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415 results on '"Leturcq F"'

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1. Prognosis of right ventricular systolic dysfunction in Duchenne muscular dystrophy patients

2. OPALE: A patient registry for Laminopathies and Emerinopathies in France

3. VP.70 OPALE: a patient registry for laminopathies and emerinopathies in France

7. DMD - BIOMARKERS

8. Improved cardiac outcomes by early treatment with angiotensin-converting enzyme inhibitors in becker muscular dystrophy

10. High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients

11. Clinical correlations and long‐term follow‐up in 100 patients with sarcoglycanopathies

14. DMD – BIOMARKERS & OUTCOME MEASURES

15. Novel CAPN3 variant associated with an autosomal dominant calpainopathy

17. LGMD, exercise intolerance, ptosis, ophthalmoplegia and dermatologic features: the phenotypic pleiotropy of plectinopathies in 8 French families

18. Correlation between dystrophin espression and clinical phenotype using high-throughput digital immunoanalysis in Duchenne and Becker muscular dystrophy patients

19. Morphological, ultrastructural and western blot analysis in adult and child with PLEC1-related myopathy

22. LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene

24. Loss of sarcomeric scaffolding as a common baseline histopathologic lesion in titin-related myopathies

26. P.252LGMD, exercise intolerance, ptosis, ophthalmoplegia and dermatologic features: the phenotypic pleiotropy of plectinopathies in 8 French families

27. P.335Phenotypic and genomic characterization as predictors of DMD 45 to 55 multi-exon skipping therapy

28. P.143Correlation between dystrophin espression and clinical phenotype using high-throughput digital immunoanalysis in Duchenne and Becker muscular dystrophy patients

29. P.245Morphological, ultrastructural and western blot analysis in adult and child with PLEC1-related myopathy

33. Clinical correlations and long‐term follow‐up in 100 patients with sarcoglycanopathies.

35. INFLAMMATORY MYOPATHIES

36. CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

37. METABOLIC MYOPATHIES II

39. Dystrophin quantification in Duchenne and Becker muscular dystrophy: correlation between dystrophin protein and clinical phenotype

41. The 107 kD ANO5 protein is decreased in anoctaminopathy patients

42. A national French consensus on gene lists for NGS-based diagnosis of myopathies

44. Integrated analysis of the large-scale sequencing project “Myocapture” to identify novel genes for myopathies

48. OPALE: A patient registry for laminopathies and emerinopathies in France

49. Non-ambulant duchenne patients theoretically treatable by exon 53 skipping have severe phenotype

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