104 results on '"Buj-Bello A"'
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2. Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial
3. 261st ENMC International Workshop: Management of safety issues arising following AAV gene therapy. 17th-19th June 2022, Hoofddorp, The Netherlands
4. Disrupted T‐tubular network accounts for asynchronous calcium release in MTM1‐deficient skeletal muscle
5. P.04 New developments and data highlights in the international myotubular and centronuclear myopathy patient registry
6. Semirational bioengineering of AAV vectors with increased potency and specificity for systemic gene therapy of muscle disorders
7. Characterization of Neuromuscular Junctions in Mice by Combined Confocal and Super-Resolution Microscopy
8. Characterization of Neuromuscular Junctions in Mice by Combined Confocal and Super-Resolution Microscopy
9. CONGENITAL MYOPATHIES – CENTRONUCLEAR MYOPATHIES
10. CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES
11. CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES
12. Recent progress in genome editing for gene therapy applications: the French perspective
13. ASPIRO Gene Therapy Trial In X-Linked Myotubular Myopathy (XLMTM): Update on Preliminary Safety And Efficacy Findings up to 72 Weeks Post-Treatment (1053)
14. AAV-Mediated Gene Transfer Restores a Normal Muscle Transcriptome in a Canine Model of X-Linked Myotubular Myopathy
15. P.200Feasibility and baseline values of continuous movement measurement in patients with centronuclear myopathy by using ActiMyo®
16. O.32Genome editing of expanded CTG repeats within the human DMPK gene reduces nuclear RNA foci in muscle of DM1 mice
17. P.367Comparative analysis of single stranded rAAV vectors expressing human SMN1 in correcting spinal muscular atrophy in mice
18. Genome Editing of Expanded CTG Repeats within the Human DMPK Gene Reduces Nuclear RNA Foci in the Muscle of DM1 Mice
19. Ca2+-induced sarcoplasmic reticulum Ca2+ release in myotubularin-deficient muscle fibers
20. X-linked myotubular myopathy
21. AAV-mediated gene transfer restores a normal muscle transcriptome in a canine model of X-linked myotubular myopathy
22. Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice
23. Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches
24. New myotubular myopathy classification
25. High-throughput transcriptome analysis provides new indicators of gene therapy efficacy in XLMTM dogs
26. CRISPR/Cas9-mediated genome editing corrects splicing alterations in myotonic dystrophy type 1
27. Myostatin expression levels in neuromuscular diseases participates in anti-myostatin clinical failure
28. Antisense targeting of dynamin 2 by intramuscular delivery of vivo-morpholinos rescues the pathology in a murine model of myotubular myopathy
29. Longitudinal data of patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study
30. Reversible endogenous downregulation of myostatin pathway in wasting neuromuscular diseases explains challenges of anti-myostatin therapeutic approaches
31. L’inhibition de l’activité PtdIns 3-kinase : un traitement pharmacologique potentiel de la myopathie myotubulaire
32. Long‐term effects of systemic gene therapy in a canine model of myotubular myopathy
33. Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs
34. Myostatin inhibition for neuromuscular disorders: defining the good candidate
35. Phosphatidylinositol 3-kinase inhibition restores Ca 2+ release defects and prolongs survival in myotubularin-deficient mice
36. Inhibition of PIK3C2B as a treatment strategy for myotubular myopathy
37. X-linked myotubular myopathy in ambulant patients
38. Baseline data from patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study
39. Prolonged benefit from systemic rAAV8 in a canine model of myotubular myopathy
40. AAV-mediated MTMR2 delivery prolongs survival and rescues the pathology in a mouse model of myotubular myopathy
41. PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models
42. Expression of myotubularins in blood platelets: Characterization and potential diagnostic of X-linked myotubular myopathy
43. 498. Prolonged Benefit from Systemic rAAV8 in a Canine Model of Myotubular Myopathy
44. 322. Genome Editing for Nucleotide Repeat Disorders: Towards a New Therapeutic Approach for Myotonic Dystrophy Type 1
45. Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons
46. Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1 vector in a mouse model of spinal muscular atrophy
47. Natural history and functional status of patients with myotubular myopathy enrolled in a prospective and longitudinal study
48. Peripheral vein injection of AAV8-MTM1 leads to long-term survival and correction of severe muscle pathology in a canine model of X-linked myotubular myopathy: Results from a dose escalation study
49. 130. Gene Editing of the AAVS1 Locus with CRISPR/Cas9
50. 503. Minimally Effective Dose of Systemic AAV8-MTM1 Needed To Prolong Survival and Correct Severe Muscle Pathology in a Canine Model of X-Linked Myotubular Myopathy
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