126 results on '"Sewry, C"'
Search Results
2. CONGENITAL MUSCULAR DYSTROPHIES
3. Results of an open label feasibility study of sodium valproate in people with McArdle disease
4. Mutations in INPP5K , Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
5. P.254The clinical and genetic spectrum of a UK cohort of paediatric and adult patients with MYH7 gene related skeletal myopathies
6. P.166Retrospective longitudinal study of patients with NEB-related nemaline myopathy in the United Kingdom
7. P.333LAMA2-related congenital muscular dystrophy: clinical course in a large paediatric cohort
8. P.241Congenital titinopathy as a cause of severe to profound congenital weakness and early death
9. P.83Vacuolar myopathy with valosin containing protein (VCP)-positive intranuclear and cytoplasmic inclusions: report of two cases with early and late childhood-onset disease
10. P.164Expression of alternative nebulin isoforms containing super repeat S21a or S21b in skeletal muscle
11. P.238The Dubowitz neuromuscular centre experience in TTN gene analysis in UK patients with congenital myopathies
12. P.114Clinical, histological, and genetic characterization of PYROXD1-related myopathy
13. P.236Myofibres with subsarcolemmal rims and/or central aggregates of mitochondria (SRCAM) are prevalent in congenital titinopathies
14. P.108Recessive MYH7-related myopathy in two families
15. 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
16. P.158Congenital-onset hypertrophic cardiomyopathy and skeletal myopathy with nemaline rods and actin filament aggregates due to likely pathogenic recessive variants in CFL2
17. P.143Correlation between dystrophin espression and clinical phenotype using high-throughput digital immunoanalysis in Duchenne and Becker muscular dystrophy patients
18. 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
19. Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain
20. CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES
21. NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY
22. MITOCHONDRIAL DISEASES (Posters)
23. CONGENITAL MYOPATHIES: GENERAL AND RYR1
24. CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES
25. CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES
26. CONGENITAL MYOPATHIES: GENERAL AND RYR1
27. Dystrophin quantification in Duchenne and Becker muscular dystrophy: correlation between dystrophin protein and clinical phenotype
28. 169th ENMC International Workshop Rare Structural Congenital Myopathies 6–8 November 2009, Naarden, The Netherlands
29. Recessive mutations in novel gene MST01 cause early onset neuromuscular condition
30. Optimization and implementation of best practices for collection and preparation of muscle biopsies for analysis during clinical trials of neuromuscular disease therapeutics
31. A mouse model with compound heterozygous nebulin mutations recapitulates the typical form of nemaline myopathy
32. Functional characterisation of p.Trp284Ser STAC3 mutation causing impaired excitation-contraction coupling in congenital myopathy patients
33. Classic congenital myopathy with recessive mutations in genes encoding ion channels: clinical phenotype and good response to acetazolamide
34. Unusual findings in a TPM3 case
35. Spinal muscular atrophy with lower extremity predominance: a recognizable phenotype of BICD2 mutations in children
36. KHLH40 mutations causing severe neonatal nemaline myopathy
37. Evaluation of a panel of new monoclonal antibodies to α913-DG
38. Mobility shift of beta-dystroglycan combined with reduced laminin alpha2 expression is a marker of genetic defects in the GMPPB gene
39. Muscle biopsies reprocessed for electron microscopy from paraffin blocks and frozen tissue produce material of sufficient quality for diagnostic use
40. Muscle fibre size revisited: Updated age-stratified normative data in histologically normal/minimal change (HN/MC) paediatric quadriceps biopsies using a high-throughput automated digital script
41. Optimizing dystrophin quantification in DMD and BMD patients: A new semi-automated acquisition and analysis method
42. Investigating sodium valproate as a treatment for McArdle disease in sheep
43. Eight novel UK families further expand current knowledge on GMPPB-gene related dystroglycanopathies
44. Biomarker development to support the clinical development of utrophin modulators for Duchenne muscular dystrophy therapy
45. Congenital muscular dystrophies in the UK population: Update of clinical and molecular spectrum of patients diagnosed over a 12-year period
46. A novel mutation in a patient with a DOK7 congenital myasthenic syndrome
47. Sodium valproate for McArdle disease (glycogen storage disease type V – GSDV)
48. Assessment of a panel of antibodies to myosin heavy chains applied to human skeletal muscle biopsies
49. Clinical data and MRI findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations
50. Investigating sodium valproate as a treatment for McArdle disease in sheep
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