239 results on '"Torelli, Silvia"'
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2. Myostatin Is a Quantifiable Biomarker for Monitoring Pharmaco-gene Therapy in Duchenne Muscular Dystrophy
3. The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy
4. Irradiation dependent inflammatory response may enhance satellite cell engraftment
5. A high–throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies
6. MyoD-induced reprogramming of human fibroblasts and urinary stem cells in vitro: protocols and their applications
7. Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation
8. A new patient‐derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α‐dystroglycan
9. Regulation of the dystrophin-associated glycoprotein complex composition by the metabolic properties of muscle fibres
10. A Proof of Principle Proteomic Study Detects Dystrophin in Human Plasma : Implications in DMD Diagnosis and Clinical Monitoring
11. A Proof of Principle Proteomic Study Detects Dystrophin in Human Plasma: Implications in DMD Diagnosis and Clinical Monitoring
12. Decellularised skeletal muscles allow functional muscle regeneration by promoting host cell migration
13. Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan
14. Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan
15. Restoration of the Dystrophin-associated Glycoprotein Complex After Exon Skipping Therapy in Duchenne Muscular Dystrophy
16. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study
17. Neuron—Glia Interactions in the Human Fetal Brain
18. Human Fetal Brain Cultures: A Model to Study Neural Proliferation, Differentiation and Immunocompetence
19. Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy
20. TRAPPC11 ‐related muscular dystrophy with hypoglycosylation of alpha‐dystroglycan in skeletal muscle and brain
21. Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases
22. High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients
23. Muscular Dystrophies Due to Glycosylation Defects
24. Duchenne muscular dystrophy patients lacking the dystrophin isoforms Dp140 and Dp71 and mouse models lacking Dp140 have a more severe motor phenotype
25. TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain
26. Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases
27. Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human
28. Biochemical Characterization of Patients With In-Frame or Out-of-Frame DMD Deletions Pertinent to Exon 44 or 45 Skipping
29. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies
30. Defective glycosylation in muscular dystrophy. (Rapid Review)
31. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin [alpha]2 deficiency and abnormal glycosylation of [alpha]-Dystroglycan
32. Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials
33. Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies
34. TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.
35. POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan
36. Author response: POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan
37. POMK regulates dystroglycan function via LARGE-mediated elongation of matriglycan
38. A Comparative Study of α-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α-Dystroglycan Does Not Consistently Correlate with Clinical Severity
39. Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I
40. TRAPPC11‐related muscular dystrophy with hypoglycosylation of alpha‐dystroglycan in skeletal muscle and brain.
41. Additional file 1 of A high–throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies
42. Mild POMGnT1 Mutations Underlie a Novel Limb-Girdle Muscular Dystrophy Variant
43. Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
44. SYNCOILIN UPREGULATION IN MUSCLE OF PATIENTS WITH NEUROMUSCULAR DISEASE
45. Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy
46. Abnormalities in α-Dystroglycan Expression in MDC1C and LGMD2I Muscular Dystrophies
47. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan
48. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
49. Dystrophin and mutations: one gene, several proteins, multiple phenotypes
50. Profound skeletal muscle depletion of α-dystroglycan in Walker-Warburg syndrome
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