798 results on '"Ishiura, Hiroyuki"'
Search Results
2. Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis
3. Correction: Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-
4. A Japanese Family with a Novel Pathogenic Variant in KIF1A Presenting with Spastic Paraparesis, Cerebellar Ataxia, and Intellectual Disability
5. RFC1-related disorder presenting recurrent syncope
6. Clinical and Genetic Features of Multiplex Families with Multiple System Atrophy and Parkinson’s Disease
7. A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity
8. Correction to: RFC1‑related disorder presenting recurrent syncope
9. Protective effect of scallop-derived plasmalogen against vascular dysfunction, via the pSTAT3/PIM1/NFATc1 axis, in a novel mouse model of Alzheimer’s disease with cerebral hypoperfusion
10. Neuroprotective effect of, a flavonoid, sudachitin in mice stroke model
11. CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy
12. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
13. Injection of exogenous amyloid-β oligomers aggravated cognitive deficits, and activated necroptosis, in APP23 transgenic mice
14. Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder
15. Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations
16. High-dose ubiquinol supplementation in multiple-system atrophy: a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial
17. Frequency of FMR1 Premutation Alleles in Patients with Undiagnosed Cerebellar Ataxia and Multiple System Atrophy in the Japanese Population
18. Proteomic profile of nuclei containing p62-positive inclusions in a patient with neuronal intranuclear inclusion disease
19. Correction: A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity
20. Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes
21. A clinical and genetic study of SPG31 in Japan
22. An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families
23. Efficacy of canakinumab on AA amyloidosis in late-onset NLRP3-associated autoinflammatory disease with an I574F somatic mosaic mutation
24. Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments
25. A novel TBK1 loss-of-function variant associated with ALS and parkinsonism phenotypes.
26. Randomized phase 2 study of perampanel for sporadic amyotrophic lateral sclerosis
27. Valosin-containing protein Asp395Gly mutation in a patient with frontotemporal dementia: a case report
28. COQ2 V393A confers high risk susceptibility for multiple system atrophy in East Asian population
29. Chédiak–Higashi syndrome presenting as a hereditary spastic paraplegia
30. An immigrant family with Kii amyotrophic lateral sclerosis/parkinsonism–dementia complex
31. A Case of Irreversible Corneal Edema Associated with Dentatorubropallidoluysian Atrophy Following Corneal Endothelial Transplantation
32. Cerebellar Ataxia as a Common Clinical Presentation Associated with DNMT1 p.Y511H and a Review of the Literature
33. The Japan MSA registry: A multicenter cohort study of multiple system atrophy.
34. Advances in repeat expansion diseases and a new concept of repeat motif–phenotype correlation
35. Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance
36. Frontotemporal lobar degeneration
37. Efficient variant phasing utilizing a replication cycle reaction system
38. Anti-neurofascin 155 Antibody-positive Neuropathy in a Human Immunodeficiency Virus-infected Patient
39. Genome-wide association analysis identifies PLA2G4C as a susceptibility locus for Multiple System Atrophy
40. SPTLC2 variants are associated with early‐onset ALS and FTD due to aberrant sphingolipid synthesis
41. Proximal sensory neuropathy and cerebellar ataxia as presenting symptoms of NOTCH2NLC-related neuronal intranuclear inclusion disease
42. Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population
43. Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis
44. Chapter 9 - DNA sequencing and other methods of exonic and genomic analyses
45. Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review
46. SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report
47. Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42
48. Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion
49. Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis.
50. Correction to: Efficacy of canakinumab on AA amyloidosis in late-onset NLRP3-associated autoinflammatory disease with an I574F somatic mosaic mutation
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