Publications for Robert Ouvrier
Publications for Robert Ouvrier
2016
Sman, A., Raymond, J., Refshauge, K., Menezes,
M., Walker, T., Ouvrier, R., Burns, J. (2016). 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.
Menezes, M., O'Brien, K., Hill, M., Antony, J.,
Ouvrier, R., Birman, C., Gardner-Berry, K.
(2016). Auditory neuropathy in
Brown–Vialetto–Van Laere syndrome dueto
riboflavin transporter RFVT2 de�?ciency.
Developmental Medicine and Child Neurology,
Online First: 25 Feb
2016(doi/10.1111/dmcn.13084). <a
href="http://dx.doi.org/10.1111/dmcn.13084">[
More Information]</a>
Tantsis, E., Gill, D., Griffiths, L., Gupta, S.,
Lawson, J., Maksemous, N., Ouvrier, R., Riant,
F., Smith, R., Troedson, C., Webster, R.,
Menezes, M. (2016). Eye movement disorders
are an early manifestation of CACNA1A
mutations in children. Developmental Medicine
and Child Neurology, Online First: 27 Jan
2016(DOI: 10.1111/dmcn.13033). <a
href="http://dx.doi.org/10.1111/dmcn.13033">[
More Information]</a>
Chen, X., Gill, D., Shaw, P., Ouvrier, R.,
Troedson, C. (2016). Outcome of Early Juvenile
Onset Metachromatic Leukodystrophy After
Unrelated Cord Blood Transplantation: A Case
Series and Review of the Literature. Journal of
Child Neurology, 31(3), 338-344. <a
href="http://dx.doi.org/10.1177/0883073815595
078">[More Information]</a>
Ouvrier, R., Menezes, M. (2014). Neuroaxonal
dystrophy. In Jean-Michel Vallat, Joachim
Weis (Eds.), Peripheral nerve disorders:
pathology and genetics, (pp. 146-148). Oxford,
UK: Wiley-Blackwell Publishing.
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). Oxford, UK:
Wiley-Blackwell Publishing.
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. <a
href="http://dx.doi.org/10.1016/j.jphys.2013.12.0
15">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1093/brain/awt315">[
More Information]</a>
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.
Menezes, M., Farrar, M., Webster, R., Antony,
J., O'Brien, K., Ouvrier, R., Kiernan, M., Burns,
J., Vucic, S. (2016). Pathophysiology of motor
dysfunction in a childhood motor neuron disease
caused by mutations in the riboflavin transporter.
Clinical Neurophysiology, 127(1), 911-918. <a
href="http://dx.doi.org/10.1016/j.clinph.2015.05.
012">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1038/ng.2727">[More
Information]</a>
2015
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. <a
href="http://dx.doi.org/10.1016/j.ejmg.2013.07.0
03">[More Information]</a>
Walker, F., Ouvrier, R. (2015). Seeing big nerves
in small children. Neurology, 84(6), 552-553. <a
href="http://dx.doi.org/10.1212/WNL.00000000
00001243">[More Information]</a>
2014
Ouvrier, R., Menezes, M. (2014). Giant axonal
neuropathy. In Jean-Michel Vallat, Joachim
Weis (Eds.), Peripheral nerve disorders:
pathology and genetics, (pp. 142-145). Oxford,
UK: Wiley-Blackwell Publishing.
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
Publications for Robert Ouvrier
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(5), 407-414. <a
href="http://dx.doi.org/10.1111/j.1469-8749.201
2.04271.x">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1016/j.clinbiomech.20
12.02.006">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1002/ana.23572">[Mo
re Information]</a>
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. <a
href="http://dx.doi.org/10.1212/WNL.0b013e31
820a0ceb">[More Information]</a>
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.
<a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=22003943">[More Information]</a>
Ouvrier, R. (2011). Henri Parinaud (1844-1905).
Journal of Neurology, 258(8), 1571-1572. <a
href="http://dx.doi.org/10.1007/s00415-011-591
9-y">[More Information]</a>
Wilmshurst, J., Ouvrier, R. (2011). Hereditary
peripheral neuropathies of childhood: An
overview for clinicians. Neuromuscular
Disorders, 21(11), 763-775. <a
href="http://dx.doi.org/10.1016/j.nmd.2011.05.0
13">[More Information]</a>
Ouvrier, R. (2011). Japanese contributions to
child neurology - An international perspective.
Brain and Development, 34(1), 2-7. <a
href="http://dx.doi.org/10.1016/j.braindev.2011.
03.005">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1212/WNL.0b013e31
823d76aa">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1177/0883073809352
686">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1212/WNL.0b013e31
81eee496">[More Information]</a>
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
Publications for Robert Ouvrier
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. <a
href="http://dx.doi.org/10.1111/j.1469-8749.201
0.03613.x">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1177/0883073809339
877">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1002/mus.21685">[M
ore Information]</a>
Ouvrier, R. (2010). What can we learn from the
history of Charcot-Marie-Tooth disease?
