120 results on '"O’Ferrall, Erin"'
Search Results
2. Myositis with prominent B cell aggregates may meet classification criteria for sporadic inclusion body myositis
3. Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing
4. Myositis with prominent B-cell aggregates causing shrinking lung syndrome in systemic lupus erythematosus: a case report
5. A New Mutation in FIG4 Causes a Severe Form of CMT4J Involving TRPV4 in the Pathogenic Cascade
6. BAG3P215L/KO Mice as a Model of BAG3P209L Myofibrillar Myopathy
7. Characterization of brain white matter pathology in spinal muscular atrophy
8. Statin-induced anti-HMGCR myopathy: successful therapeutic strategies for corticosteroid-free remission in 55 patients
9. Motor Outcomes to Validate Evaluations in Facioscapulohumeral muscular dystrophy (MOVE FSHD): Preliminary Baseline Characteristics (S7.004)
10. Capillary pathology with prominent basement membrane reduplication is the hallmark histopathological feature of scleromyositis
11. Scapuloperoneal syndrome with mitochondrial DNA deletion
12. Status and role of PABPN1 nuclear aggregates in Oculopharyngeal Muscular Dystrophy
13. Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion
14. A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method
15. Isoform Specific Variant as a Potential Cause of Distal Myopathy (5080)
16. Acute Reversible Motor Predominant Polyradiculoneuropathy among Thai Prisoners after the Outbreak of H3N2 Influenza: A Case Series
17. Response to Provincial Governments’ Decisions Regarding Monitoring for Adults with Spinal Muscular Atrophy
18. A Molecular Diagnosis of LGMDR1 Established by RNA Sequencing
19. A National Spinal Muscular Atrophy Registry for Real-World Evidence
20. Autoantibody profiles delineate distinct subsets of scleromyositis.
21. Inhibition of Aberrant and Constitutive Phosphorylation of the High-Molecular-Mass Neurofilament Subunit by CEP-1347 (KT7515), an Inhibitor of the Stress-Activated Protein Kinase Signaling Pathway
22. Axial Weakness as the Presenting Manifestation of Myopathy (P2.4-037)
23. Preliminary Results from a Phase 2 Study to Evaluate ACE-083, a Local Muscle Therapeutic, in Patients with Facioscapulohumeral Muscular Dystrophy (S38.001)
24. A Molecular Diagnosis of LGMDR1 Established by RNA Sequencing
25. The Canadian Neuromuscular Disease Registry: Connecting patients to national and international research opportunities
26. RNA-seq for the diagnosis of inherited myopathies: a pilot study (S54.002)
27. A case of LGMD2A caused by a novel splice site mutation identified by RNA-seq (P1.114)
28. BAG3P215L/KOMice as a Model of BAG3P209LMyofibrillar Myopathy
29. Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion
30. Response to Provincial Governments’ Decisions Regarding Monitoring for Adults with Spinal Muscular Atrophy
31. The Canadian Neuromuscular Disease Registry: Connecting patients to national and international research opportunities.
32. Lower motor neuron syndrome due to cauda equina hypertrophy with onion bulbs
33. The Canadian Neuromuscular Disease Registry: Connecting patients to national and international research opportunities
34. Reply
35. Demyelinating symmetric motor polyneuropathy with high titers of anti-GM1 antibodies
36. The role of muscle biopsy in the age of genetic testing
37. Sporadic inclusion body myositis: Pathogenic considerations
38. Inhibition of Aberrant and Constitutive Phosphorylation of the High-Molecular-Mass Neurofilament Subunit by CEP-1347 (KT7515), an Inhibitor of the Stress-Activated Protein Kinase Signaling Pathway
39. A Patient with Bilateral Sciatic Neuropathies
40. Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation
41. Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria
42. Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood.
43. Inhibition of Aberrant and Constitutive Phosphorylation of the High-Molecular-Mass Neurofilament Subunit by CEP-1347 (KT7515), an Inhibitor of the Stress-Activated Protein Kinase Signaling Pathway.
44. MOESM4 of Statin-induced anti-HMGCR myopathy: successful therapeutic strategies for corticosteroid-free remission in 55 patients
45. MOESM1 of Statin-induced anti-HMGCR myopathy: successful therapeutic strategies for corticosteroid-free remission in 55 patients
46. MOESM2 of Statin-induced anti-HMGCR myopathy: successful therapeutic strategies for corticosteroid-free remission in 55 patients
47. MOESM2 of Statin-induced anti-HMGCR myopathy: successful therapeutic strategies for corticosteroid-free remission in 55 patients
48. MOESM5 of Statin-induced anti-HMGCR myopathy: successful therapeutic strategies for corticosteroid-free remission in 55 patients
49. MOESM4 of Statin-induced anti-HMGCR myopathy: successful therapeutic strategies for corticosteroid-free remission in 55 patients
50. MOESM5 of Statin-induced anti-HMGCR myopathy: successful therapeutic strategies for corticosteroid-free remission in 55 patients
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