428 results on '"D'Amico, A"'
Search Results
2. Evolution of neuropsychological and behavioral profile in a cohort of pediatric patients with Becker muscular dystrophy in a longitudinal study
3. Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module
4. Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium
5. Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study
6. Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy
7. Long term follow-up of scoliosis progression in type II SMA patients
8. Neuropsychological and behavioral profile in a cohort of Becker muscular dystrophy pediatric patients
9. Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes
10. Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen
11. The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy
12. The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure
13. P120 Refining MRI pattern in sarcoglycanopathies: upper body pattern and new approaches to assess disease progression
14. P207 Scoliosis progression in spinal muscular atrophy type II and III: a comparative study between treated and untreated patients
15. Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements
16. Neuropsychological and behavioral profile in a cohort of Becker muscular dystrophy pediatric patients
17. Histological effects of givinostat in boys with Duchenne muscular dystrophy
18. Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy
19. Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers
20. Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study
21. Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials
22. 1st Italian SMA Family Association Consensus Meeting:: Management and recommendations for respiratory involvement in spinal muscular atrophy (SMA) types I–III, Rome, Italy, 30–31 January 2015
23. Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1
24. Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test
25. Suitability of North Star Ambulatory Assessment in young boys with Duchenne muscular dystrophy
26. P.147 Deflazacort treatment in LMNA-related congenital muscular dystrophy: an ongoing Italian cohort pilot study
27. P.112 Impact of nusinersen on respiratory progression in paediatric patients with spinal muscular atrophy type 2 and non-ambulant type 3
28. Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients
29. Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy
30. Six minute walk test in type III spinal muscular atrophy: A 12 month longitudinal study
31. Duchenne muscular dystrophy and epilepsy
32. Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort
33. Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy
34. Brown–Vialetto–van Laere and Fazio–Londe overlap syndromes: A clinical, biochemical and genetic study
35. Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency
36. Spectral domain optical coherence tomography findings in myotonic dystrophy
37. Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies
38. P.147 Deflazacort treatment in LMNA-related congenital muscular dystrophy: an ongoing Italian cohort pilot study
39. P.112 Impact of nusinersen on respiratory progression in paediatric patients with spinal muscular atrophy type 2 and non-ambulant type 3
40. North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy
41. Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation
42. APPLICATION OF NEXT GENERATION TECHNOLOGIES
43. LGMD
44. Reliability of the North Star Ambulatory Assessment in a multicentric setting
45. LGMD
46. APPLICATION OF NEXT GENERATION TECHNOLOGIES
47. Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study
48. MUSCLE IMAGING – MRI
49. SMA - CLINICAL
50. Gain and loss of abilities in type II SMA: A 12-month natural history study
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