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Emeritus Professor Robert Ouvrier

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

Telephone +61 2 9845 2657
Fax +61 2 9845 3905

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Selected grants

2012

  • Strength training for children with Charcot-Marie-Tooth disease: Help or Harm; Burns J, Refshauge K, Raymond J, Ouvrier R; Muscular Dystrophy Association (USA)/Research Support.
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Selected publications

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Book Chapters

  • Ouvrier, R., Menezes, M. (2014). Giant axonal neuropathy. In Jean-Michel Vallat, Joachim Weis (Eds.), Peripheral Nerve Disorders: Pathology and Genetics, (pp. 142-145). India: Wiley-Blackwell Publishing, Inc.
  • Ouvrier, R., Menezes, M. (2014). Neuroaxonal dystrophy. In Jean-Michel Vallat, Joachim Weis (Eds.), Peripheral Nerve Disorders: Pathology and Genetics, (pp. 146-148). India: Wiley-Blackwell Publishing, Inc.
  • Ouvrier, R., Menezes, M. (2014). Peripheral nerve involvement in neurolipidoses. In Jean-Michel Vallat, Joachim Weis (Eds.), Peripheral Nerve Disorders: Pathology and Genetics, (pp. 149-157). India: Wiley-Blackwell Publishing, Inc.
  • Ryan, M., Pollard, J., Ouvrier, R. (2010). Guillain-Barre Syndrome and Chronic Inflammatory Demyelinating Polyneurpathy in Childhood. In Russell C Dale, Angela Vincent (Eds.), Inflammatory and Autoimmune Disorders of the Nervous System in Children, (pp. 406-430). London: Mac Keith Press.
  • Dey, C., Nunn, K., Ouvrier, R. (2003). Delerium. In Kenneth P. Nunn, Cybele Dey (Eds.), The Clinicians Guide to Psychotropic Prescribing Children and Adolescents, (pp. 128-137). Australia: Child and Adolescent Mental Health Statewide Network.
  • Chance, P., Escolar, D., Redmond, A., Pasqualini, L., Ouvrier, R. (2003). Hereditary neuropathies in late childhood and adolescence. In H. R. Jones, D. C. De Vivo, B. T. Darras (Eds.), Neuromuscular Disorders Of Infancy, Childhood, And Adolescence: A Clinicians Approach, (pp. 398-406). Amsterdam: Butterworth Heinemann.
  • Wilmshurst, J., Ouvrier, R. (2003). Nerve biopsy. In H. R. Jones, D. C. De Vivo, B. T. Darras (Eds.), Neuromuscular Disorders Of Infancy, Childhood, And Adolescence: A Clinicians Approach, (pp. 91-109). Amsterdam: Butterworth Heinemann.
  • Ouvrier, R. (2003). Neuropathies secondary to systemic disorders. In H. R. Jones, D. C. De Vivo, B. T. Darras (Eds.), Neuromuscular Disorders Of Infancy, Childhood, And Adolescence: A Clinicians Approach, (pp. 493-503). Amsterdam: Butterworth Heinemann.
  • Ouvrier, R., Wilmshurst, J. (2003). Polyneuropathies. In H. R. Jones, D. C. De Vivo, B. T. Darras (Eds.), Neuromuscular Disorders Of Infancy, Childhood, And Adolescence: A Clinicians Approach, (pp. 339-359). Amsterdam: Butterworth Heinemann.

