273 results on '"Yiu, Eppie M."'
Search Results
2. Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature
3. Practical approach to the child presenting with acute generalised weakness
4. Pilot study of a virtual weight management program for Duchenne muscular dystrophy
5. A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice
6. A systematic review describing the impact of disease modifying therapies on nutrition outcomes in spinal muscular atrophy
7. Remediation of Perceptual Deficits in Progressive Auditory Neuropathy: A Case Study.
8. Multiple cranial neuropathies in an adolescent with myelin‐oligodendrocyte glycoprotein antibody‐associated disease
9. The clinical profile of NMOSD in Australia and New Zealand
10. Diagnosis and management of Guillain–Barré syndrome in ten steps
11. Probing the multifactorial source of hand dysfunction in Friedreich ataxia
12. Fracture risk and impact in boys with Duchenne muscular dystrophy: A retrospective cohort study
13. Characterization of the human myelin oligodendrocyte glycoprotein antibody response in demyelination
14. Geographic Expansion of Japanese Encephalitis Virus to Australia: Neuroinflammatory Sequelae and Consideration of Immunomodulation
15. How does performance of the Friedreich Ataxia Functional Composite compare to rating scales?
16. Friedreich Ataxia
17. Delivering multidisciplinary neuromuscular care for children via telehealth
18. An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels
19. Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy
20. Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease
21. The Responsiveness of Gait and Balance Outcomes to Disease Progression in Friedreich Ataxia
22. Guía basada en la evidencia. Diagnóstico y manejo del síndrome de Guillain-Barré en diez pasos = Evidence based guidelines. Diagnosis and management of Guillain-Barré syndrome in ten steps
23. MRI Patterns Distinguish AQP4 Antibody Positive Neuromyelitis Optica Spectrum Disorder From Multiple Sclerosis
24. Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia
25. Congenital and Early Infantile Neuropathies
26. List of Contributors
27. Duchenne muscular dystrophy
28. A study of up to 12 years of follow-up of Friedreich ataxia utilising four measurement tools
29. Ascorbic acid for Charcot–Marie–Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial
30. Determining the Validity of Conducting Rating Scales in Friedreich Ataxia through Video
31. The responsiveness of gait and balance outcomes to disease progression in Friedreich ataxia
32. HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia
33. Diretrizes Baseadas em Evidências Diagnóstico e manejo da Síndrome de Guillain–Barré em dez etapas
34. The severe epilepsy syndromes of infancy: A population‐based study
35. The effects of calf massage in boys with Duchenne muscular dystrophy: a prospective interventional study
36. Supplementary_table_2 - Neuromyelitis Optica Spectrum Disorder and Anti-Aquaporin 4 Channel Immunoglobulin in an Australian Pediatric Demyelination Cohort
37. A new locus for X-linked dominant Charcot–Marie–Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene
38. Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset
39. The effects of calf massage in boys with Duchenne muscular dystrophy: a prospective interventional study.
40. Demyelinating prenatal and infantile developmental neuropathies
41. Extended treatment of childhood Charcot-Marie-Tooth disease with high-dose ascorbic acid
42. EPIDERMOLYSIS BULLOSA WITH LATE-ONSET MUSCULAR DYSTROPHY AND PLECTIN DEFICIENCY
43. Relapse Patterns in NMOSD: Evidence for Earlier Occurrence of Optic Neuritis and Possible Seasonal Variation
44. Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation
45. The effects of calf massage in boys with Duchenne muscular dystrophy: a prospective interventional study
46. Neuromyelitis Optica Spectrum Disorder and Anti-Aquaporin 4 Channel Immunoglobulin in an Australian Pediatric Demyelination Cohort
47. Update on emerging therapies for multiple sclerosis
48. Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease
49. Classic Pelizaeus-Merzbacher disease in a girl with an unbalanced chromosomal translocation and functional duplication of PLP1
50. GUÍA BASADA EN LA EVIDENCIA. DIAGNÓSTICO Y MANEJO DEL SÍNDROME DE GUILLAIN-BARRÉ EN DIEZ PASOS.
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