580 results on '"Sacconi, Sabrina"'
Search Results
2. Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation
3. Non-canonical telomere protection role of FOXO3a of human skeletal muscle cells regulated by the TRF2-redox axis
4. Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial
5. Teleconsultations for mental health: Recommendations from a Delphi panel
6. Typical CIDP, distal variant CIDP, and anti-MAG antibody neuropathy: An ultra-high frequency ultrasound comparison of nerve structure
7. Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments
8. Hypersensitivity infusion-associated reactions induced by enzyme replacement therapy in a cohort of patients with late-onset Pompe disease: An experience from the French Pompe Registry
9. The European Lambert–Eaton Myasthenic Syndrome Registry: Long-Term Outcomes Following Symptomatic Treatment
10. Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study
11. SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
12. SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
13. Response to Rozanolixizumab Across Treatment Cycles in Patients with Generalized Myasthenia Gravis: A Post-hoc Analysis (P10-11.005)
14. Drivers of New Rozanolixizumab Treatment Cycles in Patients with Generalized Myasthenia Gravis in the Phase 3 MycarinG and Open-label Extension Studies (P10-11.003)
15. The Safety and Efficacy of Chronic Weekly Rozanolixizumab Treatment in Patients with Generalized Myasthenia Gravis (MG0004) (P4-14.017)
16. Dystrophies musculaires des ceintures associées aux mutations de TRIM32 : cohorte française et revue de la littérature
17. Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy
18. Meeting report: the 2021 FSHD International Research Congress
19. Expanding the importance of HMERF titinopathy: new mutations and clinical aspects
20. Real‐life effectiveness 1 year after switching to avalglucosidase alfa in late‐onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study.
21. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial
22. NEO1/NEO-EXT studies: Long-term muscle quantitative magnetic resonance imaging and functional efficacy in adults with late-onset Pompe disease (LOPD) on avalglucosidase alfa treatment
23. COMET post hoc analysis: Efficacy of long-term avalglucosidase alfa in subgroups of participants with late-onset Pompe disease
24. Efficacy and safety of mexiletine in non-dystrophic myotonias: A randomised, double-blind, placebo-controlled, cross-over study
25. Rozanolixizumab responder and minimal symptom expression rates in generalized myasthenia gravis: Pooled phase 3 and extension studies
26. Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease
27. Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study.
28. A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course
29. Bilateral scapulothoracic arthrodesis for facioscapulohumeral muscular dystrophy: function, fusion, and respiratory consequences
30. Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study
31. Typical CIDP, distal variant CIDP, and anti-MAG antibody neuropathy – an ultra-high frequency ultrasound comparison of nerve structure
32. Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study
33. The FSHD Composite Outcome Measure (FSHD-COM) is Reliable, Valid, and Measures Disease Progression (S7.005)
34. Data from the European registry for patients with McArdle disease (EUROMAC): Functional status and social participation.
35. E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 3rd eNMD Congress: Pisa, Italy, 29–30 October 2021
36. Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment
37. Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study
38. Hyaluronidase‐facilitated subcutaneous immunoglobulin 10% as maintenance therapy for chronic inflammatory demyelinating polyradiculoneuropathy: The ADVANCE‐CIDP 1 randomized controlled trial.
39. FSHD1 and FSHD2 form a disease continuum
40. MT-CYB deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles
41. Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2
42. Reply to the Letter to the Editor in response to “Autoantibody levels as biomarkers of disease activity in management of myasthenia gravis: A systematic review and expert appraisal”
43. Double Trouble Mutations Underlie Mitochondrial Dynamics Disorders in a Severe Form of Charcot-Marie-Tooth Disease
44. Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular disease
45. Characteristics of Patients With Late-Onset Pompe Disease in France.
46. The French National Registry of patients with Facioscapulohumeral muscular dystrophy
47. Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations
48. Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey
49. Role of autoantibody levels as biomarkers in the management of patients with myasthenia gravis: A systematic review and expert appraisal
50. Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity
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