208 results on '"Hara, Norikazu"'
Search Results
2. Correction: Polygenic effects on the risk of Alzheimer’s disease in the Japanese population
3. Polygenic effects on the risk of Alzheimer’s disease in the Japanese population
4. Missense mutation of NRAS is associated with malignant progression in neurocutaneous melanosis
5. Long-standing preservation of levodopa response in progressive supranuclear palsy
6. Clinicopathologic features of two unrelated autopsied patients with Charcot-Marie-Tooth disease carrying MFN2 gene mutation
7. Genetics of Alzheimer’s disease: an East Asian perspective
8. A functional variant of SHARPIN confers increased risk of late-onset Alzheimer’s disease
9. Dissection of the polygenic architecture of neuronal Aβ production using a large sample of individual iPSC lines derived from Alzheimer’s disease patients
10. Selective agonism of GPR34 stimulates microglial uptake and clearance of amyloid β fibrils
11. Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy
12. Distinct Patterns and Associated Single-Nucleotide Variations of Cognitive Domains in Extreme Old Age and Alzheimer's Disease
13. Genetic characterization of NOTCH2NLC repeat expansion in patients with neuronal intranuclear inclusion disease (NIID)
14. 10141-GMC-13 MULTIREGIONAL GENOMIC ANALYSIS: A NOVEL APPROACH FOR DETECTING PATHOGENIC DRIVER MUTATION ASSOCIATED WITH MALIGNANT PROGRESSION IN NEUROCUTANEOUS MELANOSIS
15. Omics analysis of Alzheimer’s disease stratified by the microglial polygenic effect
16. Age-related demethylation of the TDP-43 autoregulatory region in the human motor cortex
17. Ethnic and trans-ethnic genome-wide association studies identify new loci influencing Japanese Alzheimer’s disease risk
18. Transferability of a European-derived Alzheimer’s Disease Genetic Risk Score across Multi-Ancestry Populations
19. Polygenic effects on the risk of Alzheimer′s disease in the Japanese population
20. Heterogenous Genetic, Clinical, and Imaging Features in Patients with Neuronal Intranuclear Inclusion Disease Carrying NOTCH2NLC Repeat Expansion
21. Topoisomerase IIβ targets DNA crossovers formed between distant homologous sites to induce chromatin opening
22. Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings
23. Oculopharyngodistal myopathy with coexisting histology of systemic neuronal intranuclear inclusion disease: Clinicopathologic features of an autopsied patient harboring CGG repeat expansions in LRP12
24. Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
25. Novel Partial Deletions, Frameshift and Missense Mutations ofCSF1Rin Patents withCSF1R ‐RelatedLeukoencephalopathy
26. Loss of kallikrein‐related peptidase 7 exacerbates amyloid pathology in Alzheimerʼs disease model mice
27. Enhancer variants associated with Alzheimer’s disease affect gene expression via chromatin looping
28. A rare functional variant of SHARPIN attenuates the inflammatory response and associates with increased risk of late-onset Alzheimer’s disease
29. SYNE1-ataxia
30. Novel partial deletions, frameshift and missense mutations of CSF1R in patents with CSF1R‐related leukoencephalopathy.
31. Different AT(N) profiles and clinical progression classified by two different N markers using total tau and neurofilament light chain in cerebrospinal fluid
32. Four‐repeat tauopathies and late‐onset psychiatric disorders: Etiological relevance or incidental findings?
33. Genetics of Alzheimer’s disease: an East Asian perspective
34. SYNE1-ataxia: clinicopathologic features of an autopsied patient with novel compound heterozygous mutations.
35. Accelerated DNA Methylation Age of the TARDBP 3’UTR in the Motor Cortex is Associated with Age of Sporadic ALS Onset. (P1-1.Virtual)
36. Focal striatal amyloid deposition in Alzheimer's disease caused byAPPp. V717I mutation: Longitudinal positron emission tomography study
37. Brain TDP‐43 pathology in corticobasal degeneration: Topographical correlation with neuronal loss
38. Four‐repeat tauopathies and late‐onset psychiatric disorders: Etiological relevance or incidental findings?
39. A functional variant of SHARPIN confers increased risk of late-onset Alzheimer’s disease
40. A Novel Heterozygous Missense Variant in the CIAO1 Gene in a Family with Alzheimer’s Disease: The Val67Ile Variant Promotes the Interaction of CIAO1 and Amyloid-β Protein Precursor
41. Transcriptional downregulation of FAM3C/ILEI in the Alzheimer’s brain
42. Topoisomerase II beta targets DNA crossovers formed between distant homologous sites to induce chromatin opening
43. Age-related demethylation of the TDP-43 autoregulatory region in the human motor cortex
44. Polygenic analysis of late‐onset Alzheimer’s disease in a Japanese population
45. Frequent Germline and Somatic Single Nucleotide Variants in the Promoter Region of the Ribosomal RNA Gene in Japanese Lung Adenocarcinoma Patients
46. Identification of calcium and integrin‐binding protein 1 as a novel regulator of production of amyloid β peptide using CRISPR/Cas9‐based screening system
47. Disruption of a RAC1-centred network is associated with Alzheimer’s disease pathology and causes age-dependent neurodegeneration
48. Transcriptional downregulation of FAM3C/ILEI in the Alzheimer's brain.
49. A functional variant of SHARPINconfers increased risk of late-onset Alzheimer’s disease
50. Glial pathology in a novel spontaneous mutant mouse of the Eif2b5 gene: a vanishing white matter disease model
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