Journals

  • Sman, A., Raymond, J., Refshauge, K., Menezes, M., Walker, T., Ouvrier, R., Burns, J. (2014). A randomised, double-blind, sham-controlled trial protocol of progressive resistance strength training for children with Charcot-Marie-Tooth disease. Journal of Physiotherapy, Article in Press.
  • Foley, A., Menezes, M., Pandraud, A., Gonzalez, M., Al-Odaib, A., Abrams, A., Sugano, K., Yonezawa, A., Manzur, A., Burns, J., Carpenter, K., Gold, W., Ouvrier, R., Christodoulou, J., et al (2014). DELETE - DOUBLE ENTRY. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain, 137(1), 44-56. [More Information]
  • 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), 55-55. [More Information]
  • Foley, A., Menezes, M., Pandraud, A., Gonzalez, M., Al-Odaib, A., Abrams, A., Sugano, K., Yonezawa, A., Manzur, A., Burns, J., Wang, M., Carpenter, K., Lek, M., Gold, W., Ouvrier, R., Christodoulou, J., et al (2014). Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain, 137(Pt 1), 44-56. [More Information]
  • Carvill, G., Regan, B., Yendle, S., O’Roak, B., Lozovaya, N., Bruneau, N., Burnashev, N., Khan, A., Cook, J., Geraghty, E., Ouvrier, R., et al (2013). GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nature Genetics, 45(9), 1073-1076. [More Information]
  • 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. [More Information]
  • Menezes, M., Ouvrier, R. (2012). Peripheral neuropathy associated with mitochondrial disease in children. Developmental Medicine and Child Neurology, 54(4), 407-414. [More Information]
  • Burns, J., Ouvrier, R., Estilow, T., Shy, R., Laura, M., Eichinger, K., Muntoni, F., Reilly, M., Pareyson, D., Acsadi, G., et al (2012). Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease. Clinical Biomechanics, 27(7), 744-747. [More Information]
  • Burns, J., Ouvrier, R., Estilow, T., Shy, R., Laura, M., Pallant, J., Lek, M., Muntoni, F., Reilly, M., Pareyson, D., et al (2012). Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability. Annals of Neurology, 71(5), 642-652. [More Information]
  • 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, 461-466. [More Information]
  • 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. [More Information]
  • Ouvrier, R. (2011). Henri Parinaud (1844-1905). Journal of Neurology, 258(8), 1571-1572. [More Information]
  • Wilmshurst, J., Ouvrier, R. (2011). Hereditary peripheral neuropathies of childhood: An overview for clinicians. Neuromuscular Disorders, 21(11), 763-775. [More Information]
  • Ouvrier, R. (2011). Japanese contributions to child neurology - An international perspective. Brain and Development, 34(1), 2-7. [More Information]
  • 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), 2115-2118. [More Information]
  • 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. [More Information]
  • 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. [More Information]
  • Burns, J., Shy, R., Estilow, T., Acsadi, G., Glanzman, A., Ouvrier, R., Muntoni, F., Reilly, M., Shy, M., Finkel, R. (2010). Development and Validation of the Charcot-Marie-Tooth Disease Pediatric (CMTPed) Scale. Neurology, , A259-A259.
  • 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), 328-330. [More Information]
  • Burns, J., Ryan, M., Ouvrier, R. (2010). Quality of Life in Children With Charcot-Marie-Tooth Disease. Journal of Child Neurology, 25(3), 343-347. [More Information]
  • 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 and Nerve, 42(2), 262-267. [More Information]
  • Ouvrier, R. (2010). What can we learn from the history of Charcot-Marie-Tooth disease? Developmental Medicine and Child Neurology, 52(5), 405-406. [More Information]
  • 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. [More Information]
  • Nogajski, J., Kiernan, M., Ouvrier, R., Andrews, P. (2009). Congenital myasthenic syndromes. Journal of Clinical Neuroscience, 16(1), 1-11. [More Information]
  • Burns, J., Joseph, D., Rose, K., Ryan, M., Ouvrier, R. (2009). Effect of Oral Curcumin on Déjérine-Sottas Disease. Pediatric Neurology, 41(4), 305-308. [More Information]
  • Burns, J., Ryan, M., Ouvrier, R. (2009). Evolution of foot and ankle manifestations in children with CMT1A. Muscle and Nerve, 39(2), 158-166. [More Information]
  • Burns, J., Raymond, J., Ouvrier, R. (2009). Feasibility of foot and ankle strength training in childhood Charcot-Marie-Tooth disease. Neuromuscular Disorders, 19(12), 818-821. [More Information]
  • Calvo, J., Funalot, B., Ouvrier, R., Lazaro, L., Toutain, A., De Mas, P., Bouche, P., Gilbert-Dussardier, B., Arne-Bes, M., Carriere, J., et al (2009). Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. JAMA Neurology, 66(12), 1511-1516. [More Information]
  • 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'Academie Nationale de Medecine, 193(1), 151-161. [More Information]
  • 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, 18(7), 530-5. [More Information]
  • 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, 18(8), 619-625. [More Information]
  • Burns, J., Bray, P., Cross, L., North, K., Ouvrier, R., Ryan, M. (2008). Hand involvement in children with Charcot-Marie-Tooth disease type 1A. Neuromuscular Disorders, 18(12), 970-973. [More Information]
  • Ouvrier, R. (2008). Hyperventilation and the Pitt-Hopkins syndrome. Developmental Medicine and Child Neurology, 50(7), 481. [More Information]
  • 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. [More Information]
  • Crosbie, W., Burns, J., Ouvrier, R. (2008). Pressure characteristics in painful pes cavus feet resulting from Charcot-Marie-Tooth disease. Gait and Posture, 28(4), 545-551. [More Information]
  • Rose, K., Burns, J., Ryan, M., Ouvrier, R., North, K. (2008). Reliability of quantifying foot and ankle muscle strength in very young children. Muscle and Nerve, 37(5), 626-631. [More Information]
  • 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, 160-162. [More Information]
  • 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. [More Information]
  • de Brouwer, A., Williams, K., Duley, J., van Kuilenburg, A., Nabuurs, S., Egmont-Peterson, M., Lugtenberg, D., Zoetekouw, L., Banning, M., Roeffen, M., Ouvrier, R., Christodoulou, J., et al (2007). Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1. American Journal of Human Genetics, 81(3), 507-518. [More Information]
  • Ouvrier, R., Geevasingha, N., Ryan, M. (2007). Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood. Muscle and Nerve, 36(2), 131-143. [More Information]
  • Kozlowska, K., Nunn, K., Rose, D., Morris, A., Ouvrier, R., Varghese, J. (2007). Conversion disorder in Australian pediatric practice. Journal of the American Academy of Child and Adolescent Psychiatry, 46(1), 68-75. [More Information]
  • Williams, S., Horrocks, I., Ouvrier, R., Gillis, J., Ryan, M. (2007). Critical illness polyneuropathy and myopathy in pediatric intensive care: A review. Pediatric Critical Care Medicine, 8(1), 18-22. [More Information]
  • Burns, J., Ouvrier, R., Nicholson, G., Ryan, M. (2007). Establishment of the Australasian paediatric Charcot-Marie-Tooth disease registry. Neuromuscular Disorders, 17, 349-350. [More Information]
