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308 results on '"A. Seferian"'

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3. European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17–19, 2023, Barcelona, Spain

5. Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial

6. Hypertension pulmonaire associée à la gemcitabine : caractéristiques et évolution

7. Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation

9. Colony stimulating factor-1 (CSF-1) signalling is predictive of response to immune checkpoint inhibitors in advanced non-small cell lung cancer

10. Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial

12. The need for carbon emissions-driven climate projections in CMIP7

13. Titin copy number variations associated with dominant inherited phenotypes

14. Sequential multimodal therapy in chronic thromboembolic pulmonary hypertension (CTEPH) with mixed anatomical lesions: a proof of concept

15. P147 Six-year long-term safety and efficacy of Golodirsen in patients with DMD vs mutation-matched external controls

18. Comparing the Safety Action Feedback and Engagement (SAFE) Loop with an established incident reporting system: Study protocol for a pragmatic cluster randomized controlled trial

20. Clinical Phenotype and Outcomes of Pulmonary Hypertension Associated with Myeloproliferative Neoplasms: A Population-based Study

21. Sarcoidosis-Associated Pulmonary Hypertension

22. Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping

23. Effect of weight-adjusted intermediate-dose versus fixed-dose prophylactic anticoagulation with low-molecular-weight heparin on venous thromboembolism among noncritically and critically ill patients with COVID-19: the COVI-DOSE trial, a multicenter, randomised, open-label, phase 4 trial

24. Medication Safety Event Reporting

26. T Cell Responses to Dystrophin in a Natural History Study of Duchenne Muscular Dystrophy

27. Irreversible loss in marine ecosystem habitability after a temperature overshoot

31. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

32. Correction to: Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen

34. VP.24 T Cell-mediated immune response to dystrophin in Duchenne muscular dystrophy - A natural history study

35. O.06 Long term outcomes for X-Linked myotubular Myopathy (XLMTM) with gene replacement therapy, resamirigene bilparvovec: Preliminary results from ASPIRO

36. FP.12 Application for primary endpoint qualification of the 95th centile of stride velocity (SV95C) in Duchenne muscular dystrophy

41. Outcomes of cirrhotic patients with pre-capillary pulmonary hypertension and pulmonary vascular resistance between 2 and 3 Wood Units

44. An emerging phenotype of pulmonary arterial hypertension patients carryingSOX17variants

45. Improved Respiratory Outcomes for X-Linked Myotubular Myopathy (XLMTM) with Gene Replacement Therapy, Resamirigene Bilparvovec (ASPIRO): Preliminary Results from ASPIRO, a Phase 1/2/3 Study

46. Deciphering a New Phenotype of Pulmonary Arterial Hypertension in Patients Carrying SOX17 Variants

47. Respiratory management of spinal muscular atrophy type 1 patients treated with Nusinersen

48. OP018: ASPIRO gene therapy trial in X-Linked Myotubular Myopathy (XLMTM): Update on preliminary efficacy and safety findings

49. OP024: Discovery and therapeutic implications of pathogenic retroelements in neurodegenerative diseases

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