40 results on '"Kariyawasam, Didu"'
Search Results
2. Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders
3. Characterizing Common Phenotypes Across the Childhood Dementia Disorders: A Cross-sectional Study From Two Australian Centers
4. Incidence of Duchenne muscular dystrophy in the modern era; an Australian study
5. ‘High hopes for treatment’: Australian stakeholder perspectives of the clinical translation of advanced neurotherapeutics for rare neurological diseases
6. ‘Integrating Ethics and Equity with Economics and Effectiveness for newborn screening in the genomic age: A qualitative study protocol of stakeholder perspectives
7. ‘Integrating Ethics and Equity with Economics and Effectiveness for newborn screening in the genomic age: a qualitative study protocol of stakeholder perspectives.
8. “We needed this”: perspectives of parents and healthcare professionals involved in a pilot newborn screening program for spinal muscular atrophy
9. The Australian landscape of newborn screening in the genomics era
10. The implementation of newborn screening for spinal muscular atrophy: the Australian experience
11. New and developing therapies in spinal muscular atrophy
12. The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers
13. Deciphering spinal muscular atrophy: the need for more research
14. Decision-making and challenges within the evolving treatment algorithm in spinal muscular atrophy: a clinical perspective
15. Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study
16. Presymptomatic spinal muscular atrophy: a cautionary approach to the proposed new terminology
17. Identification of Novel CSF-Derived miRNAs in Treated Paediatric Onset Spinal Muscular Atrophy: An Exploratory Study
18. Understanding the ongoing learning needs of Australian paediatricians: Evaluation of a pilot paediatric video teaching programme
19. ‘Advocacy groups are the connectors’: Experiences and contributions of rare disease patient organization leaders in advanced neurotherapeutics
20. WE-149. Axonal excitability changes in children with spinal muscular atrophy treated with nusinersen
21. The novel strategies of management in paediatric neuromuscular disease: the pathway from diagnosis to treatment
22. Understanding the ongoing learning needs of Australian paediatricians: Evaluation of a pilot paediatric video teaching programme.
23. Identification of Novel CSF-Derived miRNAs in Treated Paediatric Onset Spinal Muscular Atrophy: An Exploratory Study.
24. Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy.
25. Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy
26. Axonal excitability changes in children with spinal muscular atrophy treated with nusinersen
27. Brain tumours in paediatrics: when should they be suspected?
28. Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme.
29. Integrating a Pilot Newborn Screening for Spinal Muscular Atrophy Into the Australian Public Healthcare System
30. Motor unit changes in children with symptomatic spinal muscular atrophy treated with nusinersen
31. Axonal excitability changes in children with spinal muscular atrophy treated with nusinersen.
32. Great expectations: virus-mediated gene therapy in neurological disorders
33. 7. Motor unit changes in children with spinal muscular atrophy treated with nusinersen
34. 'We Needed This': Perspectives of Parents and Healthcare Professionals Involved in a Pilot Newborn Screening Program for Spinal Muscular Atrophy
35. Spinal muscular atrophy.
36. Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy
37. Biomarkers and the Development of a Personalized Medicine Approach in Spinal Muscular Atrophy
38. 023 Genetic carrier screening for duchenne muscular dystrophy: the outcome of over twenty years of genetic counselling on disease epidemiology in a single-centre cohort study in new south wales (NSW), australia
39. Motor unit changes in children with symptomatic spinal muscular atrophy treated with nusinersen.
40. Diagnosis of sporadic neurofibromatosis type 2 in the paediatric population
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