  • Ouvrier, R. (2007). ICNA: an open door to citizenship of the world. Developmental Medicine and Child Neurology, 49(7), 483. [More Information]
  • Burns, J., Landorf, K., Ryan, M., Crosbie, J., Ouvrier, R. (2007). Interventions for the prevention and treatment of pes cavus (Review). Cochrane Database of Systematic Reviews, (4), 1-18. [More Information]
  • Stendel, C., Roos, A., Deconinck, T., Pereira, J., Castagner, F., Niemann, A., Kirschner, J., Korinthenberg, R., Ketelsen, U., Nicholson, G., Ouvrier, R., et al (2007). Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. American Journal of Human Genetics, 81(1), 158-164. [More Information]
  • DeRoos, S., Ryan, M., Ouvrier, R. (2007). Peripheral neuropathy in cardiofaciocutaneous syndrome. Pediatric Neurology, 36(4), 250-2. [More Information]
  • Rose, K., Burns, J., Ouvrier, R. (2007). Role of stretching in Charcot-Marie-Tooth disease. Europa Eura Medicophysica. [More Information]
  • Williams, S., Horrocks, I., Ouvrier, R., Gillis, J., Ryan, M. (2006). Critical illness polyneuropathy and myopathy in pediatric intensive care: A review. Pediatric Critical Care Medicine, 8(1), 18-22. [More Information]
  • Redmond, A., Crosbie, W., Ouvrier, R. (2006). Development and validation of a novel rating system for scoring standing foot posture: The Foot Posture Index. Clinical Biomechanics, 21(1), 89-98. [More Information]
  • Ryan, M., Reddel, S., Nicholson, G., Ouvrier, R. (2006). Dominant congenital non progressive motor neuron disorder. Neuromuscular Disorders, 16(Supplement 1), S115-S115.
  • Burns, J., Crosbie, W., Ouvrier, R., Hunt, A. (2006). Effective orthotic therapy for the painful cavus foot. Australasian Journal of Podiatric Medicine, 40(3), 61-66.
  • Burns, J., Crosbie, W., Ouvrier, R., Hunt, A. (2006). Effective Orthotic Therapy for the Painful Cavus Foot: A Randomized Controlled Trial. Journal of the American Podiatric Medical Association, 96(3), 205-211. [More Information]
  • Lu, J., Vallat, J., Pollard, J., knoops, B., Ouvrier, R. (2006). Expression of the antioxidant enzyme peroxiredoxin 5 in the human peripheral nervous system. Journal of the Peripheral Nervous System, 11(4), 318-324. [More Information]
  • Burns, J., Landorf, K., Ryan, M., Crosbie, W., Ouvrier, R. (2006). Interventions for the prevention and treatment of pes cavus (Protocol). Cochrane Database of Systematic Reviews, 10.1002/14651858.CD006154(3), 1-5. [More Information]
  • Chiong, M., Marinaki, M., Duley, J., Bennetts, B., Ouvrier, R., Christodoulou, J. (2006). Lesch-Nyhan disease in a 20-year-old man incorrectly described as developing 'cerebral palsy' after general anaesthesia in infancy. Journal of Inherited Metabolic Disease (JIMD), 29(4), 594-DOI 10.1007/s10545-006-0281-4. [More Information]
  • Burns, J., Ouvrier, R. (2006). Pes cavus pathogenesis in Charcot–Marie–Tooth disease type 1A. Brain, 129(7), E50.1-E50.2. [More Information]
  • Bajaj, R., Smith, J., Trochet, D., Pitkin, J., Ouvrier, R., Graf, N., Sillence, D., Kluckow, M. (2005). Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant. Pediatrics, 115(6), e737-e738. [More Information]
  • Ryan, M., Ouvrier, R. (2005). Hereditary peripheral neuropathies of childhood. Current Opinion In Neurology, 18(2), 105-110. [More Information]
  • Burns, J., Redmond, A., Ouvrier, R., Crosbie, J. (2005). Measurement of muscle imbalance in patients with pes cavus and Charcot-Marie-Tooth disease, compared to healthy controls, using hand-held dynamometry. Journal of the Peripheral Nervous System, 10(Suppl), 11-12.
  • Ouvrier, R., Billson, F. (2005). Paroxysmal tonic upgaze of childhood-a review. Brain and Development, 27(3), 185-188. [More Information]
  • Burns, J., Redmond, A., Ouvrier, R., Crosbie, W. (2005). Quantification of Muscle Strength and Imbalance in Neurogenic Pes Cavus, Compared to Health Controls, Using Hand-Held Dynamometry. Foot and Ankle International, 26(7), 540-544. [More Information]
  • Ambler, G., Chaitow, J., Rogers, M., McDonald, D., Ouvrier, R. (2005). Rapid improvement of calcinosis in juvenile dermatomyositis with alendronate therapy. Journal of Rheumatology, 32(9), 1837-1839. [More Information]
  • Burns, J., Crosbie, W., Hunt, A., Ouvrier, R. (2005). The effect of pes cavus on foot pain and plantar pressure. Clinical Biomechanics, 20(9), 877-882. [More Information]
  • Burns, J., Crosbie, W., Hunt, A., Ouvrier, R. (2005). The relationship Between Foot Pain and Plantar Pressure in Neurogenic and Idiopathic Pes Cavus. Journal of the Peripheral Nervous System, 10(Supplement 1), 11.
  • Laing, N., Clarke, N., Dye, D., Liyanage, K., Walker, K., Kobayashi, Y., Shimakawa, S., Hagiwara, T., Ouvrier, R., Sparrow, J., North, K., et al (2004). Actin Mutations Are One Cause Of Congenital Fibre Type Disproportion. Annals of Neurology, 56(5), 689-694.
  • Bornholt, L., Spencer, F., Fisher, I., Ouvrier, R. (2004). Cognitive Screening For Young Children: Development And Diversity In Learning Contexts. Journal of Child Neurology, 19(5), 313-317.
  • Ouvrier, R. (2004). Peripheral Neuropathies In The Young Child. Revue Neurologique, 160(12), 1216-1220.
  • Pollard, J., Ouvrier, R. (2003). Chronic axonal neuropathy with triophosphate isomerase deficiency. Pediatric Neurology, 11, 146-148.
  • Wilmhurst, J., Pollard, J., Nicholson, G., Antony, J., Ouvrier, R. (2003). Peripheral neuropathies of infancy. Developmental Medicine and Child Neurology, 45(6), 408-414. [More Information]
  • Spencer, F., Bornholt, L., Ouvrier, R. (2003). Test Reliability and Stability of Children's Cognitive Functioning. Journal of Child Neurology, 18(1), 5-11.
  • Russell, L., Bornholt, L., Ouvrier, R. (2002). Brief cognitive screening and self concepts for children with low intellectual functioning. British Journal of Clinical Psychology, 41, 93-104.
  • Nicholson, G., Ouvrier, R. (2002). GDAP1 mutations in CMT4: Axonal and demyelinating phenotypes?: The exception ?proves. Neurology, , 1835-1836.
  • Nunn, K., Williams, K., Ouvrier, R. (2002). The Australian childhood dementia study. European Child and Adolescent Psychiatry, 11(2), 63-70. [More Information]
  • Ouvrier, R., Grohmann, M., Scheulke, M., Diers, A., Hoffmann, K., Adams, C., Bertini, E., Leonhardt-Horti, H., Muntoni, F., Pfeufer, A., et al (2001). Mutations in the gene encoding immunoglobulin �-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nature Genetics, 29(1), 75-77.
  • Pamphlett, R., Pollard, J., Ouvrier, R., Wilmshurst, J., Bye,, A., Rittey, C., Adams, C., Hahn, A., Ramsay, D. (2001). Severe infantile axonal neuropathy with respiratory failure. Muscle and Nerve, 24, 760-768.
  • Jones, K., Ouvrier, R., North, K., Morgan, G., Johnston, H., Tobias, V., Wilkinson,, I. (2001). The expanding phenotype of laminin alpha-2 chain (merosin) abnormalities: case series and review. Journal of Medical Genetics, 38, 649-657.
  • Sander, S., Ouvrier, R., McLeod, J., Nicholson, G., Pollard, J. (2000). Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies. Journal of Neurology, Neurosurgery and Psychiatry, 68, 483-488.

