328 results on '"Kornberg, Andrew J."'
Search Results
2. Pilot study of a virtual weight management program for Duchenne muscular dystrophy
3. Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
4. Clinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oceania
5. Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy
6. ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients
7. The clinical profile of NMOSD in Australia and New Zealand
8. Multiple cranial neuropathies in an adolescent with myelin‐oligodendrocyte glycoprotein antibody‐associated disease
9. Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
10. Transcriptome and Genome Analysis Uncovers aDMDStructural Variant
11. A cryptic pathogenicNDUFV1variant identified by RNA ‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes
12. Geographic Expansion of Japanese Encephalitis Virus to Australia: Neuroinflammatory Sequelae and Consideration of Immunomodulation
13. Complications of Influenza A or B Virus Infection in Individuals WithSCN1A-Positive Dravet Syndrome
14. A cryptic pathogenic NDUFV1 variant identified by RNA‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes.
15. Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report.
16. Autoimmune myasthenia gravis, immunotherapy and thymectomy in children
17. Delivering multidisciplinary neuromuscular care for children via telehealth
18. Complications of Influenza A or B Virus Infection in Individuals With -Positive Dravet Syndrome.
19. Headache in Children - When to Refer?
20. MRI Patterns Distinguish AQP4 Antibody Positive Neuromyelitis Optica Spectrum Disorder From Multiple Sclerosis
21. Duchenne muscular dystrophy
22. A diagnostic approach to recurrent myalgia and rhabdomyolysis in children
23. MANAGEMENT OF SEVERE FAECAL IMPACTION IN AN ADOLESCENT WITH DUCHENNE MUSCULAR DYSTROPHY (DMD) RECEIVING PALLIATIVE CARE
24. Ascorbic acid for Charcot–Marie–Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial
25. Effect of a multicomponent nutritional supplement on functional outcomes for Duchenne muscular dystrophy: A randomized controlled trial
26. Complications of Influenza A or B Virus Infection in Individuals With SCN1A-Positive Dravet Syndrome
27. Supplementary_table_2 - Neuromyelitis Optica Spectrum Disorder and Anti-Aquaporin 4 Channel Immunoglobulin in an Australian Pediatric Demyelination Cohort
28. Relapse Patterns in NMOSD: Evidence for Earlier Occurrence of Optic Neuritis and Possible Seasonal Variation
29. The severe epilepsy syndromes of infancy: A population‐based study
30. Clinical features and disease course of patients with juvenile dermatomyositis
31. High resolution chromosomal microarray in undiagnosed neurological disorders
32. Symptomatic generalized epilepsy after HHV6 posttransplant acute limbic encephalitis in children
33. Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy
34. Relapse Patterns in NMOSD: Evidence for Earlier Occurrence of Optic Neuritis and Possible Seasonal Variation
35. Neuromyelitis Optica Spectrum Disorder and Anti-Aquaporin 4 Channel Immunoglobulin in an Australian Pediatric Demyelination Cohort
36. Neurophysiologic findings in children presenting with pes cavus
37. Recessive Mutations in RYR1 Are a Common Cause of Congenital Fiber Type Disproportion
38. Tiagabine-induced generalised non convulsive status epilepticus in patients with lesional focal epilepsy
39. Juvenile onset globoid cell leukodystrophy masquerading as XL-adrenoleukodystrophy
40. ADOLESCENT SPINAL MUSCULAR ATROPHY WITH CALF HYPERTROPHY AND A DELETION IN THE SMN GENE
41. Effective Detection of Corrected Dystrophin Loci in mdx Mouse Myogenic Precursors
42. Retrospective analysis of patients attending a neurofibromatosis type 1 clinic
43. Anti-GM1 antibodies: the cause of otherwise unexplained ophthalmoplegias?
44. Antibody-Associated Polyneuropathy Syndromes: Principles and Treatment
45. Novel therapies for Duchenne muscular dystrophy
46. Anti-N-Methyl-d-Aspartate Receptor Encephalitis Presenting as Isolated Psychosis in an Adolescent Female
47. Insights into the genotype-phenotype correlation and molecular function of SLC25A46
48. Elevated Creatine Kinase in a 6-Year-Old Boy
49. ALG1-CDG:Clinical and Molecular Characterization of 39 Unreported Patients
50. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
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