38 results on '"Gargaun E"'
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2. SMA Clinical Data, Outcome Measures and Registries : P.88Associations between NMR, electrophysiological, strength and function variables in SMA type 2 and 3
3. P.335Phenotypic and genomic characterization as predictors of DMD 45 to 55 multi-exon skipping therapy
4. Innovative home activity monitoring in non-ambulant patients with spinal muscular atrophy: a multicenter observational trial
5. Longitudinal home-monitoring data in non-ambulant patients with Duchenne muscular atrophy
6. New myotubular myopathy classification
7. Associations between NMR, electrophysiological, strength and function variables in SMA type 2 and 3
8. Safety, tolerability and clinical efficacy of nusinersen in SMA type 1 older than 7 months: a prospective study
9. First experience of Nusinersen early access program in patients with spinal muscular atrophy type 1
10. Longitudinal data of the European prospective natural history study of patients with type 2 and 3 spinal muscular atrophy
11. Longitudinal data of patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study
12. Movement monitoring at home and during study visits identifies sources of variability in 6MWT performance in Duchenne muscular dystrophy
13. Baseline data from a European prospective and longitudinal natural history study of patients with type 2 and 3 spinal muscular atrophy – NatHis-SMA
14. Longitudinal results of magneto-inertial motion analysis in Duchenne muscular dystrophy ambulant patients
15. Feasibility of magneto-inertial motion analysis in non-ambulant patients with spinal muscular atrophy
16. Baseline data from patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study
17. P.247 - New myotubular myopathy classification
18. P.250 - Longitudinal data of patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study
19. P.124 - Longitudinal data of the European prospective natural history study of patients with type 2 and 3 spinal muscular atrophy
20. P.328 - Longitudinal results of magneto-inertial motion analysis in Duchenne muscular dystrophy ambulant patients
21. A.O.10 - Movement monitoring at home and during study visits identifies sources of variability in 6MWT performance in Duchenne muscular dystrophy
22. P.92 - Baseline data from patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study
23. P.44 - Baseline data from a European prospective and longitudinal natural history study of patients with type 2 and 3 spinal muscular atrophy – NatHis-SMA
24. P.43 - Feasibility of magneto-inertial motion analysis in non-ambulant patients with spinal muscular atrophy
25. P.383 - First experience of Nusinersen early access program in patients with spinal muscular atrophy type 1.
26. P.382 - Safety, tolerability and clinical efficacy of nusinersen in SMA type 1 older than 7 months: a prospective study.
27. P.429 - Innovative home activity monitoring in non-ambulant patients with spinal muscular atrophy: a multicenter observational trial.
28. P.463 - Longitudinal home-monitoring data in non-ambulant patients with Duchenne muscular atrophy.
29. SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES: P.88Associations between NMR, electrophysiological, strength and function variables in SMA type 2 and 3.
30. P.428 - Associations between NMR, electrophysiological, strength and function variables in SMA type 2 and 3.
31. The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD.
32. [Antisense oligonucleotides in SMA: lessons learned and literature data].
33. X-linked myotubular myopathy: A prospective international natural history study.
34. Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study.
35. miR-708-5p and miR-34c-5p are involved in nNOS regulation in dystrophic context.
36. DMD and West syndrome.
37. Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).
38. EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome.
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