415 results on '"Leturcq F"'
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2. OPALE: A patient registry for Laminopathies and Emerinopathies in France
3. VP.70 OPALE: a patient registry for laminopathies and emerinopathies in France
4. 508 Skin barrier defect and inflammation in Netherton syndrome: Lessons from a comparative study of patients and mouse models
5. Dilated cardiomyopathy in patients with mutations in anoctamin 5
6. Miyoshi-like distal myopathy with mutations in anoctamin 5 gene
7. DMD - BIOMARKERS
8. Improved cardiac outcomes by early treatment with angiotensin-converting enzyme inhibitors in becker muscular dystrophy
9. 117 Molecular signatures of skin barrier defect and inflammation in Netherton syndrome uncovered by comparing patients to viable Spink5 knock-out mice
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
12. Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?
13. LIMB GIRDLE MUSCULAR DYSTROPHIES
14. DMD – BIOMARKERS & OUTCOME MEASURES
15. Novel CAPN3 variant associated with an autosomal dominant calpainopathy
16. Complete fatty degeneration of lumbar erector spinae muscles caused by a primary dysferlinopathy
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
20. Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy
21. Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay
22. LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene
23. Reliable detection of early myocardial dysfunction by tissue Doppler echocardiography in Becker muscular dystrophy
24. Loss of sarcomeric scaffolding as a common baseline histopathologic lesion in titin-related myopathies
25. P.142Very low residual dystrophin levels mitigate dystrophinopathy towards Becker muscular dystrophy
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
30. EP.58A late onset case of Becker muscular dystrophy
31. 200 Transgenic kallikrein 14 mice display major hair defects associated with desmoglein 3 and 4 degradation and an inflammatory signature
32. Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)
33. Clinical correlations and long‐term follow‐up in 100 patients with sarcoglycanopathies.
34. DMD - BIOMARKERS: EP.157 Digital quantitative analysis of dystrophin and utrophin expression in muscle biopsies from female carriers of dystrophinopathy
35. INFLAMMATORY MYOPATHIES
36. CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES
37. METABOLIC MYOPATHIES II
38. LB1542 A conditional Spink5 knock-out mouse model of Netherton syndrome
39. Dystrophin quantification in Duchenne and Becker muscular dystrophy: correlation between dystrophin protein and clinical phenotype
40. Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis
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
43. Limb-girdle muscular dystrophy related to LAMA2 mutations: an unusual familial coincidence responsible for the phenotypic variability and diagnostic difficulties
44. Integrated analysis of the large-scale sequencing project “Myocapture” to identify novel genes for myopathies
45. Diagnostic anoctamin‐5 protein defect in patients with ANO5‐mutated muscular dystrophy
46. Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T)
47. HyperCKemia and myalgia are the most common presentation of anoctamin-5 (ANO5) related myopathy in French patients
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
50. Aspects génétiques et moléculaires des dystrophinopathies
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