42 results on '"Date, Hidetoshi"'
Search Results
2. Correction: A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity
3. Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures
4. Genome-wide association analysis identifies PLA2G4C as a susceptibility locus for Multiple System Atrophy
5. Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
6. Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
7. Genome-wide association study identifies a new susceptibility locus inPLA2G4Cfor Multiple System Atrophy
8. Correction: A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity
9. A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity
10. Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation
11. Expression profile analysis in cells overexpressing DRPLA cDNA to explore the roles of DRPLAp as a transcriptional coregulator
12. Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis
13. Intranuclear Degradation of Polyglutamine Aggregates by the Ubiquitin-Proteasome System
14. C9ORF72 Repeat Expansion in Amyotrophic Lateral Sclerosis in the Kii Peninsula of Japan
15. Genotype–phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia
16. Japan Consortium of Ataxias (J-CAT): A National Registry to Elucidate Landscape for Degenerative Ataxias in Japan (1966)
17. Mutations for Gaucher Disease Confer High Susceptibility to Parkinson Disease
18. Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3′-phosphate and 3′-phosphoglycolate ends
19. The FHA domain of aprataxin interacts with the C-terminal region of XRCC1
20. Aprataxin, a novel protein that protects against genotoxic stress
21. Molecular background of ALS based on whole exome sequencing analysis (P1.9-028)
22. SNP HiTLink: a high-throughput linkage analysis system employing dense SNP data
23. RNA-sequencing analysis of muscle biopsy samples from patients with inclusion body myositis and those with polymyositis (P3.449)
24. Theme 2 Genetics and genomics.
25. ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19
26. Anti-TIF1-γ antibody and cancer-associated myositis
27. The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement
28. Variants associated with Gaucher disease in multiple system atrophy
29. Pathological Changes of Necrotizing Autoimmune Myopathy Associated with Anti-Signal Recognition Particle Antibody (P07.044)
30. CpG Demethylation Enhances Alpha-Synuclein Expression and Affects the Pathogenesis of Parkinson's Disease
31. A cell-based high throughput-screen for Dentatorubral-pallidoluysian atrophy (DRPLA)
32. SNP HiTLink: a high-throughput linkage analysis system employing dense SNP data
33. Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein
34. Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation
35. A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees
36. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene
37. Ataxia with isolated vitamin E deficiency and retinitis pigmentosa
38. Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch
39. C9ORF72 Repeat Expansion in Amyotrophic Lateral Sclerosis in the Kii Peninsula of Japan.
40. A novel mutation in the GNEgene and a linkage disequilibrium in Japanese pedigrees
41. Variants associated with Gaucher disease in multiple system atrophy
42. Genome-wide association study identifies a new susceptibility locus in PLA2G4C for Multiple System Atrophy.
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