175 results on '"Burghes, A. H. M."'
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2. Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue
3. Retraction Note: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
4. Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype
5. Base editing rescue of spinal muscular atrophy in cells and in mice
6. Improving Single Injection CSF Delivery of AAV9-mediated Gene Therapy for SMA: A Dose–response Study in Mice and Nonhuman Primates
7. Spinal Muscular Atrophy
8. In Vitro and In Vivo Models of Spinal Muscular Atrophy
9. Small uORFs favor translation re-initiation but do not protect mRNAs from nonsense-mediated decay
10. A large animal model of spinal muscular atrophy and correction of phenotype
11. Frame-Shift Deletions in Patients with Duchenne and Becker Muscular Dystrophy
12. The Problem of Duchenne Muscular Dystrophy [and Discussion]
13. What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective
14. Persistent neuromuscular junction transmission defects in adults with spinal muscular atrophy treated with nusinersen
15. RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
16. Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
17. Spinal muscular atrophy: Development and implementation of potential treatments
18. The survival motor neuron (SMN) protein: effect of exon loss and mutation on protein localization
19. Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice
20. Conditional deletion of SMN in cell culture identifies functional SMN alleles
21. Linkage mapping of the spinal muscular atrophy gene
22. SMNΔ7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN
23. The Land Between Mendelian and Multifactorial Inheritance
24. Does the survival motor neuron protein (SMN) interact with Bcl-2?
25. Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis
26. A novel splice site mutation in a Becker muscular dystrophy patient
27. Immunohistochemical Analysis of Dystrophin-associated Proteins in Becker/Duchenne Muscular Dystrophy with Huge In-Frame Deletions in the NH2-Terminal and Rod Domains of Dystrophin
28. Mild SMN missense alleles are only functional in the presence of SMN2 in mammals
29. A HindIII/BglII dystrophin gene polymorphism in the African-American population
30. Normalization of Patient-Identified Plasma Biomarkers in SMNΔ7 Mice following Postnatal SMN Restoration
31. Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse
32. Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene
33. High Resolution Two-dimensional Polyacrylamide-gel Electrophoresis
34. Electrophysiological biomarkers in spinal muscular atrophy: proof of concept
35. Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy
36. A Role for SMN Exon 7 Splicing in the Selective Vulnerability of Motor Neurons in Spinal Muscular Atrophy
37. Astrocytes from familial and sporadic ALS patients are toxic to motor neurons
38. Temporal requirement for high SMN expression in SMA mice
39. A genetic model of amyotrophic lateral sclerosis in zebrafish displays phenotypic hallmarks of motoneuron disease
40. Synthesis and Biological Evaluation of Novel 2,4-Diaminoquinazoline Derivatives as SMN2 Promoter Activators for the Potential Treatment of Spinal Muscular Atrophy
41. Ribonucleoprotein Assembly Defects Correlate with Spinal Muscular Atrophy Severity and Preferentially Affect a Subset of Spliceosomal snRNPs
42. Low levels of Survival Motor Neuron protein are sufficient for normal muscle function in the SMNΔ7 mouse model of SMA.
43. SMN expression is required in motor neurons to rescue electrophysiological deficits in the SMNΔ7 mouse model of SMA.
44. SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice.
45. Survival Motor Neuron Function in Motor Axons Is Independent of Functions Required for Small Nuclear Ribonucleoprotein Biogenesis
46. Valproic acid increases SMN levels in spinal muscular atrophy patient cells
47. Deletion and conversion in spinal muscular atrophy patients: Is there a relationship to severity?
48. Gene therapy for muscle diseases
49. Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy.
50. A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient
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