Conferences

  • Hawke, F., Chuter, V., Ryan, M., Ouvrier, R., Burns, J. (2013). Calf cramps in children and adults with and without peripheral neuropathy are independently associated with neurological signs and symptoms. 2013 Meeting of the Peripheral Nerve Society, USA: Wiley-Blackwell Publishing, Inc.
  • Sman, A., Raymond, J., Refshauge, K., Menezes, M., Walker, T., Ouvrier, R., Burns, J. (2013). Randomised controlled trial protocol of progressive resistance strength training for children with Charcot-Marie-Tooth Disease. 2013 Meeting of the Peripheral Nerve Society, USA: Wiley-Blackwell Publishing, Inc.
  • Burns, J., Ouvrier, R., Shy, R., Estilow, T., Reilly, M., Acsadi, G., Shy, M., Finkel, R. (2012). Charcot-Marie-Tooth disease Paediatric Scale: validation of an outcome measure of disability. 12th International Child Neurology Congress and the 11th Asian and Oceanian Congress of Child Neurology, UK: Wiley-Blackwell Publishing Ltd.
  • Blyton, F., Ryan, M., Ouvrier, R., Burns, J. (2012). Correlates of calf cramp in children with Charcot-Marie-Tooth disease. 3rd Congress of the International Foot and Ankle Biomechanics Community. BioMed Central.
  • Shy, M., Ouvrier, R., Estilow, T., Laura, M., Pallant, J., Lek, M., Pagliano, E., Moroni, I., Shy, R., Reilly, M., Burns, J., et al (2012). Validation of the Charcot-Marie-Tooth Pediatric Scale as an Outcome Measure of Disability. Inherited Neuropathies Consortium, US: Lippincott Williams & Wilkins.
  • Burns, J., Crosbie, W., Hunt, A., Ouvrier, R. (2006). Effective orthotic therapy for the painful cavus foot: a randomised controlled trial. 10th Emed Scientific Meeting ESM 2006, Germany: Novel GmbH.
  • Burns, J., Crosbie, W., Ouvrier, R., Hunt, A. (2005). Custom foot orthoses for painful pes cavus: a randomised 'sham' controlled trial. 21st Australasian Podiatry Conference 2005, Australia: Australasian Podiatry Council.
  • Burns, J., Crosbie, W., Ouvrier, R., Hunt, A. (2004). The Effect of Pes Cavus on Foot Pain and Plantar Pressure. 9th Emed Scientific Meeting ESM 2004, Germany: Novel GmbH.

