Charcot-Marie-Tooth disease?. Developmental Medicine and Child Neurology. 52(5), 405-406. [Abstract]
  • Ouvrier, R., Grew, S. (2010), Mechanisms of disease and clinical features of mutations of the gene for mitofusin 2: an important cause of hereditary peripheral neuropathy with striking clinical variability in children and adults. Developmental medicine and child neurology. 52(4), 328-30. [Abstract]
  • Burns, J., Ryan, M., Ouvrier, R. (2010), Quality of Life in Children With Charcot-Marie-Tooth Disease. Journal of child neurology. 25(3), 343-7. [Abstract]
  • Ryan, M., Pollard, J., Ouvrier, R. (2010), Guillain-Barre Syndrome and Chronic Inflammatory Demyelinating Polyneurpathy in Childhood. In: Inflammatory and Autoimmune Disorders of the Nervous System in Children. (pp.406-430).London, UK: MacKeith Press.
  • Bornholt, L., Ajersch, S., Fisher, I., Markham, R., Ouvrier, R. (2010), Cognitive Screening for Children and Adolescents: General Limits or Ceiling Effects?. Journal of Child Neurology. 25(5), 567-571. [Abstract]


  • Calvo, J., Funalot, B., Ouvrier, R., Lazaro, L., Toutain, A., De Mas, P., Bouche, P., Gilbert-Dussardier, B., Arne-Bes, M., Carrière, J., Journel, H., Minot-Myhie, M., Guillou, C., Ghorab, K., Magy, L., Sturtz, F., Vallat, J., Magdelaine, C. (2009), Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. Archives of neurology. 66(12), 1511-6. [Abstract]
  • Burns, J., Raymond, J., Ouvrier, R. (2009), Feasibility of foot and ankle strength training in childhood Charcot-Marie-Tooth disease. Neuromuscular disorders : NMD. 19(12), 818-21. [Abstract]
  • Burns, J., Joseph, P., Rose, K., Ryan, M., Ouvrier, R. (2009), Effect of oral curcumin on Déjérine-Sottas disease. Pediatric Neurology. 41(4), 305-308. [Abstract]
  • Burns, J., Ouvrier, R., Yiu, E., Joseph, P., Kornberg, A., Fahey, M., Ryan, M. (2009), Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial. The Lancet Neurology. 8(6), 537-544. [Abstract]
  • Burns, J., Ryan, M., Ouvrier, R. (2009), Evolution of foot and ankle manifestations in children with CMT1A. Muscle & Nerve. 39(2), 158-166. [Abstract]
  • Funalot, B., Magdelaine, C., Sturtz, F., Ouvrier, R., Vallat, J. (2009), [Ultrastructural lesions of axonal mitochondria in patients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations]. Bulletin de L'Académie Nationale de Médecine. 193(1), 151-160. [Abstract]
  • Nogajski, J., Kiernan, M., Ouvrier, R., Andrews, P. (2009), Congenital myasthenic syndromes. Journal of Clinical Neuroscience. 16(1), 1-11. [Abstract]


  • Burns, J., Bray, P., Cross, L., North, K., Ryan, M., Ouvrier, R. (2008), Hand involvement in children with Charcot-Marie-Tooth disease type 1A. Neuromuscular disorders : NMD. 18(0), 970-3. [Abstract]
  • Crosbie, J., Burns, J., Ouvrier, R. (2008), Pressure characteristics in painful pes cavus feet resulting from Charcot-Marie-Tooth disease. Gait & posture. 28(4), 545-51. [Abstract]
  • Vallat, J., Ouvrier, R., Pollard, J., Magdelaine, C., Zhu, D., Nicholson, G., Grew, S., Ryan, M., Funalot, B. (2008), Histopathological Findings in Hereditary Motor and Sensory Neuropathy of Axonal Type With Onset in Early Childhood Associated With Mitofusin 2 Mutations. Journal of neuropathology and experimental neurology. 67(11), 1097-102. [Abstract]
  • Yiu, E., Burns, J., Ryan, M., Ouvrier, R. (2008), Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A. Journal of the peripheral nervous system. 13(3), 236-241. [Abstract]
  • Redmond, A., Burns, J., Ouvrier, R. (2008), Factors that influence health-related quality of life in Australian adults with Charcot-Marie-Tooth disease. Neuromuscular disorders : NMD. 18(8), 619-625. [Abstract]
  • Reddel, S., Ouvrier, R., Nicholson, G., Dierick, I., Irobi, J., Timmerman, V., Ryan, M. (2008), Autosomal dominant congenital spinal muscular atrophy - A possible developmental deficiency of motor neurones?. Neuromuscular disorders : NMD. 18(7), 530-5. [Abstract]
  • Ouvrier, R. (2008), Hyperventilation and the Pitt-Hopkins syndrome. Developmental Medicine and Child Neurology. 50(7), 481. [Abstract]
  • Isbister, G., Burns, J., Prior, F., Ouvrier, R. (2008), Safety of nitrous oxide administration in patients with Charcot-Marie-Tooth disease. Journal of the neurological sciences. 268(0), 160-2. [Abstract]
  • Nicholson, G., Magdelaine, C., Zhu, D., Grew, S., Ryan, M., Sturtz, F., Vallat, J., Ouvrier, R. (2008), Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. Neurology. 70(19), 1678-1681. [Abstract]
  • Rose, K., Burns, J., Ryan, M., Ouvrier, R., North, K. (2008), Reliability of quantifying foot and ankle muscle strength in very young children. Muscle & Nerve. 37(5), 626-631. [Abstract]