324 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. Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy
5. Clinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oceania
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. Delivering multidisciplinary neuromuscular care for children via telehealth
17. Complications of Influenza A or B Virus Infection in Individuals With -Positive Dravet Syndrome.
18. Autoimmune myasthenia gravis, immunotherapy and thymectomy in children
19. Headache in Children - When to Refer?
20. MRI Patterns Distinguish AQP4 Antibody Positive Neuromyelitis Optica Spectrum Disorder From Multiple Sclerosis
21. Effect of a multicomponent nutritional supplement on functional outcomes for Duchenne muscular dystrophy: A randomized controlled trial
22. Complications of Influenza A or B Virus Infection in Individuals With SCN1A-Positive Dravet Syndrome
23. Duchenne muscular dystrophy
24. A diagnostic approach to recurrent myalgia and rhabdomyolysis in children
25. MANAGEMENT OF SEVERE FAECAL IMPACTION IN AN ADOLESCENT WITH DUCHENNE MUSCULAR DYSTROPHY (DMD) RECEIVING PALLIATIVE CARE
26. Ascorbic acid for Charcot–Marie–Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial
27. The severe epilepsy syndromes of infancy: A population‐based study
28. Clinical features and disease course of patients with juvenile dermatomyositis
29. Supplementary_table_2 - Neuromyelitis Optica Spectrum Disorder and Anti-Aquaporin 4 Channel Immunoglobulin in an Australian Pediatric Demyelination Cohort
30. High resolution chromosomal microarray in undiagnosed neurological disorders
31. Symptomatic generalized epilepsy after HHV6 posttransplant acute limbic encephalitis in children
32. Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy
33. Relapse Patterns in NMOSD: Evidence for Earlier Occurrence of Optic Neuritis and Possible Seasonal Variation
34. Neuromyelitis Optica Spectrum Disorder and Anti-Aquaporin 4 Channel Immunoglobulin in an Australian Pediatric Demyelination Cohort
35. Neurophysiologic findings in children presenting with pes cavus
36. Recessive Mutations in RYR1 Are a Common Cause of Congenital Fiber Type Disproportion
37. Tiagabine-induced generalised non convulsive status epilepticus in patients with lesional focal epilepsy
38. Juvenile onset globoid cell leukodystrophy masquerading as XL-adrenoleukodystrophy
39. ADOLESCENT SPINAL MUSCULAR ATROPHY WITH CALF HYPERTROPHY AND A DELETION IN THE SMN GENE
40. Effective Detection of Corrected Dystrophin Loci in mdx Mouse Myogenic Precursors
41. Retrospective analysis of patients attending a neurofibromatosis type 1 clinic
42. Anti-GM1 antibodies: the cause of otherwise unexplained ophthalmoplegias?
43. Antibody-Associated Polyneuropathy Syndromes: Principles and Treatment
44. Novel therapies for Duchenne muscular dystrophy
45. Anti-N-Methyl-d-Aspartate Receptor Encephalitis Presenting as Isolated Psychosis in an Adolescent Female
46. Insights into the genotype-phenotype correlation and molecular function of SLC25A46
47. Elevated Creatine Kinase in a 6-Year-Old Boy
48. Pathogenic deep intronic MTM1variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy
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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