2014

  • Sman, A., Raymond, J., Refshauge, K., Menezes, M., Walker, T., Ouvrier, R., Burns, J. (2014). A randomised, double-blind, sham-controlled trial protocol of progressive resistance strength training for children with Charcot-Marie-Tooth disease. Journal of Physiotherapy, Article in Press.
  • Foley, A., Menezes, M., Pandraud, A., Gonzalez, M., Al-Odaib, A., Abrams, A., Sugano, K., Yonezawa, A., Manzur, A., Burns, J., Carpenter, K., Gold, W., Ouvrier, R., Christodoulou, J., et al (2014). DELETE - DOUBLE ENTRY. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain, 137(1), 44-56. [More Information]
  • Ouvrier, R., Menezes, M. (2014). Giant axonal neuropathy. In Jean-Michel Vallat, Joachim Weis (Eds.), Peripheral Nerve Disorders: Pathology and Genetics, (pp. 142-145). India: Wiley-Blackwell Publishing, Inc.
  • Ouvrier, R., Menezes, M. (2014). Neuroaxonal dystrophy. In Jean-Michel Vallat, Joachim Weis (Eds.), Peripheral Nerve Disorders: Pathology and Genetics, (pp. 146-148). India: Wiley-Blackwell Publishing, Inc.
  • Ouvrier, R., Menezes, M. (2014). Peripheral nerve involvement in neurolipidoses. In Jean-Michel Vallat, Joachim Weis (Eds.), Peripheral Nerve Disorders: Pathology and Genetics, (pp. 149-157). India: Wiley-Blackwell Publishing, Inc.
  • 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), 55-55. [More Information]
  • Foley, A., Menezes, M., Pandraud, A., Gonzalez, M., Al-Odaib, A., Abrams, A., Sugano, K., Yonezawa, A., Manzur, A., Burns, J., Wang, M., Carpenter, K., Lek, M., Gold, W., Ouvrier, R., Christodoulou, J., et al (2014). Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain, 137(Pt 1), 44-56. [More Information]

2013

  • Hawke, F., Chuter, V., Ryan, M., Ouvrier, R., Burns, J. (2013). Calf cramps in children and adults with and without peripheral neuropathy are independently associated with neurological signs and symptoms. 2013 Meeting of the Peripheral Nerve Society, USA: Wiley-Blackwell Publishing, Inc.
  • Carvill, G., Regan, B., Yendle, S., O’Roak, B., Lozovaya, N., Bruneau, N., Burnashev, N., Khan, A., Cook, J., Geraghty, E., Ouvrier, R., et al (2013). GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nature Genetics, 45(9), 1073-1076. [More Information]
  • 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. [More Information]
  • Sman, A., Raymond, J., Refshauge, K., Menezes, M., Walker, T., Ouvrier, R., Burns, J. (2013). Randomised controlled trial protocol of progressive resistance strength training for children with Charcot-Marie-Tooth Disease. 2013 Meeting of the Peripheral Nerve Society, USA: Wiley-Blackwell Publishing, Inc.

2012

  • Burns, J., Ouvrier, R., Shy, R., Estilow, T., Reilly, M., Acsadi, G., Shy, M., Finkel, R. (2012). Charcot-Marie-Tooth disease Paediatric Scale: validation of an outcome measure of disability. 12th International Child Neurology Congress and the 11th Asian and Oceanian Congress of Child Neurology, UK: Wiley-Blackwell Publishing Ltd.
  • Blyton, F., Ryan, M., Ouvrier, R., Burns, J. (2012). Correlates of calf cramp in children with Charcot-Marie-Tooth disease. 3rd Congress of the International Foot and Ankle Biomechanics Community. BioMed Central.
  • Menezes, M., Ouvrier, R. (2012). Peripheral neuropathy associated with mitochondrial disease in children. Developmental Medicine and Child Neurology, 54(4), 407-414. [More Information]
  • Burns, J., Ouvrier, R., Estilow, T., Shy, R., Laura, M., Eichinger, K., Muntoni, F., Reilly, M., Pareyson, D., Acsadi, G., et al (2012). Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease. Clinical Biomechanics, 27(7), 744-747. [More Information]
  • Burns, J., Ouvrier, R., Estilow, T., Shy, R., Laura, M., Pallant, J., Lek, M., Muntoni, F., Reilly, M., Pareyson, D., et al (2012). Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability. Annals of Neurology, 71(5), 642-652. [More Information]
  • Shy, M., Ouvrier, R., Estilow, T., Laura, M., Pallant, J., Lek, M., Pagliano, E., Moroni, I., Shy, R., Reilly, M., Burns, J., et al (2012). Validation of the Charcot-Marie-Tooth Pediatric Scale as an Outcome Measure of Disability. Inherited Neuropathies Consortium, US: Lippincott Williams & Wilkins.

