Browsing by Author Ouvrier, Robert

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Issue DateTitleAuthor(s)Citation
2004Actin Mutations Are One Cause Of Congenital Fibre Type Disproportion.Clarke, Nigel; North, Kathryn; Ouvrier, Robert; Dye, Danielle E; Hagiwara, Tohru; Kobayashi, Yasuaki; Laing, Nigel G; Liyanage, Khema; Nishino, Ichizo; Nonaka, Ikuya; Shimakawa, Shuichi; Sparrow, John C; Walker, Kendall R; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthActin Mutations Are One Cause Of Congenital Fibre Type Disproportion., Annals of Neurology, vol.56,(5),2004,pp 689-694
2007Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1Christodoulou, John; Ouvrier, Robert; Banning, Martijn J G; de Brouwer, Arjan P. M.; Donald, Jennifer A; Duley, John; Egmont-Peterson, Michael; Hamel, Ben C J; Lugtenberg, Dorien; Nabuurs, Sander B; Roeffen, Melissa; van Bokhoven, Hans; van Kuilenburg, Andre B P; Weaving, Linda; Wevers, Ron A.; Williams, Kelly; Zoetekouw, Lida; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthArts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1, American Journal of Human Genetics, vol.81,(3),2007,pp 507-518
2009Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trialBurns, Joshua; Ouvrier, Robert; Fahey, Michael; Joseph, Pathma; Kornberg, Andrew J.; Ryan, Monique; Yiu, Eppie M.; Clinical and Rehabilitation Sciences; Children's Hospital Westmead: Paediatrics & Child HealthAscorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial, Lancet Neurology, vol.8, 6, 2009,pp 537-544
2016Auditory neuropathy in Brown-Vialetto-Van Laere syndrome dueto riboflavin transporter RFVT2 deficiencyMenezes, Manoj; Ouvrier, Robert; Antony, Jayne; Birman, Catherine; Gardner-Berry, Kirsty; Hill, Mandy; O'Brien, Katherine; Webster, Richard; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child HealthAuditory neuropathy in Brown-Vialetto-Van Laere syndrome dueto riboflavin transporter RFVT2 deficiency, Developmental Medicine and Child Neurology, vol.58, 8, 2016,pp 848-854
2002The Australian childhood dementia studyNunn, Kenneth; Ouvrier, Robert; Williams, Katrina; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthThe Australian childhood dementia study, European Child and Adolescent Psychiatry, vol.11, 2,pp 63-70
2007Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhoodOuvrier, Robert; Geevasingha, Nimeshan; Ryan, Monique M.; Children's Hospital Westmead: Paediatrics & Child HealthAutosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood, Muscle & Nerve, vol.36,(2),2007,pp 131-143
2002Brief cognitive screening and self concepts for children with low intellectual functioningBornholt, Laurel; Ouvrier, Robert; Russell, Lesley; School Development & Learning; Children's Hospital Westmead: Paediatrics & Child Health; School Development & LearningBrief cognitive screening and self concepts for children with low intellectual functioning, British Journal of Clinical Psychology, vol.41,(N/A),2002,pp 93-104
2010Cognitive Screening for Children and Adolescents: General Limits or Ceiling Effects?Ouvrier, Robert; Ajersch, Susan; Bornholt, Laurel J.; Fisher, Ian H.; Markham, Roslyn H.; Children's Hospital Westmead: Paediatrics & Child HealthCognitive Screening for Children and Adolescents: General Limits or Ceiling Effects?, Journal of Child Neurology, vol.25, 5,pp 567-571
2004Cognitive Screening For Young Children: Development And Diversity In Learning ContextsBornholt, Laurel; Ouvrier, Robert; Fisher, Ian H.; Spencer, Fiona H.; School Development & Learning; Children's Hospital Westmead: Paediatrics & Child HealthCognitive Screening For Young Children: Development And Diversity In Learning Contexts, Journal of Child Neurology, vol.19,(5),2004,pp 313-317
2009Congenital myasthenic syndromesOuvrier, Robert; Andrews, P. Ian; Kiernan, Matthew C.; Nogajski, Joseph H.; Children's Hospital Westmead: Paediatrics & Child HealthCongenital myasthenic syndromes, Journal of Clinical Neuroscience, vol.16,(1),2009,pp 1-11
