1,517 results on '"Toda, Tatsushi"'
Search Results
2. A case of argyrophilic grain disease with an initial clinical diagnosis of Parkinson’s disease
3. Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese population
4. Conventional magnetic resonance imaging key features for distinguishing pathologically confirmed corticobasal degeneration from its mimics: a retrospective analysis of the J-VAC study
5. Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis
6. RFC1-related disorder presenting recurrent syncope
7. Machine learning reveals heterogeneous associations between environmental factors and cardiometabolic diseases across polygenic risk scores
8. 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-
9. Clinical and Genetic Features of Multiplex Families with Multiple System Atrophy and Parkinson’s Disease
10. Prevalence and risk surveillance of anti-mitochondrial antibody-positive myositis: Outcomes of a nationwide survey
11. Long-term survival from progressive multifocal leukoencephalopathy in living-donor liver transplant recipient with preformed donor-specific antibody
12. Correction to: RFC1‑related disorder presenting recurrent syncope
13. LONRF2 is a protein quality control ubiquitin ligase whose deficiency causes late-onset neurological deficits
14. Restoration of the defect in radial glial fiber migration and cortical plate organization in a brain organoid model of Fukuyama muscular dystrophy
15. 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
16. High-dose ubiquinol supplementation in multiple-system atrophy: a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial
17. Proteomic profile of nuclei containing p62-positive inclusions in a patient with neuronal intranuclear inclusion disease
18. Frequency of FMR1 Premutation Alleles in Patients with Undiagnosed Cerebellar Ataxia and Multiple System Atrophy in the Japanese Population
19. Preoperative factors associated with shunt responsiveness in patients with idiopathic normal-pressure hydrocephalus
20. Efficacy of canakinumab on AA amyloidosis in late-onset NLRP3-associated autoinflammatory disease with an I574F somatic mosaic mutation
21. Assessment of the upper limb muscles in patients with Fukuyama muscular dystrophy: Noninvasive assessment using visual ultrasound muscle analysis and shear wave elastography
22. Laminin α5_CD239_Spectrin is a candidate association that compensates the linkage between the basement membrane and cytoskeleton in skeletal muscle fibers
23. Oral applause sign in progressive supranuclear palsy.
24. Outcomes of gastrointestinal cancer surgeries in Parkinson's disease patients: A nationwide study
25. Neurophysiological differentiation of upper motor neuron damage in neurodegenerative disorders
26. Alanine transaminase is predominantly increased in the active phase of anti-HMGCR myopathy
27. Stress cardiomyopathy (Takotsubo syndrome) in patients who received adrenergic agonist drugs: A pharmacovigilance study using the Japanese Adverse Drug Event Report (JADER) database
28. Randomized phase 2 study of perampanel for sporadic amyotrophic lateral sclerosis
29. COQ2 V393A confers high risk susceptibility for multiple system atrophy in East Asian population
30. Valosin-containing protein Asp395Gly mutation in a patient with frontotemporal dementia: a case report
31. TDP-43 regulates cholesterol biosynthesis by inhibiting sterol regulatory element-binding protein 2
32. Discrepancy between distribution of alpha-synuclein oligomers and Lewy-related pathology in Parkinson’s disease
33. CDP-ribitol prodrug treatment ameliorates ISPD-deficient muscular dystrophy mouse model
34. Cost-effectiveness of endovascular therapy for acute stroke with a large ischemic region in Japan: impact of the Alberta Stroke Program Early CT Score on cost-effectiveness
35. A Case of Irreversible Corneal Edema Associated with Dentatorubropallidoluysian Atrophy Following Corneal Endothelial Transplantation
36. Adult T-cell leukemia-lymphoma with neurolymphomatosis successfully controlled by valemetostat: a case report and review of literature.
37. A novel TBK1 loss-of-function variant associated with ALS and parkinsonism phenotypes.
38. Clinicopathological study of dementia with grains presenting with parkinsonism compared with a typical case.
39. Extremely Longitudinally Extensive Transverse Myelitis in a Patient With Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease
40. Genetics of neurological and psychiatric disorders
41. A subgroup of multiple system atrophy with rapid decline in vital capacity
42. Galectin 3–binding protein suppresses amyloid-β production by modulating β-cleavage of amyloid precursor protein
43. Rituximab improves not only back stiffness but also “stiff eyes” in stiff person syndrome: Implications for immune-mediated treatment
44. Transcription Factor c-Maf Promotes Immunoregulation of Programmed Cell Death 1–Expressed CD8+ T Cells in Multiple Sclerosis
45. Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population
46. Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis
47. Bardet–Biedl syndrome and related disorders in Japan
48. Genome-wide association study identifies zonisamide responsive gene in Parkinson’s disease patients
49. Fukuyama Congenital Muscular Dystrophy and Related Diseases
50. Validation of the Guy's Neurological Disability Scale as a screening tool for cognitive impairment in multiple sclerosis
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