2011

  • 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, 461-466. [More Information]
  • 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. [More Information]
  • Ouvrier, R. (2011). Henri Parinaud (1844-1905). Journal of Neurology, 258(8), 1571-1572. [More Information]
  • Wilmshurst, J., Ouvrier, R. (2011). Hereditary peripheral neuropathies of childhood: An overview for clinicians. Neuromuscular Disorders, 21(11), 763-775. [More Information]
  • Ouvrier, R. (2011). Japanese contributions to child neurology - An international perspective. Brain and Development, 34(1), 2-7. [More Information]
  • 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), 2115-2118. [More Information]

2010

  • 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. [More Information]
  • 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. [More Information]
  • Burns, J., Shy, R., Estilow, T., Acsadi, G., Glanzman, A., Ouvrier, R., Muntoni, F., Reilly, M., Shy, M., Finkel, R. (2010). Development and Validation of the Charcot-Marie-Tooth Disease Pediatric (CMTPed) Scale. Neurology, , A259-A259.
  • Ryan, M., Pollard, J., Ouvrier, R. (2010). Guillain-Barre Syndrome and Chronic Inflammatory Demyelinating Polyneurpathy in Childhood. In Russell C Dale, Angela Vincent (Eds.), Inflammatory and Autoimmune Disorders of the Nervous System in Children, (pp. 406-430). London: Mac Keith Press.
  • 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), 328-330. [More Information]
  • Burns, J., Ryan, M., Ouvrier, R. (2010). Quality of Life in Children With Charcot-Marie-Tooth Disease. Journal of Child Neurology, 25(3), 343-347. [More Information]
  • 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 and Nerve, 42(2), 262-267. [More Information]
  • Ouvrier, R. (2010). What can we learn from the history of Charcot-Marie-Tooth disease? Developmental Medicine and Child Neurology, 52(5), 405-406. [More Information]

2009

  • 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. [More Information]
  • Nogajski, J., Kiernan, M., Ouvrier, R., Andrews, P. (2009). Congenital myasthenic syndromes. Journal of Clinical Neuroscience, 16(1), 1-11. [More Information]
  • Burns, J., Joseph, D., Rose, K., Ryan, M., Ouvrier, R. (2009). Effect of Oral Curcumin on Déjérine-Sottas Disease. Pediatric Neurology, 41(4), 305-308. [More Information]
  • Burns, J., Ryan, M., Ouvrier, R. (2009). Evolution of foot and ankle manifestations in children with CMT1A. Muscle and Nerve, 39(2), 158-166. [More Information]
  • Burns, J., Raymond, J., Ouvrier, R. (2009). Feasibility of foot and ankle strength training in childhood Charcot-Marie-Tooth disease. Neuromuscular Disorders, 19(12), 818-821. [More Information]
  • Calvo, J., Funalot, B., Ouvrier, R., Lazaro, L., Toutain, A., De Mas, P., Bouche, P., Gilbert-Dussardier, B., Arne-Bes, M., Carriere, J., et al (2009). Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. JAMA Neurology, 66(12), 1511-1516. [More Information]
  • 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'Academie Nationale de Medecine, 193(1), 151-161. [More Information]

2008

  • 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, 18(7), 530-5. [More Information]
  • 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, 18(8), 619-625. [More Information]
  • Burns, J., Bray, P., Cross, L., North, K., Ouvrier, R., Ryan, M. (2008). Hand involvement in children with Charcot-Marie-Tooth disease type 1A. Neuromuscular Disorders, 18(12), 970-973. [More Information]
  • Ouvrier, R. (2008). Hyperventilation and the Pitt-Hopkins syndrome. Developmental Medicine and Child Neurology, 50(7), 481. [More Information]
  • 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. [More Information]
  • Crosbie, W., Burns, J., Ouvrier, R. (2008). Pressure characteristics in painful pes cavus feet resulting from Charcot-Marie-Tooth disease. Gait and Posture, 28(4), 545-551. [More Information]
  • Rose, K., Burns, J., Ryan, M., Ouvrier, R., North, K. (2008). Reliability of quantifying foot and ankle muscle strength in very young children. Muscle and Nerve, 37(5), 626-631. [More Information]
  • 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, 160-162. [More Information]
  • 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. [More Information]

2007

  • de Brouwer, A., Williams, K., Duley, J., van Kuilenburg, A., Nabuurs, S., Egmont-Peterson, M., Lugtenberg, D., Zoetekouw, L., Banning, M., Roeffen, M., Ouvrier, R., Christodoulou, J., et al (2007). Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1. American Journal of Human Genetics, 81(3), 507-518. [More Information]
  • Ouvrier, R., Geevasingha, N., Ryan, M. (2007). Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood. Muscle and Nerve, 36(2), 131-143. [More Information]
  • Kozlowska, K., Nunn, K., Rose, D., Morris, A., Ouvrier, R., Varghese, J. (2007). Conversion disorder in Australian pediatric practice. Journal of the American Academy of Child and Adolescent Psychiatry, 46(1), 68-75. [More Information]
  • Williams, S., Horrocks, I., Ouvrier, R., Gillis, J., Ryan, M. (2007). Critical illness polyneuropathy and myopathy in pediatric intensive care: A review. Pediatric Critical Care Medicine, 8(1), 18-22. [More Information]
  • Burns, J., Ouvrier, R., Nicholson, G., Ryan, M. (2007). Establishment of the Australasian paediatric Charcot-Marie-Tooth disease registry. Neuromuscular Disorders, 17, 349-350. [More Information]
  • Ouvrier, R. (2007). ICNA: an open door to citizenship of the world. Developmental Medicine and Child Neurology, 49(7), 483. [More Information]
  • Burns, J., Landorf, K., Ryan, M., Crosbie, J., Ouvrier, R. (2007). Interventions for the prevention and treatment of pes cavus (Review). Cochrane Database of Systematic Reviews, (4), 1-18. [More Information]
  • Stendel, C., Roos, A., Deconinck, T., Pereira, J., Castagner, F., Niemann, A., Kirschner, J., Korinthenberg, R., Ketelsen, U., Nicholson, G., Ouvrier, R., et al (2007). Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. American Journal of Human Genetics, 81(1), 158-164. [More Information]
  • DeRoos, S., Ryan, M., Ouvrier, R. (2007). Peripheral neuropathy in cardiofaciocutaneous syndrome. Pediatric Neurology, 36(4), 250-2. [More Information]
  • Rose, K., Burns, J., Ouvrier, R. (2007). Role of stretching in Charcot-Marie-Tooth disease. Europa Eura Medicophysica. [More Information]

