26 results on '"Dubourg O"'
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2. DISTAL MYOPATHIES: EP.75 Functional validation of a novel variant of the SPTAN1 gene identified in a family with distal motor myopathy with nerve involvement
3. Loss-of-function mutation of TRIP4 causes a novel form of congenital muscle disease and reveals the transcription coactivator ASC-1 as a new regulator of skeletal myogenesis
4. Oedematous myositis: An original subtype of autoimmune myopathy characterised by intense C5-b9 deposits
5. Charcot–Marie–Tooth type 4B1 (MTMR2 gene): Confounding clinical presentation and report of 5 original mutations
6. G.O.22 - Oedematous myositis: An original subtype of autoimmune myopathy characterised by intense C5-b9 deposits
7. P.99 - Loss-of-function mutation of TRIP4 causes a novel form of congenital muscle disease and reveals the transcription coactivator ASC-1 as a new regulator of skeletal myogenesis
8. P.14.11 Auto-immune necrotizing myopathies with anti-HMGCR antibodies are related to statin-exposure only for a minority of cases
9. G.P.332 - Charcot–Marie–Tooth type 4B1 (MTMR2 gene): Confounding clinical presentation and report of 5 original mutations
10. P5.26 Myopathy associated with HIV, a review of 50 muscle biopsies
11. P5.62 Garches muscle Whole-Body MRI protocol: Pattern recognition in early onset neuromuscular disorders
12. G.P.16.07 Inflammatory myopathies with anti-Ku antibodies: Characteristics and follow up of 28 patients
13. G.P.16.06 Anti-SRP antibody myopathies: clinical characteristics and follow-up of 24 patients
14. EM.P.4.10 Severe hand contractures and abnormal collagen VI secretion not due to mutations in the COL6 genes: A novel entity?
15. G.P.16.01 Expression of myogenic regulatory factors and myo-regeneration in inflammatory myopathies
16. G.P.5.10 Role of regulatory T cells in a new mouse model of experimental autoimmune myositis
17. D.P.3.01 Immunohistochemical and ultrastructural findings in myofibrillar myopathies
18. D.P.3.02 Desminopathies: What can we learn from a long term follow-up?
19. Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene
20. C.O.2 Efficacy of autologous stem cell transplantation in a patient with late-onset nemaline myopathy and monoclonal gammopathy
21. G.P.11.12 Phenotypical features of 11 Moroccan families with autosomal recessive Charcot-Marie-Tooth disease associated with mutations in the GDAP1 gene
22. G.P.7.11 Digenism as a cause of oculopharyngodistal myopathy
23. Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene
24. The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity
25. Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies
26. P.14.11 Auto-immune necrotizing myopathies with anti-HMGCR antibodies are related to statin-exposure only for a minority of cases.
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