71 results on '"Blake, Julian"'
Search Results
2. Intermediate conduction velocity in two cases of Charcot−Marie−Tooth disease type 1A
3. Digenic FLNA and UCHL1 variants resulting in a complex phenotype
4. Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts
5. SARS1 (SerRS) causing de novo dominant Charcot‐Marie‐Tooth disease with slow conduction
6. Pregnancy as trigger of central nervous system dysfunction in type 1 X‐linked Charcot–Marie–Tooth disease
7. Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1
8. Exploratory analysis of lower limb muscle MRI in a case series of patients with SORD neuropathy
9. 127 ACTA1 associated myopathy with neurogenic EMG changes
10. 135 CMT with renal impairment: consider a dip
11. Neurology and the histiocytoses: a case of Rosai-Dorfman-Destombes disease
12. Unusual upper limb features in SORD neuropathy
13. Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype
14. Electrophysiology
15. SIMOX (Separation by Implantation of Oxygen)
16. Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre
17. A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs)
18. Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1
19. Prognostic factors for response to treatment by corticosteroid injection or surgery in carpal tunnel syndrome (palms study): A prospective multicenter cohort study
20. The relationship between sports sponsorships and corporate financial returns in South Africa
21. Integration of a particle monitor into the control system for an ion implanter
22. IGHMBP2 mutation associated with organ-specific autonomic dysfunction
23. Sensory neuronopathy associated with cholangiocarcinoma diagnosed 6 years after symptom onset
24. PO202 Natural history study in hereditary sensory neuropathy type 1
25. Association of psychological distress, quality of life and costs with carpal tunnel syndrome severity: a cross-sectional analysis of the PALMS cohort
26. A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder
27. Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy
28. Genetic and clinical characteristics ofNEFL-related Charcot-Marie-Tooth disease
29. Mutations in noncoding regions ofGJB1are a major cause of X-linked CMT
30. Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene
31. SIGMAR1mutation associated with autosomal recessive Silver-like syndrome
32. Using Transcranial Magnetic Stimulation to Evaluate the Motor Pathways After an Intraoperative Spinal Cord Injury and to Predict the Recovery of Intraoperative Transcranial Electrical Motor Evoked Potentials
33. Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy
34. Semi-dominant mutations in MFN2 -related neuropathy and implications for genetic counselling
35. SPINAL STENOSIS IN FAMILIAL TRANSTHYRETIN AMYLOIDOSIS
36. THE NEUROPATHY SPECTRUM IN WALDENSTRöM'S MACROGLOBULINAEMIA
37. Reply: The p.Ser107Leu inBICD2is a mutation ‘hot spot’ causing distal spinal muscular atrophy
38. MFN2 deletion of exons 7 and 8: founder mutation in the UK population
39. Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity
40. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2
41. Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia
42. Pain and small fiber function in charcot-marie-tooth disease type 1A
43. Clinical course, costs and predictive factors for response to treatment in carpal tunnel syndrome: the PALMS study protocol
44. Asymmetric sensory ganglionopathy: A case series
45. Rapidly progressive asymmetrical weakness in Charcot–Marie–Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy
46. A novel p.Glu175X premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2
47. Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing
48. Ndrg1 in development and maintenance of the myelin sheath
49. Neuropathy in a Human Without the PMP22 Gene
50. Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation
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