2006

  • Williams, S., Horrocks, I., Ouvrier, R., Gillis, J., Ryan, M. (2006). Critical illness polyneuropathy and myopathy in pediatric intensive care: A review. Pediatric Critical Care Medicine, 8(1), 18-22. [More Information]
  • Redmond, A., Crosbie, W., Ouvrier, R. (2006). Development and validation of a novel rating system for scoring standing foot posture: The Foot Posture Index. Clinical Biomechanics, 21(1), 89-98. [More Information]
  • Ryan, M., Reddel, S., Nicholson, G., Ouvrier, R. (2006). Dominant congenital non progressive motor neuron disorder. Neuromuscular Disorders, 16(Supplement 1), S115-S115.
  • Burns, J., Crosbie, W., Ouvrier, R., Hunt, A. (2006). Effective orthotic therapy for the painful cavus foot. Australasian Journal of Podiatric Medicine, 40(3), 61-66.
  • Burns, J., Crosbie, W., Hunt, A., Ouvrier, R. (2006). Effective orthotic therapy for the painful cavus foot: a randomised controlled trial. 10th Emed Scientific Meeting ESM 2006, Germany: Novel GmbH.
  • Burns, J., Crosbie, W., Ouvrier, R., Hunt, A. (2006). Effective Orthotic Therapy for the Painful Cavus Foot: A Randomized Controlled Trial. Journal of the American Podiatric Medical Association, 96(3), 205-211. [More Information]
  • Lu, J., Vallat, J., Pollard, J., knoops, B., Ouvrier, R. (2006). Expression of the antioxidant enzyme peroxiredoxin 5 in the human peripheral nervous system. Journal of the Peripheral Nervous System, 11(4), 318-324. [More Information]
  • Burns, J., Landorf, K., Ryan, M., Crosbie, W., Ouvrier, R. (2006). Interventions for the prevention and treatment of pes cavus (Protocol). Cochrane Database of Systematic Reviews, 10.1002/14651858.CD006154(3), 1-5. [More Information]
  • Chiong, M., Marinaki, M., Duley, J., Bennetts, B., Ouvrier, R., Christodoulou, J. (2006). Lesch-Nyhan disease in a 20-year-old man incorrectly described as developing 'cerebral palsy' after general anaesthesia in infancy. Journal of Inherited Metabolic Disease (JIMD), 29(4), 594-DOI 10.1007/s10545-006-0281-4. [More Information]
  • Burns, J., Ouvrier, R. (2006). Pes cavus pathogenesis in Charcot–Marie–Tooth disease type 1A. Brain, 129(7), E50.1-E50.2. [More Information]

2005

  • Bajaj, R., Smith, J., Trochet, D., Pitkin, J., Ouvrier, R., Graf, N., Sillence, D., Kluckow, M. (2005). Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant. Pediatrics, 115(6), e737-e738. [More Information]
  • Burns, J., Crosbie, W., Ouvrier, R., Hunt, A. (2005). Custom foot orthoses for painful pes cavus: a randomised 'sham' controlled trial. 21st Australasian Podiatry Conference 2005, Australia: Australasian Podiatry Council.
  • Ryan, M., Ouvrier, R. (2005). Hereditary peripheral neuropathies of childhood. Current Opinion In Neurology, 18(2), 105-110. [More Information]
  • Burns, J., Redmond, A., Ouvrier, R., Crosbie, J. (2005). Measurement of muscle imbalance in patients with pes cavus and Charcot-Marie-Tooth disease, compared to healthy controls, using hand-held dynamometry. Journal of the Peripheral Nervous System, 10(Suppl), 11-12.
  • Ouvrier, R., Billson, F. (2005). Paroxysmal tonic upgaze of childhood-a review. Brain and Development, 27(3), 185-188. [More Information]
  • Burns, J., Redmond, A., Ouvrier, R., Crosbie, W. (2005). Quantification of Muscle Strength and Imbalance in Neurogenic Pes Cavus, Compared to Health Controls, Using Hand-Held Dynamometry. Foot and Ankle International, 26(7), 540-544. [More Information]
  • Ambler, G., Chaitow, J., Rogers, M., McDonald, D., Ouvrier, R. (2005). Rapid improvement of calcinosis in juvenile dermatomyositis with alendronate therapy. Journal of Rheumatology, 32(9), 1837-1839. [More Information]
  • Burns, J., Crosbie, W., Hunt, A., Ouvrier, R. (2005). The effect of pes cavus on foot pain and plantar pressure. Clinical Biomechanics, 20(9), 877-882. [More Information]
  • Burns, J., Crosbie, W., Hunt, A., Ouvrier, R. (2005). The relationship Between Foot Pain and Plantar Pressure in Neurogenic and Idiopathic Pes Cavus. Journal of the Peripheral Nervous System, 10(Supplement 1), 11.

