870 results on '"Sewry C"'
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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. Inclusion body myositis: MRC Centre for Neuromuscular Diseases, IBM workshop, London, 13 June 2008
6. CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES
7. Confusing muscle pathology in a child with distal weakness: P31
8. Unique brick-red auto-fluorescence of reducing bodies and protein aggregates is a useful diagnostic biopsy marker for FHL1-associated myopathies: O21
9. EPG5-related Vici syndrome defines a new group of multisystem disorders due to defects in membrane trafficking and autophagy
10. Clinical phenotype of a novel mitochondrial disorder associated with mutations in MICU1
11. High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients
12. Congenital Myasthenic Syndromes in childhood: Diagnostic and management challenges
13. McArdle disease: a clinical review
14. Pathological markers that can help direct molecular diagnosis of nemaline myopathy: O09
15. The expression of embryonic and foetal myosin heavy chain isoforms in human muscle are useful indicators of abnormality in muscle biopsies: P23
16. The confounding effect of age in the use of subsarcolemmal mitochondrial aggregates (SSMA) as a diagnostic muscle biopsy marker in paediatric mitochondrial disease: O10
17. Evaluation of classical and novel histopathological features in the diagnosis of inclusion body myositis: O08
18. Multiple mitochondrial DNA deletions in monozygotic twins with OPMD
19. Results of an open label feasibility study of sodium valproate in people with McArdle disease
20. Congenital muscular dystrophy: molecular and cellular aspects
21. THE CONFOUNDING EFFECT OF AGE IN THE USE OF SUBSARCOLEMMAL MITOCHONDRIAL AGGREGATES (SSMA) AS A DIAGNOSTIC MUSCLE BIOPSY MARKER IN PAEDIATRIC MITOCHONDRIAL DISEASE: 21
22. Natural history of congenital myopathies: a retrospective study
23. Recessive mutations in KIAA1632 cause Vici syndrome, a multisystem disorder with defective autophagy
24. An unusual rod-core myopathy with distal weakness: a case report: O13
25. Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy?
26. Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease
27. Systemic administration of AVI-4658, a phosphorodiamidate morpholino oligomer to induce exon 51 skipping, is well tolerated and restores dystrophin expression in male children with Duchenne muscular dystrophy in a dose-dependent manner
28. CONGENITAL MUSCULAR DYSTROPHIES
29. Results of an open label feasibility study of sodium valproate in people with McArdle disease
30. Muscular dystrophies: an update on pathology and diagnosis: S5-1
31. Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression
32. Electron microscopic X-ray microanalysis of elements in normal and dystrophic human muscle
33. Mutations in INPP5K , Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
34. Localization of laminin α2 chain in normal human central nervous system: an immunofluorescence and ultrastructural study
35. THE LONG TERM HISTOLOGICAL EFFECTS OF BOTULINUM TOXIN IN GASTROCNEMIUS AFFECTED BY CEREBRAL PALSY DIPLEGIA
36. Dystrophin positive revertant fibres do not increase with age in Duchenne muscular dystrophy
37. Congenital myasthenic syndromes in childhood: diagnostic pitfalls and management issues
38. Correlation between dystrophin espression and clinical phenotype using high-throughput digital immunoanalysis in Duchenne and Becker muscular dystrophy patients
39. Correlation of utrophin levels with the dystrophin protein complex and muscle fibre regeneration in Duchenne and Becker muscular dystrophy muscle biopsies
40. Expression of laminin subunits in human fetal skeletal muscle
41. Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome?
42. The Distribution of Emerin and Lamins in X-Linked Emery-Dreifuss Muscular Dystrophy
43. Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins
44. Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene
45. The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations
46. 1st ENMC European meeting: The EURO-NMD pathology working group Recommended Standards for Muscle Pathology Amsterdam, The Netherlands, 7 December 2018
47. Phenotypic variability in siblings with type III spinal muscular atrophy
48. Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions
49. Central core disease: clinical, pathological, and genetic features
50. Central core disease: new findings in an old disease
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