36 results on '"Buj-Bello A"'
Search Results
2. Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial
3. The myotubular and centronuclear myopathy patient registry: a multifunctional tool for translational research
4. Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs
5. Differential Muscle Hypertrophy Is Associated with Satellite Cell Numbers and Akt Pathway Activation Following Activin Type IIB Receptor Inhibition in Mtm1 p.R69C Mice
6. Myotubularin-Deficient Myoblasts Display Increased Apoptosis, Delayed Proliferation, and Poor Cell Engraftment
7. 261st ENMC International Workshop: Management of safety issues arising following AAV gene therapy. 17th-19th June 2022, Hoofddorp, The Netherlands
8. P.04 New developments and data highlights in the international myotubular and centronuclear myopathy patient registry
9. CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES: EP.40 Neuromuscular junction defects in ACTA1-related nemaline myopathy
10. CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES: EP.33 Severe forms of ACTA1-related nemaline myopathy: Reassessment of the morphological, clinical and molecular aspects
11. CONGENITAL MYOPATHIES – CENTRONUCLEAR MYOPATHIES: EP.25 Myotubular and centronuclear myopathy patient registry: Accelerating the pace of research and treatment
12. P.278 - CRISPR/Cas9-mediated genome editing corrects splicing alterations in myotonic dystrophy type 1
13. P.261 - Antisense targeting of dynamin 2 by intramuscular delivery of vivo-morpholinos rescues the pathology in a murine model of myotubular myopathy
14. P.247 - New myotubular myopathy classification
15. P.250 - Longitudinal data of patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study
16. P.252 - High-throughput transcriptome analysis provides new indicators of gene therapy efficacy in XLMTM dogs
17. EC.O.4 - Reversible endogenous downregulation of myostatin pathway in wasting neuromuscular diseases explains challenges of anti-myostatin therapeutic approaches
18. D11 - Myostatin inhibition for neuromuscular disorders: defining the good candidate
19. T.O.13 - Prolonged benefit from systemic rAAV8 in a canine model of myotubular myopathy
20. T.O.15 - Inhibition of PIK3C2B as a treatment strategy for myotubular myopathy
21. P.91 - X-linked myotubular myopathy in ambulant patients
22. P.92 - Baseline data from patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study
23. P.94 - AAV-mediated MTMR2 delivery prolongs survival and rescues the pathology in a mouse model of myotubular myopathy
24. G.P.294 - 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
25. G.P.296 - Natural history and functional status of patients with myotubular myopathy enrolled in a prospective and longitudinal study
26. G.P.43: Gene replacement therapy of myotubular myopathy: Restricting expression of MTM1 in skeletal muscle
27. G.P.41: Canine X-linked myotubular myopathy: A dose-finding study of systemic AAV8-MTM1 effects on muscle strength, gait, respiration, neuromuscular function and survival
28. G.P.39: An international prospective, longitudinal study of the natural history and functional status of patients with myotubular myopathy
29. P.4.3 Intravenous infusion of AAV8–MTM1 prolongs life and ameliorates severe muscle pathology in mouse and dog models of X-linked myotubular myopathy
30. P.4.2 MTMR2 ameliorates the phenotype of myotubular myopathy in mice
31. O.6 Restricting MTM1 transgene expression to skeletal muscle in AAV-mediated gene therapy for myotubular myopathy
32. T.O.4 Development of AAV-gene and protein-based therapies for X-linked myotubular myopathy
33. P1.44 Neuromuscular junction abnormalities and myotubular myopathy
34. G.P.12.02 T-tubule disorganisation and defective excitation–contraction coupling in muscle fibres lacking myotubularin lipid phosphatase
35. T.P.5.05 Muscle-specific expression of myotubularin ameliorates the phenotype of targeted muscles in mouse models of X-linked myotubular myopathy
36. G.P.9.11 Histopathological findings in Vici syndrome
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