510 results on '"Servais, Laurent"'
Search Results
2. Meaningful changes in motor function in Duchenne muscular dystrophy (DMD): A multi-center study.
3. Quantitative measures of motor development in Angelman syndrome
4. Author Correction: miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy
5. Clinical and genetic features of patients suffering from CMT4J
6. DMD Genotypes and Motor Function in Duchenne Muscular Dystrophy: A Multi-institution Meta-analysis With Implications for Clinical Trials.
7. Quantitative proteome analysis of LAP1-deficient human fibroblasts: A pilot approach for predicting the signaling pathways deregulated in LAP1-associated diseases
8. 2024 update: European consensus statement on gene therapy for spinal muscular atrophy
9. Thrombotic Microangiopathy as an Emerging Complication of Viral Vector–Based Gene Therapy
10. Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in England
11. Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec
12. Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
13. The use of digital outcome measures in clinical trials in rare neurological diseases: a systematic literature review
14. Evolving regulatory perspectives on digital health technologies for medicinal product development
15. Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)
16. Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom
17. A systematic review of immunosuppressive protocols used in AAV gene therapy for monogenic disorders
18. Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium
19. First regulatory qualification of a digital primary endpoint to measure treatment efficacy in DMD
20. Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen
21. Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial
22. Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
23. Correction to: Two‑year efficacy and safety of risdiplam in patients with type 2 or non‑ambulant type 3 spinal muscular atrophy (SMA)
24. First Regulatory Qualification of a Novel Digital Endpoint in Duchenne Muscular Dystrophy: A Multi-Stakeholder Perspective on the Impact for Patients and for Drug Development in Neuromuscular Diseases.
25. Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping
26. Leveraging Natural History Data in One- and Two-Arm Hierarchical Bayesian Studies of Rare Disease Progression
27. Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial
28. Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial
29. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial
30. Emerging therapies for Duchenne muscular dystrophy
31. Real-world and natural history data for drug evaluation in Duchenne muscular dystrophy: suitability of the North Star Ambulatory Assessment for comparisons with external controls
32. Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies
33. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial
34. Impact of Disease Severity and Disease-Modifying Therapies on Myostatin Levels in SMA Patients.
35. Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium.
36. Relationship Between Hand Strength and Function in Duchenne Muscular Dystrophy and Spinal Muscular Atrophy: Implications for Clinical Trials.
37. Scoring People With Spinal Muscular Atrophy on the Motor Function Measure Using the Microsoft Kinect
38. A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy
39. Newborn screening of neuromuscular diseases
40. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial
41. Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go
42. Correction to: Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen
43. Global versus individual muscle segmentation to assess quantitative MRI-based fat fraction changes in neuromuscular diseases
44. A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA).
45. Patients' Perceptions of Nusinersen Effects According to Their Responder Status.
46. Stride Velocity 95th Centile Detects Decline in Ambulatory Function Over Shorter Intervals than the 6-Minute Walk Test or North Star Ambulatory Assessment in Duchenne Muscular Dystrophy.
47. Titin copy number variations associated with dominant inherited phenotypes.
48. European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy
49. Oligo-astrocytoma in LZTR1-related Noonan syndrome
50. Normative data on spontaneous stride velocity, stride length, and walking activity in a non-controlled environment
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