Search Results - "Ouvrier, Robert"

Development and validation of a novel rating system for scoring standing foot posture: The Foot Posture Index by Redmond, Anthony C., Crosbie, Jack, Ouvrier, Robert A.

“…The limitations of clinical methods for appraising foot posture are well documented. A new measure, the Foot Posture Index is proposed, and its development and…”
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Infectious and autoantibody-associated encephalitis: clinical features and long-term outcome by Pillai, Sekhar C, Hacohen, Yael, Tantsis, Esther, Prelog, Kristina, Merheb, Vera, Kesson, Alison, Barnes, Elizabeth, Gill, Deepak, Webster, Richard, Menezes, Manoj, Ardern-Holmes, Simone, Gupta, Sachin, Procopis, Peter, Troedson, Christopher, Antony, Jayne, Ouvrier, Robert A, Polfrit, Yann, Davies, Nicholas W S, Waters, Patrick, Lang, Bethan, Lim, Ming J, Brilot, Fabienne, Vincent, Angela, Dale, Russell C

“…Pediatric encephalitis has a wide range of etiologies, clinical presentations, and outcomes. This study seeks to classify and characterize infectious,…”
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Phenotypic insights into ADCY5-associated disease by Chang, Florence C.F., Westenberger, Ana, Dale, Russell C., Smith, Martin, Pall, Hardev S., Perez-Dueñas, Belen, Grattan-Smith, Padraic, Ouvrier, Robert A., Mahant, Neil, Hanna, Bernadette C., Hunter, Matthew, Lawson, John A., Max, Christoph, Sachdev, Rani, Meyer, Esther, Crimmins, Dennis, Pryor, Donald, Morris, John G.L., Münchau, Alex, Grozeva, Detelina, Carss, Keren J., Raymond, Lucy, Kurian, Manju A., Klein, Christine, Fung, Victor S.C.

“…ABSTRACT Background Adenylyl cyclase 5 (ADCY5) mutations is associated with heterogenous syndromes: familial dyskinesia and facial myokymia; paroxysmal chorea…”
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Evolution of foot and ankle manifestations in children with CMT1A by Burns, Joshua, Ryan, Monique M., Ouvrier, Robert A.

“…We studied the timing and progression of foot and ankle changes in 81 children with genetically confirmed Charcot–Marie–Tooth disease type 1A (CMT1A) and…”
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Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability by Burns, Joshua, Ouvrier, Robert, Estilow, Tim, Shy, Rosemary, Laurá, Matilde, Pallant, Julie F., Lek, Monkol, Muntoni, Francesco, Reilly, Mary M., Pareyson, Davide, Acsadi, Gyula, Shy, Michael E., Finkel, Richard S.

“…Objective: Charcot–Marie–Tooth disease (CMT) is a common heritable peripheral neuropathy. There is no treatment for any form of CMT, although clinical trials…”
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Peripheral nerve disease secondary to systemic conditions in children by Wilmshurst, Jo M., Ouvrier, Robert A., Ryan, Monique M.

“…This review is an overview of systemic conditions that can be associated with peripheral nervous system dysfunction. Children may present with neuropathic…”
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Eye movement disorders are an early manifestation of CACNA1A mutations in children by Tantsis, Esther M, Gill, Deepak, Griffiths, Lyn, Gupta, Sachin, Lawson, John, Maksemous, Neven, Ouvrier, Robert, Riant, Florence, Smith, Robert, Troedson, Christopher, Webster, Richard, Menezes, Manoj P

“…Aim The alpha‐1 isoform of the calcium channel gene is expressed abundantly in neuronal tissue, especially within the cerebellum. Mutations in this gene may…”
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Ascorbic acid for Charcot–Marie–Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial by Burns, Joshua, PhD, Ouvrier, Robert A, MD, Yiu, Eppie M, MBBS, Joseph, Pathma D, MPharm, Kornberg, Andrew J, MBBS, Fahey, Michael C, PhD, Ryan, Monique M, MMed

“…Summary Background Charcot–Marie–Tooth disease type 1A (CMT1A) is the most common inherited nerve disorder. CMT1A is characterised by peripheral nerve…”
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Conversion Disorder in Australian Pediatric Practice by KOZLOWSKA, KASIA, F.R.A.N.Z.C.P, NUNN, KENNETH P., F.R.A.N.Z.C.P, ROSE, DONNA, M.A, MORRIS, ANNE, F.R.A.C.P, OUVRIER, ROBERT A., M.D, VARGHESE, JOHN, F.R.A.N.Z.C.P

