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2. WITHDRAWN: Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study

3. 212th ENMC International Workshop

4. 240th ENMC workshop: The involvement of skeletal muscle stem cells in the pathology of muscular dystrophies 25–27 January 2019, Hoofddorp, The Netherlands

5. WITHDRAWN: Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study

6. Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools

7. Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools

8. 212th ENMC International Workshop

10. P5 Detection of circulating miRNAs in serum in a mouse model of Collagen VI Deficiency

13. G.P.1.04 Design of a novel array-CGH to explore allelic and genetic heterogeneity in COLVI related myopathies

15. P.1.8 Genetic ablation of p66Shc rescues functional and morphological abnormalities in collagen VI dystrophic mice

17. T.P.22 Nanoparticles as delivery systems for antisense oligoribonucleotides: Biodistribution studies and definition of the release kinetic in treated mdx mice

19. O.17 Autophagy thwarts collagen VI muscular dystrophies

20. P1.52 BIO-NMD: Discovery and validation of biomarkers for neuromuscular diseases (NMDs) – An EU funded FP7 project

22. O.14 Biocompatible nanoparticles as slow-release delivery system of 2′OMePS AON administered both intraperitoneally and orally in the mdx mice: dystrophin rescue and nanoparticles biodistribution

23. O.17 Autophagy thwarts collagen VI muscular dystrophies

24. P2.3 Monoamine oxidase inhibitors reduce mitochondrial ROS accumulation and dysfunction in patients with collagen VI myopathies

25. P4.50 Mitochondrial therapy with Cyclosporine A in patients with Ullrich Congenital Muscular Dystrophy

31. EM.P.5.06 Collagen VI alpha5 chain exhibits a restricted localization at junctions in human skeletal muscle and skin

33. EM.P.4.07 Autosomal recessive Bethlem myopathy

34. EM.P.4.03 Extensive sequencing of COL6A genes in a cohort of 65 patients with collagen type VI related myopathies. Focus on splicing mutations causing Ullrich congenital muscular dystrophy

36. EM.P.5.03 The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1-/- myopathic mice

39. T.P.2.07 The systemic administration of a low dose of 2OMePS-AON combined with novel cationic polymethylmethacrylate nanoparticles induces the rescue of dystrophin expression in the mdx murine model

40. EM.P.5.08 Novel collagen VI alpha chains distribution in murine skeletal muscle: Possible implications for neuromuscular disorders

41. EM.P.5.06 Collagen VI alpha5 chain exhibits a restricted localization at junctions in human skeletal muscle and skin

43. EM.P.4.09 Immunofluorescence and morphological alterations of capillary wall in skeletal muscle of two myosclerosis myopathy patients

44. EM.P.5.01 Gene expression and proteome profiles in Col6a1−/− mice, a model of Ullrich congenital muscular dystrophy (UCMD)

45. EM.P.5.04 Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice

47. T.P.2.07 The systemic administration of a low dose of 2OMePS-AON combined with novel cationic polymethylmethacrylate nanoparticles induces the rescue of dystrophin expression in the mdx murine model

48. Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23–24 November 2001, Naarden, The Netherlands

50. P.1.8 Genetic ablation of p66Shc rescues functional and morphological abnormalities in collagen VI dystrophic mice.

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