Developmental Medicine and Child Neurology,
52(5), 405-406. <a
href="http://dx.doi.org/10.1111/j.1469-8749.201
0.03675.x">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1016/S1474-4422(09)
70108-5">[More Information]</a>
Nogajski, J., Kiernan, M., Ouvrier, R., Andrews,
P. (2009). Congenital myasthenic syndromes.
Journal of Clinical Neuroscience, 16(1), 1-11. <a
href="http://dx.doi.org/10.1016/j.jocn.2008.05.0
01">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1016/j.pediatrneurol.2
009.04.030">[More Information]</a>
Burns, J., Ryan, M., Ouvrier, R. (2009).
Evolution of foot and ankle manifestations in
children with CMT1A. Muscle and Nerve, 39(2),
158-166. <a
href="http://dx.doi.org/10.1002/mus.21140">[M
ore Information]</a>
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. <a
href="http://dx.doi.org/10.1016/j.nmd.2009.09.0
07">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1001/archneurol.2009.
284">[More Information]</a>
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. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=19718987">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1016/j.nmd.2008.04.0
16">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1016/j.nmd.2008.05.0
15">[More Information]</a>
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.
<a
href="http://dx.doi.org/10.1016/j.nmd.2008.08.0
04">[More Information]</a>
Ouvrier, R. (2008). Hyperventilation and the
Pitt-Hopkins syndrome. Developmental Medicine
and Child Neurology, 50(7), 481. <a
href="http://dx.doi.org/10.1111/j.1469-8749.200
8.03022.x">[More Information]</a>
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.
<a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=18844790">[More Information]</a>
Crosbie, W., Burns, J., Ouvrier, R. (2008).
Publications for Robert Ouvrier
Pressure characteristics in painful pes cavus feet
resulting from Charcot-Marie-Tooth disease.
Gait and Posture, 28(4), 545-551. <a
href="http://dx.doi.org/10.1016/j.gaitpost.2008.0
3.011">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1002/mus.20961">[M
ore Information]</a>
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. <a
href="http://dx.doi.org/10.1016/j.jns.2007.12.004
">[More Information]</a>
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.
<a
href="http://dx.doi.org/10.1212/01.wnl.0000311
275.89032.22">[More Information]</a>
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. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17701896">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1002/mus.20776">[M
ore Information]</a>
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. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17195731">[More Information]</a>
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. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17251877">[More Information]</a>
Burns, J., Ouvrier, R., Nicholson, G., Ryan, M.
(2007). Establishment of the Australasian
paediatric Charcot-Marie-Tooth disease registry.
Neuromuscular Disorders, 17, 349-350. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17416318">[More Information]</a>
Ouvrier, R. (2007). ICNA: an open door to
citizenship of the world. Developmental
Medicine and Child Neurology, 49(7), 483. <a
href="http://dx.doi.org/10.1111/j.1469-8749.200
7.00483.x">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1002/14651858.CD00
6154.pub2">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1086/518770">[More
Information]</a>
DeRoos, S., Ryan, M., Ouvrier, R. (2007).
Peripheral neuropathy in cardiofaciocutaneous
syndrome. Pediatric Neurology, 36(4), 250-2. <a
href="http://dx.doi.org/10.1016/j.pediatrneurol.2
006.12.004">[More Information]</a>
Rose, K., Burns, J., Ouvrier, R. (2007). Role of
stretching in Charcot-Marie-Tooth disease.
Europa Eura Medicophysica. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=18084182">[More Information]</a>
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. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17149152">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1016/j.clinbiomech.20
Publications for Robert Ouvrier
05.08.002">[More Information]</a>
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. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16707631">[More Information]</a>
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. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17117940">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1002/14651858.CD00
6154">[More Information]</a>
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. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16826447">[More Information]</a>
Burns, J., Ouvrier, R. (2006). Pes cavus
pathogenesis in Charcot–Marie–Tooth disease
type 1A. Brain, 129(7), E50.1-E50.2. <a
href="http://dx.doi.org/10.1093/brain/awl116">[
More Information]</a>
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. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=15930201">[More Information]</a>
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. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=15791138">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1016/j.braindev.2004.
02.016">[More Information]</a>
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. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16045845">[More Information]</a>
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. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16142885">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1016/j.clinbiomech.20
05.03.006">[More Information]</a>
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
Publications for Robert Ouvrier
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.
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
Ouvrier, R. (2004). Peripheral Neuropathies In
The Young Child. Revue Neurologique, 160(12),
1216-1220.
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.
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.
Nicholson, G., Ouvrier, R. (2002). GDAP1
mutations in CMT4: Axonal and demyelinating
phenotypes?: The exception ?proves. Neurology,
, 1835-1836.
2003
Nunn, K., Williams, K., Ouvrier, R. (2002). The
Australian childhood dementia study. European
Child and Adolescent Psychiatry, 11(2), 63-70.
<a
href="http://dx.doi.org/10.1007/s007870200012"
>[More Information]</a>
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. <a
href="http://dx.doi.org/10.1017/S001216220300
0768">[More Information]</a>
Ouvrier, R., Wilmshurst, J. (2003).
Polyneuropathies. In H. R. Jones, D. C. De
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.