“…ABSTRACT Objectives To describe the incidence and clinical features of children presenting to Australian child health specialists with conversion disorder…”
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Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease by Nafisinia, Michael, Sobreira, Nara, Riley, Lisa, Gold, Wendy, Uhlenberg, Birgit, Weiß, Claudia, Boehm, Corinne, Prelog, Kristina, Ouvrier, Robert, Christodoulou, John

“…Pelizaeus-Merzbacher disease (PMD) is a rare Mendelian disorder characterised by central nervous system hypomyelination. PMD typically manifests in infancy or…”
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Hereditary peripheral neuropathies of childhood: An overview for clinicians by Wilmshurst, Jo M, Ouvrier, Robert

“…Abstract This review focuses on the “pure” hereditary peripheral neuropathies where peripheral nerve disease is the main manifestation and does not address…”
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Peripheral neuropathy associated with mitochondrial disease in children by MENEZES, MANOJ P, OUVRIER, ROBERT A

“…Mitochondrial diseases in children are often associated with a peripheral neuropathy but the presence of the neuropathy is under‐recognized because of the…”
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Pressure characteristics in painful pes cavus feet resulting from Charcot–Marie–Tooth disease by Crosbie, Jack, Burns, Joshua, Ouvrier, Robert A

“…Abstract Charcot–Marie–Tooth (CMT) disease often presents with peripheral muscle imbalance associated with a painful cavus (medial high-arched) foot deformity…”
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Japanese contributions to child neurology – An international perspective by Ouvrier, Robert A

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Paroxysmal tonic upgaze of childhood—a review by Ouvrier, Robert, Billson, Frank

“…Ouvrier and Billson (1988) were apparently the first to describe this entity. In the four original cases, the clinical features were as follows: (1) onset…”
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Effect of Oral Curcumin on Déjérine-Sottas Disease by Burns, Joshua, PhD, Joseph, Pathma D., MPharm, Rose, Kristy J., MHSc, Ryan, Monique M., MMed, Ouvrier, Robert A., MD

“…Curcumin is the newest therapeutic agent for ameliorating the clinical and neuropathologic phenotype of a mouse model of Déjérine-Sottas disease. We undertook…”
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Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1 by de Brouwer, Arjan P.M., Williams, Kelly L., Duley, John A., van Kuilenburg, André B.P., Nabuurs, Sander B., Egmont-Petersen, Michael, Lugtenberg, Dorien, Zoetekouw, Lida, Banning, Martijn J.G., Roeffen, Melissa, Hamel, Ben C.J., Weaving, Linda, Ouvrier, Robert A., Donald, Jennifer A., Wevers, Ron A., Christodoulou, John, van Bokhoven, Hans

“…Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and…”
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Histopathological Findings in Hereditary Motor and Sensory Neuropathy of Axonal Type With Onset in Early Childhood Associated With Mitofusin 2 Mutations by Vallat, Jean-Michel, Ouvrier, Robert A, Pollard, John D, Magdelaine, Corinne, Zhu, Danqing, Nicholson, Garth A, Grew, Simon, Ryan, Monique M, Funalot, Benoît

“…Neuropathologic abnormalities can be sufficiently characteristic to suggest the genetic basis of some hereditary neuropathies such as those associated with…”
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Factors that influence health-related quality of life in Australian adults with Charcot–Marie–Tooth disease by Redmond, Anthony C, Burns, Joshua, Ouvrier, Robert A

“…Abstract Health-related, quality of life (HRQoL) is an important outcome in clinical trials of patients with Charcot–Marie–Tooth disease (CMT). In a…”
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Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4 by Stendel, Claudia, Roos, Andreas, Deconinck, Tine, Pereira, Jorge, Castagner, François, Niemann, Axel, Kirschner, Janbernd, Korinthenberg, Rudolf, Ketelsen, Uwe-Peter, Battaloglu, Esra, Parman, Yesim, Nicholson, Garth, Ouvrier, Robert, Seeger, Jürgen, De Jonghe, Peter, Weis, Joachim, Krüttgen, Alexander, Rudnik-Schöneborn, Sabine, Bergmann, Carsten, Suter, Ueli, Zerres, Klaus, Timmerman, Vincent, Relvas, João B., Senderek, Jan

“…GTPases of the Rho subfamily are widely involved in the myelination of the vertebrate nervous system. Rho GTPase activity is temporally and spatially regulated…”
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