235 results on '"Yi, Yong-Hong"'
Search Results
2. Reprint of: Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders
3. Epilepsy-associated genes: an update
4. Neuroprotection of lamotrigine on hypoxic-ischemic brain damage in neonatal rats : relations to administration time and doses
5. Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders
6. BCOR variants are associated with X-linked recessive partial epilepsy
7. De novo GABRA1 variants in childhood epilepsies and the molecular subregional effects
8. Relationship between Vesicoureteral Reflux and Glomerular Filtration Rate in Children
9. Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation
10. Clinical concordance evaluation of the causality of sequence variants
11. Development-related aberrations in Kv1.1 α-subunit exert disruptive effects on bioelectrical activities of neurons in a mouse model of fragile X syndrome
12. Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies
13. Genetic Dependence and Genetic Diseases
14. Variants inSBF1, CELSR2,andTENM1cause childhood epileptic encephalopathies
15. ZFHX3Associated with Partial Epilepsy/Spasms and Correlation between Outcome & Gene Expression Stage
16. HCFC1 variants in the proteolysis domain are associated with X‐linked idiopathic partial epilepsy: Exploring the underlying mechanism
17. Epilepsy-associated genes
18. ZFHX3variants cause childhood partial epilepsy and infantile spasms with favourable outcomes
19. ABCB1 G2677T/A polymorphism is associated with the risk of drug-resistant epilepsy in Asians
20. ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation
21. Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy
22. Involvement of FMRP in Primary MicroRNA Processing via Enhancing Drosha Translation
23. Epigenetic Downregulation of Scn3a Expression by Valproate: a Possible Role in Its Anticonvulsant Activity
24. PRRT2 gene mutations associated with infantile convulsions induced by sucking and the genotype-phenotype correlation
25. GAPDH-mediated posttranscriptional regulations of sodium channel Scn1a and Scn3a genes under seizure and ketogenic diet conditions
26. A MicroRNA Profile in Fmr1 Knockout Mice Reveals MicroRNA Expression Alterations with Possible Roles in Fragile X Syndrome
27. Recessive LAMA5 Variants Associated With Partial Epilepsy and Spasms in Infancy
28. SHROOM4 Variants Are Associated With X-Linked Epilepsy With Features of Generalized Seizures or Generalized Discharges
29. CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications
30. Autism in Dravet syndrome: Prevalence, features, and relationship to the clinical characteristics of epilepsy and mental retardation
31. Genetic Dependence and Genetic Diseases
32. Transcription of the Human Sodium Channel SCN1A Gene Is Repressed by a Scaffolding Protein RACK1
33. A novel variant in the 3′ UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH’s binding
34. Altered intrinsic properties and bursting activities of neurons in layer IV of somatosensory cortex from Fmr-1 knockout mice
35. Variants in BRWD3 associated with X‐linked partial epilepsy without intellectual disability.
36. GRIN2A Variants Associated With Idiopathic Generalized Epilepsies
37. The SCN1A Mutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype
38. CELSR1 variants are associated with partial epilepsy of childhood.
39. A conserved region in the 3′ untranslated region of the human LIMK1 gene is critical for proper expression of LIMK1 at the post-transcriptional level
40. Identification of the transcriptional promoters in the proximal regions of human microRNA genes
41. Promoter Analysis of Mouse Scn3a Gene and Regulation of the Promoter Activity by GC Box and CpG Methylation
42. Early continuous inhibition of group 1 mGlu signaling partially rescues dendritic spine abnormalities in the Fmr1 knockout mouse model for fragile X syndrome
43. HLA Risk Alleles in Aromatic Antiepileptic Drug-Induced Maculopapular Exanthema
44. UNC13B variants associated with partial epilepsy with favourable outcome
45. RYR2 Mutations Are Associated With Benign Epilepsy of Childhood With Centrotemporal Spikes With or Without Arrhythmia
46. Corrigendum to “FMRP-absence-induced up-regulation of hypothalamic MAP1B expression decreases AgRP level linking with reduces in food intake and body weight” [Neurochem. Int. 140 (2020) 104847]
47. Expression changes of microtubule associated protein 1B in the brain of Fmr1 knockout mice
48. CELSR1variants are associated with partial epilepsy of childhood
49. CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures.
50. Reply: UNC13B and focal epilepsy.
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