364 results on '"Pestronk, A"'
Search Results
2. Wrong Diagnoses Prior to the Ultimate Diagnosis of Late-onset Pompe Disease: A Multicenter Experience (P3-11.011)
3. Ophthalmoparesis as an Unusual Manifestation of Anti-HMGCR Antibody-related Myopathies (P11-11.007)
4. P281 Quality of life in adults with dysferlinopathy: international clinical outcome study of dysferlinopathy
5. Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs
6. Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern
7. Schwann cells and myelin in human peripheral nerve: Major protein components vary with age, axon size and pathology
8. Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy
9. Sarcoidosis, granulomas and myopathy syndromes: A clinical-pathology review
10. FP.35 Myostatin concentration is unreliable as a biomarker of disease progression in dysferlinopathy
11. Randomized Phase 2 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease
12. Randomized phase 2 study of ACE‐083, a muscle‐promoting agent, in facioscapulohumeral muscular dystrophy
13. A Phase 2, Randomized, Double-Blind, Placebo-Controlled, 48-Week Study of the Efficacy and Safety of Losmapimod in Subjects with FSHD: ReDUX4 (S23.007)
14. Whole Body MRI Quantitative muscle analysis to evaluate Efficacy of Losmapimod in a Phase 2 Placebo-Controlled Study in Subjects with FSHD (ReDUX4) (S23.009)
15. Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach
16. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial
17. Essay I Local Health Departments and a Primary Care Safety Net
18. Rhabdomyolysis-Associated Mutations in Human LPIN1 Lead to Loss of Phosphatidic Acid Phosphohydrolase Activity
19. Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices
20. LGMD
21. Rasch Analysis of the Pediatric Quality of Life Inventory 4.0 Generic Core Scales Administered to Patients With Duchenne Muscular Dystrophy
22. Pathology Features of Immune and Inflammatory Myopathies, Including a Polymyositis Pattern, Relate Strongly to Serum Autoantibodies
23. Prevalence of neuropathy in patients with minimally symptomatic hyperCKemia (2484)
24. Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease
25. Autoantibody Testing in Peripheral Neuropathy
26. Clinical utility of anti‐cytosolic 5’‐nucleotidase 1A antibody in idiopathic inflammatory myopathies
27. Treatable, motor‐sensory, axonal neuropathies with C5b‐9 complement on endoneurial microvessels
28. Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy
29. Muscle Pain and Cramps
30. Contributors
31. Critical Illness Myopathy
32. Contributors
33. Muscle Pain and Cramps
34. FSHD / OPMD / MYOTONIC DYSTROPHY
35. FROM THE SPINAL CORD TO THE MUSCLE
36. Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America
37. Phase 1–2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS
38. Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms
39. Clinical Correlates of Neurofascin Autoantibody Seropositivity (2576)
40. Humoral Immune Microvasculopathy: Treatable Motor-Sensory Axonal Polyneuropathies with C5b-9 Deposition on Endoneurial Microvessels (1993)
41. Results of a Phase 2 Double-Blind Placebo-Controlled Study of a Local Muscle Therapeutic, ACE-083, in Subjects with Charcot-Marie-Tooth (CMT) Disease (1514)
42. Design of a Phase 2, Randomized, Double-Blind, Placebo-Controlled, 24-Week, Parallel-Group Study of the Efficacy and Safety of Losmapimod in Treating Subjects with Facioscapulohumeral Muscular Dystrophy (FSHD): ReDUX4 (1592)
43. Myositis associated anti-NT5C1A autoantibody in clinical practice
44. Considerations for Special Populations
45. Chronic Graft Versus Host Myopathies: Noninflammatory, Multi-Tissue Pathology With Glycosylation Disorders
46. Contributing Authors
47. Polyneuropathies and Antibodies to Nerve Components
48. Cryptogenic small‐fiber neuropathies: Serum autoantibody binding to trisulfated heparan disaccharide and fibroblast growth factor receptor‐3
49. Selection design phase II trial of high dosages of tamoxifen and creatine in amyotrophic lateral sclerosis
50. P.183Functional progression in dysferlinopathy: results of a 3-year natural history study
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