48 results on '"Milone, Margherita"'
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2. Provisional practice recommendation for the management of myopathy in VCP ‐associated multisystem proteinopathy
3. Multisystem proteinopathies (MSPs) and MSP‐like disorders: Clinical‐pathological‐molecular spectrum
4. Reply to: Atypical presentations of immune‐mediated necrotizing myopathy: Clues and caveats
5. Incidence and prevalence of immune‐mediated necrotizing myopathy in adults in Olmsted County, Minnesota
6. Immune‐mediated necrotizing myopathy: Unusual presentations of a treatable disease
7. Interstitial amyloidosis in sporadic inclusion body myositis
8. Guidelines for genetic testing of muscle and neuromuscular junction disorders
9. Anti‐cN1A antibodies do not correlate with specific clinical, electromyographic, or pathological findings in sporadic inclusion body myositis
10. Myopathies featuring early or prominent dysphagia
11. Myopathies with finger flexor weakness: Not only inclusion‐body myositis
12. GYG1: A distal myopathy with polyglucosan bodies
13. Transthyretin amyloidosis: Putting myopathy on the map
14. Slow‐channel myasthenia due to novel mutation in M2 domain of AChR delta subunit
15. Neuromuscular transmission defects in myopathies
16. Neuromuscular transmission defects in myopathies: rare but worth searching for
17. The unfolding spectrum of inherited distal myopathies
18. Intramuscular interstitial amyloid deposition does not impact anoctaminopathy-5 phenotype
19. Untangling the complexity of limb‐girdle muscular dystrophies
20. Myofibrillar myopathy due to dominant LMNA mutations: A report of 2 cases
21. RYR1 causing distal myopathy
22. Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21
23. An adult with a rare form of congenital fiber type disproportion
24. Hereditary myopathies with early respiratory insufficiency in adults
25. Rapsyn congenital myasthenic syndrome worsened by fluoxetine
26. Reply
27. Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations
28. Signal recognition particle immunoglobulin g detected incidentally associates with autoimmune myopathy
29. Clinical spectrum of valosin containing protein (VCP)‐opathy
30. Camptocormia as presenting manifestation of a spectrum of myopathic disorders
31. Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man
32. A novel VCP mutation underlies scapuloperoneal muscular dystrophy and dropped head syndrome featuring lobulated fibers
33. DNAJB6 myopathy: A vacuolar myopathy with childhood onset
34. Focal and other unusual presentations of facioscapulohumeral muscular dystrophy
35. Myotonia associated with caveolin‐3 mutation
36. Poster 233: Inclusion Body Myositis: Assessment of Weakness Patterns Using Quantitative Muscle Testing
37. Absent, unrecognized, and minimal myotonic discharges in myotonic dystrophy type 2
38. Exercise intolerance due to cytochromebmutation
39. Reply to: Myotonic disorder without myotonia?
40. Myotonic dystrophy type 2 with focal asymmetric muscle weakness and no electrical myotonia
41. Sporadic late onset nemaline myopathy responsive to IVIg and immunotherapy
42. Dok‐7 myasthenia: Phenotypic and molecular genetic studies in 16 patients
43. The spectrum of mutations causing end-plate acetylcholinesterase deficiency
44. Congenital Myasthenic Syndrome Caused by Novel Loss-of-Function Mutations in the Human AChR e Subunit Genea
45. Congenital Myasthenic Syndromes: New Insights from Molecular Genetic and Patch-Clamp Studiesa
46. Combined low-rate nerve stimulation and maximal voluntary contraction in the detection of compound muscle action potential facilitation in Lambert-Eaton myasthenic syndrome
47. Low-rate nerve stimulation during regional ischemia in the diagnosis of muscle glycogenosis
48. Patch‐clamp analysis of the properties of acetylcholine receptor channels at the normal human endplate
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