542 results on '"UMCN 3.1: Neuromuscular development and genetic disorders."'
Search Results
2. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
3. Compound muscle action potentials in newborn infants with spina bifida.
4. Walking and periventricular leukomalacia: locomotor characteristics and brain imaging (MRI).
5. Effect of small motor unit potentials on the motor unit number estimate.
6. Thought ripples on muscle waves: recognition of rippling muscle disease.
7. Prognostic factors after a first attack of inflammatory CNS demyelination in children.
8. Parents' personality and parenting stress in families of children with spina bifida.
9. Inter-operator agreement in decomposition of motor unit firings from high-density surface EMG.
10. Muscle ultrasound in neuromuscular disorders.
11. Clinical and molecular overlap between myopathies and inherited connective tissue diseases.
12. Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.
13. Clinical neurophysiology of fatigue.
14. Differences in AERP responses and atypical hemispheric specialization in 17-month-old children at risk of dyslexia.
15. Open-label trial of anti-TNF-alpha in dermato- and polymyositis treated concomitantly with methotrexate.
16. Rituximab and intravenous immunoglobulins for relapsing postinfectious opsoclonus-myoclonus syndrome.
17. Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.
18. The Lambert-Eaton myasthenic syndrome 1988-2008: a clinical picture in 97 patients.
19. PMTS and stress response sequences in parents of children with spina bifida.
20. Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay.
21. PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.
22. A natural history study of late onset spinal muscular atrophy types 3b and 4.
23. Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.
24. One-Carbon Metabolism and Neural Tube Defects. Case Open or Closed.
25. Development of a tool to guide referral of patients with neuromuscular disorders to allied health services. Part two.
26. Muscle ultrasound: a grown-up technique for children with neuromuscular disorders.
27. Schrijfkramp: herstel van striatale dopaminerge activiteit na succesvolle behandeling met EMG-biofeedback.
28. Is head balance a major determinant for swallowing problems in patients with spinal muscular atrophy type 2?.
29. Characteristics of fast voluntary and electrically evoked isometric knee extensions during 56 days of bed rest with and without exercise countermeasure.
30. Re: Cervical myelopathy caused by retrograde intraneural dissection of anesthetic solution.
31. Technical and biochemical factors affecting cerebrospinal fluid 5-MTHF, biopterin and neopterin concentrations.
32. [Mitochondrial diseases; thinking beyond organ specialism necessary].
33. Two Greek siblings with sepiapterin reductase deficiency.
34. Removal of heparan sulfate from the glomerular basement membrane blocks protein passage.
35. NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism.
36. Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.
37. Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.
38. Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant.
39. Mongolian spots in Sjogren-Larsson syndrome.
40. Subclinical changes in the juvenile crystalline macular dystrophy in Sjogren-Larsson syndrome detected by optical coherence tomography.
41. CSF hypocretin-1 levels are normal in patients with amyotrophic lateral sclerosis.
42. Intrathecal baclofen therapy in children with intractable spastic cerebral palsy: a cost-effectiveness analysis.
43. [Sudden blindness: consider Leber's hereditary optic neuropathy].
44. Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency.
45. Motor unit number estimation using high-density surface electromyography.
46. [G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?.
47. In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.
48. Mutations in the ALDH7A1 gene cause pyridoxine-dependent seizures.
49. Gastrointestinal involvement is frequent in Myotonic Dystrophy type 2.
50. Weight loss in neurodegenerative disorders.
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