54 results on '"Burghes, A. H. M."'
Search Results
2. Base editing rescue of spinal muscular atrophy in cells and in mice
3. Spinal Muscular Atrophy
4. In Vitro and In Vivo Models of Spinal Muscular Atrophy
5. Retraction Note: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
6. Small uORFs favor translation re-initiation but do not protect mRNAs from nonsense-mediated decay
7. Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue
8. What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective
9. Persistent neuromuscular junction transmission defects in adults with spinal muscular atrophy treated with nusinersen
10. Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice
11. Conditional deletion of SMN in cell culture identifies functional SMN alleles
12. Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype
13. Mild SMN missense alleles are only functional in the presence of SMN2 in mammals
14. Normalization of Patient-Identified Plasma Biomarkers in SMNΔ7 Mice following Postnatal SMN Restoration
15. Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse
16. Improving Single Injection CSF Delivery of AAV9-mediated Gene Therapy for SMA: A Dose–response Study in Mice and Nonhuman Primates
17. A large animal model of spinal muscular atrophy and correction of phenotype
18. High Resolution Two-dimensional Polyacrylamide-gel Electrophoresis
19. Electrophysiological biomarkers in spinal muscular atrophy: proof of concept
20. Spinal muscular atrophy: Development and implementation of potential treatments
21. Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy
22. A Role for SMN Exon 7 Splicing in the Selective Vulnerability of Motor Neurons in Spinal Muscular Atrophy
23. Astrocytes from familial and sporadic ALS patients are toxic to motor neurons
24. Temporal requirement for high SMN expression in SMA mice
25. A genetic model of amyotrophic lateral sclerosis in zebrafish displays phenotypic hallmarks of motoneuron disease
26. RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
27. Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
28. Synthesis and Biological Evaluation of Novel 2,4-Diaminoquinazoline Derivatives as SMN2 Promoter Activators for the Potential Treatment of Spinal Muscular Atrophy
29. Ribonucleoprotein Assembly Defects Correlate with Spinal Muscular Atrophy Severity and Preferentially Affect a Subset of Spliceosomal snRNPs
30. Survival Motor Neuron Function in Motor Axons Is Independent of Functions Required for Small Nuclear Ribonucleoprotein Biogenesis
31. Valproic acid increases SMN levels in spinal muscular atrophy patient cells
32. The Land Between Mendelian and Multifactorial Inheritance
33. The survival motor neuron (SMN) protein: effect of exon loss and mutation on protein localization
34. Deletion and conversion in spinal muscular atrophy patients: Is there a relationship to severity?
35. Gene therapy for muscle diseases
36. Linkage mapping of the spinal muscular atrophy gene
37. A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient
38. Exon 44 nonsense mutation in two-duchenne muscular dystrophy brothers detected by heteroduplex analysis
39. Improvements of isoelectric focusing in agarose for direct tissue isoelectric focusing
40. A cDNA clone from the Duchenne/Becker muscular dystrophy gene
41. The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle
42. High resolution two-dimensional polyacrylamide gel electrophoresis. I. Methodological procedures
43. High resolution two‐dimensional polyacrylamide gel electrophoresis. II. Analysis and applications
44. ANALYSIS OF CELL SURFACE AND TOTAL PROTEINS OF SKIN FIBROBLASTS IN DUCHENNE MUSCULAR DYSTROPHY
45. Erythrocyte-ghost Ca2+-stimulated Mg2+-dependent adenosine triphosphatase in Duchenne muscular dystrophy
46. Frame-Shift Deletions in Patients with Duchenne and Becker Muscular Dystrophy
47. Enhancement of resolution in two‐dimensional gel electrophoresis and simultaneous resolution of acidic and basic proteins
48. Analysis of skin fibroblast proteins in Duchenne muscular dystrophy: 1. Sodium dodecyl sulphate polyacrylamide gel electrophoresis
49. ANALYSIS USING ISOELECTRIC FOCUSING AND TWO-DIMENSIONAL GEL ELECTROPHORESIS OF SKIN FIBROBLASTS IN DUCHENNE MUSCULAR DYSTROPHY
50. Analysis of skin fibroblast proteins in Duchenne muscular dystrophy: 2. Isoelectric focusing under dissociating conditions
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