2016Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal RegionOuvrier, Robert; Cogne, Benjamin; Devaux, Jerome; Isidor, Bertrand; Magee, A; Magy, Laurent; Mathis, Stephane; Nizon, Mathilde; Pereon, Yann; Richard, Laurence; Vallat, Jean-Michel; Zuchner, Stephan; Childrens Hospital Westmead: Paediatrics & Child HealthContactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region, Journal of Neuropathology and Experimental Neurology, vol.75, 12, 2016,pp 1155-1159
2007Conversion disorder in Australian pediatric practiceKozlowska, Kasia; Morris, Anne; Nunn, Kenneth; Ouvrier, Robert; Rose, Donna; Varghese, John; Children's Hospital Westmead: Psychological Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthConversion disorder in Australian pediatric practice, Journal of the American Academy of Child and Adolescent Psychiatry (2005), vol.46,(1),2007,pp 68-75
2007Critical illness polyneuropathy and myopathy in pediatric intensive care: A reviewGillis, Jonathan; Ouvrier, Robert; Ryan, Monique; Horrocks, IA; Williams, Stephen; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthCritical illness polyneuropathy and myopathy in pediatric intensive care: A review, Pediatric Critical Care Medicine 2005, vol.8,(1),2007,pp 18-22
2006Critical illness polyneuropathy and myopathy in pediatric intensive care: A review.Gillis, Jonathan; Horrocks, Iain; Ouvrier, Robert; Ryan, Monique; Williams, Stephen; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead)Critical illness polyneuropathy and myopathy in pediatric intensive care: A review., Pediatric Critical Care Medicine 2005, vol.8,(1),2006,pp 18-22
2010Determinants of reduced health-related quality of life in pediatric inherited neuropathiesBurns, Joshua; Ouvrier, Robert; Ramchandren, S; Ryan, M; Shy, Michael E; Clinical and Rehabilitation Sciences; Children's Hospital Westmead: Paediatrics & Child HealthDeterminants of reduced health-related quality of life in pediatric inherited neuropathies, Neurology, vol.75, 8,pp 726-731
2006Development and validation of a novel rating system for scoring standing foot posture: The Foot Posture IndexCrosbie, William (Jack); Ouvrier, Robert; Redmond, Anthony; Physiotherapy; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthDevelopment and validation of a novel rating system for scoring standing foot posture: The Foot Posture Index, Clinical Biomechanics (2005), vol.21,(1),2006,pp 89-98
2006Dominant congenital non progressive motor neuron disorderNicholson, Garth; Ouvrier, Robert; Reddel, Stephen; Ryan, Monique; Concord Clinical School: ANZAC Research Institute; Children's Hospital Westmead: Paediatrics & Child Health; Concord Clinical School: ANZAC Research Institute; Children's Hospital Westmead: Paediatrics & Child HealthDominant congenital non progressive motor neuron disorder, Neuromuscular Disorders, vol.16,(Supplement 1),2006,pp S115-S115
2005The effect of pes cavus on foot pain and plantar pressureBurns, Joshua; Crosbie, William (Jack); Hunt, Adrienne; Ouvrier, Robert; Physiotherapy; Physiotherapy; Physiotherapy; Children's Hospital Westmead: Paediatrics & Child HealthThe effect of pes cavus on foot pain and plantar pressure, Clinical Biomechanics (2005), vol.20,(9),2005,pp 877-882
2006Effective orthotic therapy for the painful cavus footBurns, Joshua; Crosbie, William (Jack); Hunt, Adrienne; Ouvrier, Robert; Clinical and Rehabilitation Sciences; Clinical and Rehabilitation Sciences; Physiotherapy; Children's Hospital Westmead: Paediatrics & Child HealthEffective orthotic therapy for the painful cavus foot, Australasian Journal of Podiatric Medicine, vol.40, 3,pp 61-66
2006Effective Orthotic Therapy for the Painful Cavus Foot: A Randomized Controlled TrialBurns, Joshua; Crosbie, William (Jack); Hunt, Adrienne; Ouvrier, Robert; Clinical and Rehabilitation Sciences; Clinical and Rehabilitation Sciences; Exercise Health and Performance; Childrens Hospital Westmead: Paediatrics & Child HealthEffective Orthotic Therapy for the Painful Cavus Foot: A Randomized Controlled Trial, Journal of the American Podiatric Medical Association, vol.96, 3, 2006,pp 205-211