27 results on '"Ben Yaou, R"'
Search Results
2. P.142Very low residual dystrophin levels mitigate dystrophinopathy towards Becker muscular dystrophy
3. P.256Steroid treatment may change natural history in young children with LMNA mutations and dropped head syndrome
4. P.252LGMD, exercise intolerance, ptosis, ophthalmoplegia and dermatologic features: the phenotypic pleiotropy of plectinopathies in 8 French families
5. P.335Phenotypic and genomic characterization as predictors of DMD 45 to 55 multi-exon skipping therapy
6. P.245Morphological, ultrastructural and western blot analysis in adult and child with PLEC1-related myopathy
7. EP.58A late onset case of Becker muscular dystrophy
8. Cardiometabolic assessment of lamin A/C gene mutation carriers: a phenotype–genotype correlation
9. LGMD AUTOSOMAL RESSESSIVE AND DOMINANT
10. Novel recessive splice site mutation in POPDC1 ( BVES ) is associated with first-degree atrioventricular block and muscular dystrophy
11. Genetic characterization of a French cohort of GNE -mutation negative inclusion body myopathy patients using exome sequencing
12. A novel INPP5K mutation in a sibship from the Reunion Island
13. Corticosteroid treatment in early-onset lamin A/C related muscular dystrophies
14. First results from the international LMNA -related congenital and childhood onset muscular dystrophy retrospective natural history study
15. Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC
16. Exome sequencing identifies novel truncating TTN mutations with Emery–Dreifuss like muscular dystrophy and secondary calpain3 deficiency without cardiac abnormality
17. G.P.142
18. G.P.181
19. P.5.16 Predominant right ventricular involvement in patients with laminopathies
20. Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy
21. G.P.75 Variable phenotype of del45–55 Becker patients correlated to nNOSμ mislocalization and RYR1 hypernitrosylation
22. D.P.2 Next generation sequencing after selected DNA capture as a tool for molecular diagnosis of neuromuscular disorders
23. G.P.5.02 LMNA is responsible for a recognisable form of congenital muscular dystrophy associated with selective axial muscle weakness and progressive course (L-CMD)
24. G.P.9.10 Clinical development of the French UMD–DMD database
25. M - 8 Développements cliniques de la future banque de données nationale des mutations du gène DMD (UMD-DMD)
26. Errance diagnostique dans les myopathies mitochondriales : étude de 12 patients thymectomisés
27. La dystrophie musculaire des ceintures autosomique dominante associée à des troubles de la conduction cardiaque (LGMD1B). Description de 8 nouvelles familles avec mutations du gène LMNA
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