409 results on '"Mizusawa, Hidehiro"'
Search Results
2. A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity
3. Prion diseases, always a threat?
4. Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia
5. Cerebellar Learning in the Prism Adaptation Task
6. Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants
7. High-dose ubiquinol supplementation in multiple-system atrophy: a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial
8. Preventive or promotive effects of PRNP polymorphic heterozygosity on the onset of prion disease
9. Correction: A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity
10. Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures
11. Prism Adaptation Test (PAT): A Practical and Quantitative Method to Evaluate Cerebellar Function
12. AJM300 (carotegrast methyl), an oral antagonist of α4-integrin, as induction therapy for patients with moderately active ulcerative colitis: a multicentre, randomised, double-blind, placebo-controlled, phase 3 study
13. Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.
14. Randomized phase 2 study of perampanel for sporadic amyotrophic lateral sclerosis
15. Soluble APP-α and APP-β in cerebrospinal fluid as potential biomarkers for differential diagnosis of mild cognitive impairment
16. The Japan MSA registry: A multicenter cohort study of multiple system atrophy.
17. Diffusion-weighted magnetic resonance imaging in dura mater graft-associated Creutzfeldt-Jakob disease
18. The neurology of COVID-19 revisited: A proposal from the Environmental Neurology Specialty Group of the World Federation of Neurology to implement international neurological registries
19. Characterization of Sporadic Creutzfeldt-Jakob Disease and History of Neurosurgery to Identify Potential Iatrogenic Cases
20. Accelerating access to human genomics for public health: perspectives from the Western Pacific region
21. Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42
22. Parkinson's disease: The dirty truth about the air - Authors' reply
23. Current evidence for the association between air pollution and Parkinson's disease
24. Genome-wide association analysis identifies PLA2G4C as a susceptibility locus for Multiple System Atrophy
25. Writer's Cramps as an Initial Symptom of Spinocerebellar Ataxia Type 14: A Case Report
26. Subcellular localization and ER-mediated cytotoxic function of α1A and α1ACT in spinocerebellar ataxia type 6
27. Longitudinal analysis of risk factors for dementia based on Mild Cognitive Impairment Screen results and questionnaire responses from healthy Japanese individuals registered in an online database
28. Tandem internal models execute motor learning in the cerebellum
29. Update : Dura Mater Graft–Associated Creutzfeldt-Jakob Disease — Japan, 1975–2017
30. Gait rhythm analysis as a new continuous scale for cerebellar ataxia: Power law and lognormal components represent the ataxic gait quantity
31. A diagnostic decision tree for adult cerebellar ataxia based on pontine magnetic resonance imaging
32. Idiopathic cerebellar ataxia (IDCA): Diagnostic criteria and clinical analyses of 63 Japanese patients
33. First evidence of tick-borne encephalitis (TBE) outside of Hokkaido Island in Japan
34. The professional practice and training of neurology in the Asian and Oceanian Region: A cross-sectional survey by the Asian and Oceanian Association of Neurology (AOAN)
35. Sequence configuration of spinocerebellar ataxia type 8 repeat expansions in a Japanese cohort of 797 ataxia subjects
36. Depressive disorder may be associated with raphe nuclei lesions in patients with brainstem infarction
37. Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31
38. Gene dosage effect in spinocerebellar ataxia type 6 homozygotes: A clinical and neuropathological study
39. Structural connectivity in spatial attention network: reconstruction from left hemispatial neglect
40. Author Response:: FUS regulates RAN translation through modulating the G-quadruplex structure of GGGGCC repeat RNA in C9orf72-linked ALS/FTD
41. FUS regulates RAN translation through modulating the G-quadruplex structure of GGGGCC repeat RNA in C9orf72-linked ALS/FTD
42. Age at onset in genetic prion disease and the design of preventive clinical trials
43. Genome-wide association study identifies a new susceptibility locus inPLA2G4Cfor Multiple System Atrophy
44. Temporal Relationship between Impairment of Cerebellar Motor Learning and Deterioration of Ataxia in Patients with Cerebellar Degeneration
45. Nationwide Laboratory Surveillance of Progressive Multifocal Leukoencephalopathy in Japan: Fiscal Years 2011–2020
46. Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormality
47. Functional Connectivity and Small-World Networks in Prion Disease
48. Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans
49. A Score for Predicting Paroxysmal Atrial Fibrillation in Acute Stroke Patients: iPAB Score
50. Spinocerebellar ataxia 2 develop lower motor neuron involvement as an initial symptom: a case report
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