1,295 results on '"Bushby K"'
Search Results
2. Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients
3. Six minute walk test in type III spinal muscular atrophy: A 12 month longitudinal study
4. EUROPLAN : A Project to Support the Development of National Plans on Rare Diseases in Europe
5. Microvascular Pathology in Familial Multiinfarct Dementia or CADASIL: Implications for Cerebral Blood Flow
6. Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy : A Randomized Clinical Trial
7. Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients
8. LGMD
9. Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK
10. The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials
11. 170th ENMC International Workshop: Bone protection for corticosteroid treated Duchenne muscular dystrophy. 27–29 November 2009, Naarden, The Netherlands
12. Recruitment in the FOR-DMD study - Double-blind randomized trial to optimize steroid regime in Duchenne Muscular Dystrophy (DMD): 29
13. Anticipating and Overcoming Obstacles in setting up NIH funded academic led, international clinical trials in rare disease - learning from FOR DMD: 26
14. Muscular Dystrophies
15. Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; Report of three expert workshops: TREAT-NMD/ENMC Workshop on outcome measures, 12th–13th May 2007, Naarden, The Netherlands; TREAT-NMD Workshop on outcome measures in experimental trials for DMD, 30th June–1st July 2007, Naarden, The Netherlands; Conjoint Institute of Myology TREAT-NMD Meeting on physical activity monitoring in neuromuscular disorders, 11th July 2007, Paris, France
16. The National Diagnostic and Advisory Service for Linb-Girdle Muscular Dystrophies in Newcastle: P20
17. The National Diagnostic and Advisory Service for Limb-Girdle Muscular Dystrophies in Newcastle: O12
18. Tumor necrosis factor receptor SF10A (TNFRSF10A) SNPs correlate with corticosteroid response in Duchenne muscular dystrophy
19. The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy
20. MRI for the demonstration of subclinical muscle involvement in muscular dystrophy
21. Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3
22. MUSCLE IMAGING – MRI
23. Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy
24. Emotional impact of genetic trials in progressive paediatric disorders: a dose-ranging exon-skipping trial in Duchenne muscular dystrophy
25. Limb Girdle Muscular Dystrophies
26. Muscular dystrophy
27. VCP related inclusion body myopathy presenting with foot drop: O16
28. Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?
29. Systemic administration of AVI-4658, a phosphorodiamidate morpholino oligomer to induce exon 51 skipping, is well tolerated and restores dystrophin expression in male children with Duchenne muscular dystrophy in a dose-dependent manner
30. A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy
31. Calpainopathy - a survey of mutations and polymorphisms
32. Mutations in INPP5K , Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
33. Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue
34. Steroid treatment causes deterioration of myocardial function in the δ-sarcoglycan-deficient mouse model for dilated cardiomyopathy
35. Exon Skipping Mutations in Collagen VI Are Common and Are Predictive for Severity and Inheritance
36. Spectrum of brain involvement in muscular dystrophies with defective dystroglycan glycosylation
37. Dystrophin positive revertant fibres do not increase with age in Duchenne muscular dystrophy
38. EFNS guideline on diagnosis and management of limb girdle muscular dystrophies
39. The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials
40. Wat herinneren patiënten zich van de preoperatieve uitleg betreffende hun instemmingsverklaring met een operatie?
41. Collagen VI related muscle disorders
42. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy: II. Correlation of phenotype with genetic and protein abnormalities
43. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy: I. Natural history
44. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
45. Genetic and clinical correlations of Xp21 muscular dystrophy
46. Hypercalcaemia in infancy; a presenting feature of spinal muscular atrophy
47. Limb-girdle muscular dystrophies – from genetics to molecular pathology
48. Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis
49. Hereditary spastic paraparesis: a review of new developments
50. Hereditary Vascular Dementia Linked to Notch 3 Mutations: CADASIL in British Families
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