89 results on '"Burghes A"'
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2. Deletion of atrophy enhancing genes fails to ameliorate the phenotype in a mouse model of spinal muscular atrophy
3. 270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10–12 March, 2023, Hoofddorp, the Netherlands
4. SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES
5. 244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10–12, 2019, Hoofdorp, The Netherlands
6. SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES
7. O.24Biodistribution of onasemnogene abeparvovec (AVXS-101) DNA, mRNA, and SMN protein in human tissue
8. Deletion of atrophy enhancing genes fails to ameliorate the phenotype in a mouse model of spinal muscular atrophy
9. SMA THERAPIES I
10. SMA THERAPIES I
11. SMA THERAPIES I
12. Identification of variants that affect severity of the spinal muscular atrophy phenotype within and outside of the SMN2 gene
13. AVXS-101 phase 1 gene therapy clinical trial in SMA Type 1: patients treated early with the proposed therapeutic dose were able to sit unassisted at a younger age
14. Developing standard procedures for pre-clinical efficacy studies in mouse models of spinal muscular atrophy
15. SMA THERAPIES I
16. SMA THERAPIES I
17. Identification of variants that affect severity of the spinal muscular atrophy phenotype within and outside of the SMN2 gene
18. AVXS-101 phase 1 gene therapy clinical trial in SMA Type 1: decreased need of ventilatory and nutritional support at End-of-Study
19. AVXS-101 phase 1 gene therapy clinical trial in SMA Type 1: end-of-Study event free survival and achievement of developmental milestones
20. AVXS-101 phase 1 gene therapy clinical trial in SMA Type 1: patients treated early with the proposed therapeutic dose were able to sit unassisted at a younger age
21. Facilitating orphan drug development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA
22. AVXS-101 phase 1 gene therapy clinical trial in SMA Type 1: end-of-Study event free survival and achievement of developmental milestones
23. AVXS-101 phase 1 gene therapy clinical trial in SMA Type 1: decreased need of ventilatory and nutritional support at End-of-Study
24. Response of biomarkers to treatment in mouse models of spinal muscular atrophy and response of SMA mice to later treatment
25. P.374 - AVXS-101 phase 1 gene therapy clinical trial in SMA Type 1: patients treated early with the proposed therapeutic dose were able to sit unassisted at a younger age
26. P.373 - AVXS-101 phase 1 gene therapy clinical trial in SMA Type 1: decreased need of ventilatory and nutritional support at End-of-Study
27. P.372 - AVXS-101 phase 1 gene therapy clinical trial in SMA Type 1: end-of-Study event free survival and achievement of developmental milestones
28. P.133 - Identification of variants that affect severity of the spinal muscular atrophy phenotype within and outside of the SMN2 gene
29. Facilitating orphan drug development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA
30. Response of biomarkers to treatment in mouse models of spinal muscular atrophy and response of SMA mice to later treatment
31. G.O.15
32. O10 Development of PMO antisense oligonucleotides for treatment of Spinal muscular atrophy
33. T.O.5 Spinal muscular atrophy SMA: SMNs spatial requirement and therapies
34. The role of the dystrophin-glycoprotein complex in the molecular pathogenesis of muscular dystrophies
35. G.O.15
36. O10 Development of PMO antisense oligonucleotides for treatment of Spinal muscular atrophy
37. P3.32 Exon/intron 7 inclusion: an alternative mode of splice intervention in spinal muscular atrophy fibroblasts
38. T.P.1.08 The use of antisense oligomer for splice switching in spinal muscular atrophy fibroblasts
39. T.I.1 Current developments in therapeutics for spinal muscular atrophy
40. O.8 Intrathecal delivery of AAV9 vectors to model and rescue a large animal model of SMA
41. O.7 Spinal muscular atrophy: How it works and therapeutic targets
42. P.6.5 Improved antisense oligonucleotide design to suppress aberrant SMN2 gene transcript processing
43. O.8 Intrathecal delivery of AAV9 vectors to model and rescue a large animal model of SMA
44. P.6.5 Improved antisense oligonucleotide design to suppress aberrant SMN2 gene transcript processing
45. O.7 Spinal muscular atrophy: How it works and therapeutic targets
46. T.O.5 Spinal muscular atrophy SMA: SMNs spatial requirement and therapies
47. P3.11 Antisense oligomer mediated retention of SMN2 intron and exon 7 leads to a novel SMN transcript and increased functional SMN protein in Spinal Muscular Atrophy fibroblasts
48. S.I.1 Development and preclinical evaluation of therapies for spinal muscular atrophy
49. G.P.21 - Response of biomarkers to treatment in mouse models of spinal muscular atrophy and response of SMA mice to later treatment
50. P3.32 Exon/intron 7 inclusion: an alternative mode of splice intervention in spinal muscular atrophy fibroblasts
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