420 results on '"Ouvrier, Robert A"'
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2. Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease
3. Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter
4. NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy
5. Conversion Disorder in Australian Pediatric Practice
6. Natural history of Charcot‐Marie‐Tooth disease during childhood
7. Hereditary peripheral neuropathies of childhood: An overview for clinicians
8. Eye movement disorders are an early manifestation of CACNA1A mutations in children
9. List of Contributors
10. Neuropathies Secondary to Systemic Disorders
11. Ascorbic acid for Charcot–Marie–Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial
12. Congenital myasthenic syndromes
13. Anomalies ultrastructurales des mitochondries axonales chez des patients atteints de formes précoces de maladie de Charcot-Marie-Tooth dues à des mutations de la mitofusine 2
14. Peripheral nerve involvement in neurolipidoses
15. Neuroaxonal dystrophy
16. Giant axonal neuropathy
17. 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
18. Pressure characteristics in painful pes cavus feet resulting from Charcot–Marie–Tooth disease
19. Hand involvement in children with Charcot–Marie-Tooth disease type 1A
20. Factors that influence health-related quality of life in Australian adults with Charcot–Marie–Tooth disease
21. Safety of nitrous oxide administration in patients with Charcot-Marie-Tooth disease
22. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2
23. Correlates of calf cramp in children with Charcot-Marie-Tooth disease
24. Arts syndrome is caused by loss-of-function mutations in PRPS1
25. Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4
26. Development, reliability and validity of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS)
27. Calf cramp in children with Charcot-Marie-Tooth disease: searching for therapeutic targets
28. Peripheral Neuropathies
29. Contributors
30. Evolution of foot manifestations in children with Charcot-Marie-Tooth disease
31. Development and validation of a novel rating system for scoring standing foot posture: The Foot Posture Index
32. Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease
33. Peripheral neuropathy associated with mitochondrial disease in children
34. Validation of the Charcot–Marie–Tooth Disease Pediatric Scale as an Outcome Measure of Disability
35. Extended treatment of childhood Charcot-Marie-Tooth disease with high-dose ascorbic acid
36. RANDOMIZED TRIAL OF BOTULINUM TOXIN TO PREVENT PES CAVUS PROGRESSION IN PEDIATRIC CHARCOT–MARIE–TOOTH DISEASE TYPE 1A
37. What can we learn from the history of Charcot-Marie-Tooth disease?
38. Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Type 2 Caused by Mitofusin 2 Mutations
39. Evolution of foot and ankle manifestations in children with CMT1A
40. The effect of pes cavus on foot pain and plantar pressure
41. Histopathological Findings in Hereditary Motor and Sensory Neuropathy of Axonal Type With Onset in Early Childhood Associated With Mitofusin 2 Mutations
42. Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A
43. Hyperventilation and the Pitt-Hopkins syndrome
44. RELIABILITY OF QUANTIFYING FOOT AND ANKLE MUSCLE STRENGTH IN VERY YOUNG CHILDREN
45. AUTOSOMAL-RECESSIVE AND X-LINKED FORMS OF HEREDITARY MOTOR AND SENSORY NEUROPATHY IN CHILDHOOD
46. ICNA: an open door to citizenship of the world
47. Expression of the antioxidant enzyme peroxiredoxin 5 in the human peripheral nervous system
48. Pes cavus pathogenesis in Charcot–Marie–Tooth disease type 1A
49. The expanding phenotype of laminin α2 chain (merosin) abnormalities: case series and review
50. Peripheral nerve disease secondary to systemic conditions in children
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