96 results on '"REILLY, MARY M."'
Search Results
2. Treating TTR amyloidosis – early diagnosis is essential
3. Quantitative MRI outcome measures in CMT1A using automated lower limb muscle segmentation
4. Nutritional peripheral neuropathies
5. Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.
6. Nutritional peripheral neuropathies.
7. IntronicFGF14GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy
8. Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease
9. Exploratory analysis of lower limb muscle MRI in a case series of patients with SORD neuropathy
10. IVIg-exposure and thromboembolic event risk: findings from the UK Biobank
11. 100 All that glitters is not GARS
12. 101 Neuromuscular MRI in assessment of variants of unknown significance in inherited neuropathy and associated disorders
13. Charcot-Marie-Tooth disease secondary to biallelic mutations in SORD
14. Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis
15. Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease
16. An observational study of asymmetry in CMT1A
17. Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype
18. Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy
19. Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation
20. Obstructive sleep apnoea, restless leg syndrome and Charcot-Marie-Tooth disease type 1: important associations
21. RFC1 CANVAS: the expanding phenotype
22. EMERGENCY NEUROMUSCULAR ADMISSIONS ARE AVOIDABLE: A REGIONAL AUDIT OF UNPLANNED HOSPITAL ADMISSIONS OF NEUROMUSCULAR PATIENTS 2009–2011: FINAL RESULTS AND RECOMMENDATIONS
23. Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2
24. Tremor in inflammatory neuropathies
25. The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits
26. Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls
27. Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing
28. Anti Ma2-associated myeloradiculopathy: expanding the phenotype of anti-Ma2 associated paraneoplastic syndromes
29. Mutation in FAM134B causing severe hereditary sensory neuropathy
30. The distal hereditary motor neuropathies
31. Rituximab in the treatment of three coexistent neurological autoimmune diseases: chronic inflammatory demyelinating polyradiculoneuropathy, Morvan syndrome and myasthenia gravis
32. Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic
33. Humans: the ultimate animal models
34. Exploratory analysis of lower limb muscle MRI in a case series of patients with SORD neuropathy.
35. Charcot-Marie-Tooth disease type 2CC due to variants causes a progressive, non-length-dependent, motor-predominant phenotype.
36. Treating TTR amyloidosis - early diagnosis is essential.
37. 086 Clinical, investigational and treatment factors do not determine prognosis of patients with inflammatory neuropathies
38. Expanding the spectrum of genes responsible for hereditary motor neuropathies
39. Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1
40. FM1-4 Intraneural perineuriomas: radiologically classic, clinically varied
41. CNS phenotype in X linked Charcot- Marie-Tooth disease
42. THUR 220 To c or not to c
43. PO201 A survey on employment in charcot-marie-tooth disease in UK
44. PO202 Natural history study in hereditary sensory neuropathy type 1
45. High prevalence of the MYD88 L265P mutation in IgM anti-MAG paraprotein-associated peripheral neuropathy
46. Peripheral neuropathy in complex inherited diseases: an approach to diagnosis
47. Genetic and clinical characteristics ofNEFL-related Charcot-Marie-Tooth disease
48. Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease.
49. Differentiating lower motor neuron syndromes
50. Differentiating lower motor neuron syndromes.
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