2004

  • Laing, N., Clarke, N., Dye, D., Liyanage, K., Walker, K., Kobayashi, Y., Shimakawa, S., Hagiwara, T., Ouvrier, R., Sparrow, J., North, K., et al (2004). Actin Mutations Are One Cause Of Congenital Fibre Type Disproportion. Annals of Neurology, 56(5), 689-694.
  • Bornholt, L., Spencer, F., Fisher, I., Ouvrier, R. (2004). Cognitive Screening For Young Children: Development And Diversity In Learning Contexts. Journal of Child Neurology, 19(5), 313-317.
  • Ouvrier, R. (2004). Peripheral Neuropathies In The Young Child. Revue Neurologique, 160(12), 1216-1220.
  • Burns, J., Crosbie, W., Ouvrier, R., Hunt, A. (2004). The Effect of Pes Cavus on Foot Pain and Plantar Pressure. 9th Emed Scientific Meeting ESM 2004, Germany: Novel GmbH.

2003

  • Pollard, J., Ouvrier, R. (2003). Chronic axonal neuropathy with triophosphate isomerase deficiency. Pediatric Neurology, 11, 146-148.
  • Dey, C., Nunn, K., Ouvrier, R. (2003). Delerium. In Kenneth P. Nunn, Cybele Dey (Eds.), The Clinicians Guide to Psychotropic Prescribing Children and Adolescents, (pp. 128-137). Australia: Child and Adolescent Mental Health Statewide Network.
  • Chance, P., Escolar, D., Redmond, A., Pasqualini, L., Ouvrier, R. (2003). Hereditary neuropathies in late childhood and adolescence. In H. R. Jones, D. C. De Vivo, B. T. Darras (Eds.), Neuromuscular Disorders Of Infancy, Childhood, And Adolescence: A Clinicians Approach, (pp. 398-406). Amsterdam: Butterworth Heinemann.
  • Wilmshurst, J., Ouvrier, R. (2003). Nerve biopsy. In H. R. Jones, D. C. De Vivo, B. T. Darras (Eds.), Neuromuscular Disorders Of Infancy, Childhood, And Adolescence: A Clinicians Approach, (pp. 91-109). Amsterdam: Butterworth Heinemann.
  • Ouvrier, R. (2003). Neuropathies secondary to systemic disorders. In H. R. Jones, D. C. De Vivo, B. T. Darras (Eds.), Neuromuscular Disorders Of Infancy, Childhood, And Adolescence: A Clinicians Approach, (pp. 493-503). Amsterdam: Butterworth Heinemann.
  • Wilmhurst, J., Pollard, J., Nicholson, G., Antony, J., Ouvrier, R. (2003). Peripheral neuropathies of infancy. Developmental Medicine and Child Neurology, 45(6), 408-414. [More Information]
  • Ouvrier, R., Wilmshurst, J. (2003). Polyneuropathies. In H. R. Jones, D. C. De Vivo, B. T. Darras (Eds.), Neuromuscular Disorders Of Infancy, Childhood, And Adolescence: A Clinicians Approach, (pp. 339-359). Amsterdam: Butterworth Heinemann.
  • Spencer, F., Bornholt, L., Ouvrier, R. (2003). Test Reliability and Stability of Children's Cognitive Functioning. Journal of Child Neurology, 18(1), 5-11.

2002

  • Russell, L., Bornholt, L., Ouvrier, R. (2002). Brief cognitive screening and self concepts for children with low intellectual functioning. British Journal of Clinical Psychology, 41, 93-104.
  • Nicholson, G., Ouvrier, R. (2002). GDAP1 mutations in CMT4: Axonal and demyelinating phenotypes?: The exception ?proves. Neurology, , 1835-1836.
  • Nunn, K., Williams, K., Ouvrier, R. (2002). The Australian childhood dementia study. European Child and Adolescent Psychiatry, 11(2), 63-70. [More Information]

2001

  • Ouvrier, R., Grohmann, M., Scheulke, M., Diers, A., Hoffmann, K., Adams, C., Bertini, E., Leonhardt-Horti, H., Muntoni, F., Pfeufer, A., et al (2001). Mutations in the gene encoding immunoglobulin �-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nature Genetics, 29(1), 75-77.
  • Pamphlett, R., Pollard, J., Ouvrier, R., Wilmshurst, J., Bye,, A., Rittey, C., Adams, C., Hahn, A., Ramsay, D. (2001). Severe infantile axonal neuropathy with respiratory failure. Muscle and Nerve, 24, 760-768.
  • Jones, K., Ouvrier, R., North, K., Morgan, G., Johnston, H., Tobias, V., Wilkinson,, I. (2001). The expanding phenotype of laminin alpha-2 chain (merosin) abnormalities: case series and review. Journal of Medical Genetics, 38, 649-657.

2000

  • Sander, S., Ouvrier, R., McLeod, J., Nicholson, G., Pollard, J. (2000). Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies. Journal of Neurology, Neurosurgery and Psychiatry, 68, 483-488.
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