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65 results on '"Laforet, Pascal"'

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2. Real-world data of in-hospital administration of alglucosidase alfa in French patients with Pompe disease: results from the National Claims Database.

3. Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024.

4. Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.

5. Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis.

6. Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.

7. Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy.

8. Determinants and Characterization of Locomotion in Adults with Late-Onset Pompe Disease: New Clinical Biomarkers.

9. Therapeutic thoroughfares for adults living with Pompe disease.

10. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.

11. Unravelling the impact of frontal lobe impairment for social dysfunction in myotonic dystrophy type 1.

12. Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles.

13. High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.

14. Determinants of diaphragm inspiratory motion, diaphragm thickening, and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophy.

15. Nutritional status, swallowing disorders, and respiratory prognosis in adult Duchenne muscular dystrophy patients.

16. Sirolimus for treatment of patients with inclusion body myositis: a randomised, double-blind, placebo-controlled, proof-of-concept, phase 2b trial.

18. European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).

19. Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations.

20. Progress and challenges of gene therapy for Pompe disease.

21. Congenital myopathies are mainly associated with a mild cardiac phenotype.

22. FSHD1 and FSHD2 form a disease continuum.

23. Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.

24. Diaphragm sniff ultrasound: Normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with neuromuscular disorders.

25. Assessment of diaphragm motion using ultrasonography in a patient with facio-scapulo-humeral dystrophy: A case report.

26. Echographic Assessment of Diaphragmatic Function in Duchenne Muscular Dystrophy from Childhood to Adulthood.

28. Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.

29. Isokinetic assessment of trunk muscles in facioscapulohumeral muscular dystrophy type 1 patients.

30. Effect and impact of mechanical ventilation in myotonic dystrophy type 1: a prospective cohort study.

31. Effects of Home Mechanical Ventilation on Left Ventricular Function in Sarcoglycanopathies (Limb Girdle Muscular Dystrophies).

32. Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression.

33. Genotype and other determinants of respiratory function in myotonic dystrophy type 1.

34. Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis.

35. Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders.

36. Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.

37. Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.

38. Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase.

39. Clinical profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation.

40. Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.

41. The diagnostic value of hyperammonaemia induced by the non-ischaemic forearm exercise test.

42. A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.

43. 1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15-16 November 2016, Evry, France.

44. Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α.

45. Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms.

46. Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D.

47. Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.

48. Should patients with asymptomatic pompe disease be treated? A nationwide study in France.

49. Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases.

50. Anti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statin.

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