50 results on '"Sabatelli, P"'
Search Results
2. Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation.
3. PO-04-109 OUTCOMES OF RADIOFREQUENCY CATHETER ABLATION OF DISTINCT ANTERO-SEPTAL ACCESSORY PATHWAYS BY CONVENTIONAL ELECTROPHYSIOLOGICAL MAPPING.
4. S.O.6 - Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools
5. Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia.
6. Long-term motor cortex stimulation for amyotrophic lateral sclerosis.
7. T.P.22 Nanoparticles as delivery systems for antisense oligoribonucleotides: Biodistribution studies and definition of the release kinetic in treated mdx mice
8. Emerin expression at the early stages of myogenic differentiation.
9. O.17 Autophagy thwarts collagen VI muscular dystrophies
10. P4.50 Mitochondrial therapy with Cyclosporine A in patients with Ullrich Congenital Muscular Dystrophy
11. 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
12. P2.7 Collagen VI alpha5 and alpha6 chains expression in human muscle
13. P2.3 Monoamine oxidase inhibitors reduce mitochondrial ROS accumulation and dysfunction in patients with collagen VI myopathies
14. P1.28 Dystrophin mediates melanocytes attachment to dermal-epidermal junction in human skin
15. Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant.
16. P3.03 Nanoparticles are effective vehicles for systemic delivery of 2′OMePS antisense oligonucleotides in exon skipping-mediated dystrophin restoration
17. P1.13 Pathological spectrum of collagen VI related myopathies: Does the pathology tell us something about the disease?
18. P1.09 Clinical features in collagen VI deficiency
19. Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein.
20. G.P.15.04 Collagen VI deficiency in skin fibroblasts from progeroid laminopathies
21. EM.P.5.04 Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice
22. EM.P.5.02 Role of mitochondria in the pathogenesis of muscular dystrophies
23. EM.P.5.06 Collagen VI alpha5 chain exhibits a restricted localization at junctions in human skeletal muscle and skin
24. EM.P.5.07 Abnormal elastin deposits and altered organization of elastic fibers in collagen VI- related disorders
25. EM.P.5.08 Novel collagen VI alpha chains distribution in murine skeletal muscle: Possible implications for neuromuscular disorders
26. EM.P.5.03 The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1[formula omitted] myopathic mice
27. EM.P.5.01 Gene expression and proteome profiles in Col6a1−/− mice, a model of Ullrich congenital muscular dystrophy (UCMD)
28. EM.P.4.09 Immunofluorescence and morphological alterations of capillary wall in skeletal muscle of two myosclerosis myopathy patients
29. EM.P.4.07 Autosomal recessive Bethlem myopathy
30. 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
31. EM.I.2 Toward a mitochondrial therapy of collagen VI muscular dystrophies
32. T.P.1.01 Pre-trial antisense screening of myogenic cells from boys with Duchenne muscular dystrophy and genomic and transcriptomic biomarkers discovery for treatment monitoring
33. M.P.1.01 Pilot trial with cyclosporin A in patients with collagen VI myopathies
34. 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
35. T.P.2.06 Modulation of small mutations in dystrophin “skippable” exons: In vitro studies to identify the optimal PS-AONs
36. C.P.2.05 Molecular analysis of COL6 genes in patients with Bethlem myopathy and Ullrich congenital muscular dystrophy
37. OP046 DISEASE-SPECIFIC ENTERAL NUTRITION IN AMYOTROPHIC LATERAL SCLEROSIS (ALS).
38. PP085 ENTERAL NUTRITION AND SURVIVAL IN AMYOTROPHIC LATERAL SCLEROSIS.
39. C.P.2.07 Autosomal recessive myosclerosis myopathy is a collagen type VI disorder
40. G.P.3.02 In vivo biodistribution of non-viral systems for oligoribonucleotides delivery
41. P.P.7 02 Effect on collagen VI extra-cellular assembly of COL6A1 and COL6A2 C-terminal mutations in Ullrich congenital muscular dystrophy
42. Functional domains of the nucleus: implications for Emery–Dreifuss muscular dystrophy
43. Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies.
44. Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies.
45. 114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17–19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE)
46. G.P.1.04 Design of a novel array-CGH to explore allelic and genetic heterogeneity in COLVI related myopathies
47. G.P.12.02 How much dystrophin to avoid muscular dystrophy?
48. G.P.5.08 PCNA staining pattern is altered in Emery–Dreifuss fibroblasts
49. P.P.7 01 Confocal imaging and electron microscopy analysis to identify secondary collagen VI defects
50. Melanocytes — A novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy
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