170 results on '"Sewry C"'
Search Results
2. Investigating sodium valproate as a treatment for McArdle disease in sheep
3. Myopathology in congenital myopathies
4. Muscle biopsies reprocessed for electron microscopy from paraffin blocks and frozen tissue produce material of sufficient quality for diagnostic use: O25
5. CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES
6. Confusing muscle pathology in a child with distal weakness: P31
7. Unique brick-red auto-fluorescence of reducing bodies and protein aggregates is a useful diagnostic biopsy marker for FHL1-associated myopathies: O21
8. EPG5-related Vici syndrome defines a new group of multisystem disorders due to defects in membrane trafficking and autophagy
9. Clinical phenotype of a novel mitochondrial disorder associated with mutations in MICU1
10. High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients
11. Results of an open label feasibility study of sodium valproate in people with McArdle disease
12. CONGENITAL MUSCULAR DYSTROPHIES
13. Results of an open label feasibility study of sodium valproate in people with McArdle disease
14. Mutations in INPP5K , Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
15. Correlation between dystrophin espression and clinical phenotype using high-throughput digital immunoanalysis in Duchenne and Becker muscular dystrophy patients
16. Correlation of utrophin levels with the dystrophin protein complex and muscle fibre regeneration in Duchenne and Becker muscular dystrophy muscle biopsies
17. The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations
18. 1st ENMC European meeting: The EURO-NMD pathology working group Recommended Standards for Muscle Pathology Amsterdam, The Netherlands, 7 December 2018
19. P.254The clinical and genetic spectrum of a UK cohort of paediatric and adult patients with MYH7 gene related skeletal myopathies
20. P.166Retrospective longitudinal study of patients with NEB-related nemaline myopathy in the United Kingdom
21. P.333LAMA2-related congenital muscular dystrophy: clinical course in a large paediatric cohort
22. P.241Congenital titinopathy as a cause of severe to profound congenital weakness and early death
23. P.83Vacuolar myopathy with valosin containing protein (VCP)-positive intranuclear and cytoplasmic inclusions: report of two cases with early and late childhood-onset disease
24. P.164Expression of alternative nebulin isoforms containing super repeat S21a or S21b in skeletal muscle
25. P.238The Dubowitz neuromuscular centre experience in TTN gene analysis in UK patients with congenital myopathies
26. P.114Clinical, histological, and genetic characterization of PYROXD1-related myopathy
27. P.236Myofibres with subsarcolemmal rims and/or central aggregates of mitochondria (SRCAM) are prevalent in congenital titinopathies
28. P.108Recessive MYH7-related myopathy in two families
29. P.387A novel in situ hybridisation (ISH) assay mapping the in-frame pseudoexon 11 (pE11) expression in cultured dermal fibroblasts (CDF) and skeletal muscle in patients with severe collagen VI disease due to a deep intronic mutation in COL6A1
30. P.158Congenital-onset hypertrophic cardiomyopathy and skeletal myopathy with nemaline rods and actin filament aggregates due to likely pathogenic recessive variants in CFL2
31. P.143Correlation between dystrophin espression and clinical phenotype using high-throughput digital immunoanalysis in Duchenne and Becker muscular dystrophy patients
32. P.145Optimisation of a high–throughput digital script for multiplexed immunofluorescent analysis of sarcolemmal dystrophin - associated protein complex (DPC) and myofibre regeneration in entire transverse sections of muscle biopsies in Duchenne muscular dystrophy
33. Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain
34. CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES
35. NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY
36. MITOCHONDRIAL DISEASES (Posters)
37. CONGENITAL MYOPATHIES: GENERAL AND RYR1
38. CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES
39. CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES
40. CONGENITAL MYOPATHIES: GENERAL AND RYR1
41. Dystrophin quantification in Duchenne and Becker muscular dystrophy: correlation between dystrophin protein and clinical phenotype
42. Inclusion body myositis: MRC Centre for Neuromuscular Diseases, IBM workshop, London, 13 June 2008
43. Inclusion body myositis: A diagnostic challenge
44. Reversible Infantile Respiratory Chain Deficiency is a Genetically Heterogenous Mitochondrial Disease
45. Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials (vol 134, pg 3547, 2011)
46. Recessive mutations in novel gene MST01 cause early onset neuromuscular condition
47. Optimization and implementation of best practices for collection and preparation of muscle biopsies for analysis during clinical trials of neuromuscular disease therapeutics
48. A mouse model with compound heterozygous nebulin mutations recapitulates the typical form of nemaline myopathy
49. Functional characterisation of p.Trp284Ser STAC3 mutation causing impaired excitation-contraction coupling in congenital myopathy patients
50. Classic congenital myopathy with recessive mutations in genes encoding ion channels: clinical phenotype and good response to acetazolamide
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