120 results on '"Meilleur K"'
Search Results
2. P236 Rod-less dystrophin may exert a dominant negative effect by interfering with utrophin's function
3. P416 Systemic NAD+ deficiency reveals a potential therapeutic target for RYR1-related myopathies
4. P.08 Phase 1 open-label trial of Rycal S48168 (ARM210) for RYR1-related myopathies
5. CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES
6. COLLAGEN RELATED MUSCLE DISEASES
7. Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19
8. Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease
9. Clinical and genetic analysis of spinocerebellar ataxia in Mali
10. CONGENITAL MYOPATHIES 1 – NEMALINE
11. CONGENITAL MYOPATHIES: GENERAL AND RYR1
12. CONGENITAL MYOPATHIES: GENERAL AND RYR1
13. CONGENITAL MUSCULAR DYSTROPHIES
14. CONGENITAL MUSCULAR DYSTROPHIES
15. Skeletal muscle oxidative stress is related to functional outcome measures in ryanodine receptor 1-related congenital myopathies
16. Motor performance and disease progression in RYR1 -RM
17. 6-Minute walk test as a fatigability measure in RYR1 -related myopathies
18. A novel approach to genotype-phenotype profiling for ryanodine receptor 1-related myopathies
19. Skeletal muscle oxygenation in adults with RYR1-related myopathies: Exploratory study
20. Serum biomarker discovery for congenital muscular dystrophies
21. Local muscle strength, oxygen extraction capacity, and exercise capacity in adults with RYR1-related myopathies: Exploratory study
22. Development of a proxy motor outcome measurement scale in young children with neuromuscular disorders
23. Qualitative comparison of healthy versus affected muscles by ultrasound imaging in RYR1-related myopathies
24. Antioxidant therapy in RYR1-related myopathies
25. Validation of FACIT-F and MFI-20 questionnaires in individuals with RYR1-RM
26. Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability
27. Electrical impedance myography as a potential biomarker in individuals with COL6-related dystrophy
28. Literature synthesis of RyR1 and its interacting proteins
29. Comparison of upper extremity measures in individuals with COL6 and LAMA2-muscular dystrophies
30. Validation of actiGraph GT3X accelerometers in collagen 6-related muscular dystrophy and LAMA2-related muscular dystrophy
31. G.P.214
32. T.P.48
33. Développement et validation de la version anglaise du NM-Score : une classification fonctionnelle pour les patients atteints de maladies neuromusculaires
34. P.345 - Serum biomarker discovery for congenital muscular dystrophies
35. P.207 - Development of a proxy motor outcome measurement scale in young children with neuromuscular disorders
36. P.169 - Validation of FACIT-F and MFI-20 questionnaires in individuals with RYR1-RM
37. P.166 - Antioxidant therapy in RYR1-related myopathies
38. P.161 - Local muscle strength, oxygen extraction capacity, and exercise capacity in adults with RYR1-related myopathies: Exploratory study
39. P.160 - Skeletal muscle oxygenation in adults with RYR1-related myopathies: Exploratory study
40. P.28 - Qualitative comparison of healthy versus affected muscles by ultrasound imaging in RYR1-related myopathies
41. P.13.9 Acoustic radiation force impulse imaging for the differentiation of muscle tissue stiffness in neuromuscular disorders
42. P.1.14 Knee extensor muscle force correlates with and may predict sit to stand ability in congenital muscular dystrophy
43. P.10.9 A cross sectional validation study of the English version of the NM-Score in patients with neuromuscular diseases
44. D.P.22 Muscle ultrasound as a consistent imaging marker for RYR1 related myopathies
45. G.P.22 Possible mutation dependent mechanisms for intra-familial variation of severity in Collagen VI-Related Myopathies (COL6-RM)
46. G.P.31 MYH7 gene mutation related myopathies of skeletal and cardiac muscle
47. P3.48 Exome sequencing with linkage analysis identifies a novel ACTA1 variant in a large family with progressive muscle weakness
48. G.P.265 - Validation of actiGraph GT3X accelerometers in collagen 6-related muscular dystrophy and LAMA2-related muscular dystrophy
49. G.P.263 - Comparison of upper extremity measures in individuals with COL6 and LAMA2-muscular dystrophies
50. G.P.264 - Electrical impedance myography as a potential biomarker in individuals with COL6-related dystrophy
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