170 results on '"Bovolenta, M"'
Search Results
2. Engineered transcription factors (TALE-TF) as potential therapeutic strategy for coagulation factor deficiencies caused by promoter mutations: OR179
3. Corrigendum to: 'Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression'. [Biochim. Biophys. Acta Gene Regul. Mech. 2017 Nov;1860(11):1138–1147.] (Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms (2017) 1860(11) (1138–1147), (S1874939917301359), (10.1016/j.bbagrm.2017.08.010))
4. Corrigendum to: “Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression”. [Biochim. Biophys. Acta Gene Regul. Mech. 2017 Nov;1860(11):1138–1147.]
5. Prenatal diagnosis of Duchenne muscular dystrophy by comparative genomic hybridization
6. Transcriptional Behavior of DMD Gene Duplications in DMD/BMD Males
7. C6orf10 low-frequency and rare variants in italian multiple sclerosis patients
8. Exome sequencing and transcriptomic analysis in jugular vein wall for detection of CCSVI biomarkers in Multiple Sclerosis
9. 808 Ex vivo COL7A1 correction for recessive dystrophic epidermolysis bullosa using CRISPR/Cas9 and homology directed repair
10. Correction of the exon 2 duplication in DMD myoblasts by a single CRISPR/Cas9 system
11. Exon skipping-mediated dystrophin reading frame restoration for small mutations
12. Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools
13. Deep RNA profiling identified clock and molecular clock genes as pathophysiological signatures in collagen VI myopathy
14. Gastric metaplasia in duodenal bulb andCampylobacter-like organisms in development of duodenal ulcer
15. Search for SNPs modifiers in DMD with different corticosteroids response by candidate genes targeted resequencing
16. Whole exome sequencing and RNAseq in a Duchenne-like female with no dystrophin mutations: Search for dystrophin gene modifiers
17. Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy
18. Monitoring and comparison of solid particulate matter between Po Valley and Friuli Plain
19. ncRNAs originating from the dystrophin gene as biomarker for assessing antisense therapy
20. Nanoparticles are effective vehicles for systemic delivery of 2 ' OMePS antisense oligonucleotides in exon skipping-mediated dystrophin restoration
21. Autosomal recessive Bethlem myopathy
22. Pre-trial antisense screening of myogenic cells from boys with Duchenne muscular dystrophy and genomic and transcriptomic biomarkers discovery for treatment monitoring
23. The systemic administration of a low dose of 20MePS-AON combined with novel cationic polymethylmethacrylate nanoparticles induces the rescue of dystrophin expression in the mdx murine model
24. P.300 - Correction of the exon 2 duplication in DMD myoblasts by a single CRISPR/Cas9 system
25. Intronic conserved non-coding sequences (CNSs) as a tool to detect noncoding RNAs (ncRNAs) and putative regulatory motifs within the dystrophin gene
26. The evolution of the atheromatous plaque: ultrastructural evidence
27. Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype
28. S.O.6 - Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools
29. Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy
30. Autosomal recessive Bethlem myopathy.
31. Birbeck granules: contribution to the comprehension of intracytoplasmic evolution
32. MOLECULAR MECHANISMS AND THERAPEUTIC APPROACHES FOR RESTORATION OF MRNA TRANSCRIPTION, MATURATION AND TRANSLATION IN INHERITED COAGULATION FACTOR DEFICIENCIES.
33. D.P.7 Whole exome sequencing as genetic diagnostic tool in myofibrillar myopathies
34. G.P.15 Whole transcriptome expression profiling in COL6a1 null mice shows deregulation of circadian clock genes as exploratory COL6 myopathies biomarkers
35. D.P.9 Whole exome sequencing filtered by novel candidate genes as tool for gene discovery in a recessive family with Parkinson and ataxia
36. D.P.12 Whole exome sequencing and RNAseq in a Duchenne-like female with no dystrophin mutations: Search for dystrophin gene modifiers
37. P1.19 Whole genetic and protein characterisation in DMD symptomatic female carriers excludes correlation with X-inactivation and transcriptional DMD allele balancing
38. G.P.378 - Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy
39. P3.03 Nanoparticles are effective vehicles for systemic delivery of 2′OMePS antisense oligonucleotides in exon skipping-mediated dystrophin restoration
40. P4.01 ncRNAs originating from the dystrophin gene as biomarker for assessing antisense therapy
41. EM.P.5.01 Gene expression and proteome profiles in Col6a1−/− mice, a model of Ullrich congenital muscular dystrophy (UCMD)
42. 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
43. G.P.13.02 Non-coding RNAs within the DMD gene
44. EM.P.4.07 Autosomal recessive Bethlem myopathy
45. T.P.2.06 Modulation of small mutations in dystrophin “skippable” exons: In vitro studies to identify the optimal PS-AONs
46. G.P.1.04 Design of a novel array-CGH to explore allelic and genetic heterogeneity in COLVI related myopathies
47. G.P.7.03 Identification of Polyadenylated (PolyA+) transcripts within the dystrophin gene with a high density microarray
48. 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
49. G.P.7.04 High Density-comparative genomic hybridization (HD-CGH) array as a tool to detect deep intronic mutations in the dystrophin gene
50. G.P.12.06 A comprehensive molecular characterisation of dystrophinopathies
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