574 results on '"Kawakami, Hideshi"'
Search Results
2. CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis
3. Comparison of two families with and without ataxia harboring novel variants in PRKCG
4. Channelopathies and Cerebellar Disease
5. Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient
6. Clinical and Pathological Features of FTDP‐17 with MAPT p.K298_H299insQ Mutation
7. Loss-of-function OGFRL1 variants identified in autosomal recessive cherubism families
8. Novel monoallelic variant in ERLIN2 causes spastic paraplegia converted to amyotrophic lateral sclerosis
9. Analysis of genetic risk factors in Japanese patients with Parkinson’s disease
10. Channelopathies and Cerebellar Disease
11. Correction to: FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report
12. FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report
13. Correction: Comparison of two families with and without ataxia harboring novel variants in PRKCG
14. The first Japanese case of primary familial brain calcification caused by an MYORG variant
15. Aggressive periodontitis and NOD2 variants
16. Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia
17. Biallelic mutation of HSD17B4 induces middle age–onset spinocerebellar ataxia
18. Zonisamide can ameliorate the voltage-dependence alteration of the T-type calcium channel CaV3.1 caused by a mutation responsible for spinocerebellar ataxia
19. Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report
20. Channelopathies and Cerebellar Disease
21. Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
22. Optineurin deficiency impairs autophagy to cause interferon beta overproduction and increased survival of mice following viral infection
23. Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report
24. ‘Raisin bread sign’ feature of pontine autosomal dominant microangiopathy and leukoencephalopathy
25. Additional file 1 of Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient
26. Second derivative of the finger photoplethysmogram and cardiovascular mortality in middle-aged and elderly Japanese women
27. Multiple Proteinopathies in Familial ALS Cases With Optineurin Mutations
28. An autopsy case of sporadic, adult-onset amyotrophic lateral sclerosis with heterozygous p.N1935S SETX gene variant.
29. Optineurin deficiency impairs autophagy to cause interferon beta overproduction and increased survival of mice following viral infection.
30. TDP-43 Accumulation Within Intramuscular Nerve Bundles of Patients With Amyotrophic Lateral Sclerosis
31. Dopamine Transporter and Parkinson’s Disease
32. Risk factors for dementia
33. PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation
34. Clinical Manifestations of Autosomal Recessive Early-Onset Parkinsonism with Diurnal Fluctuation
35. Effect of Ciliary Neurotrophic Factor on β-Amyloid Precursor Protein mRNA Expression
36. Knockdown of optineurin controls C2C12 myoblast differentiation via regulating myogenin and MyoD expressions
37. Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis
38. Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy
39. Additional file of Zonisamide can ameliorate the voltage-dependence alteration of the T-type calcium channel CaV3.1 caused by a mutation responsible for spinocerebellar ataxia
40. Prediction Model of Amyotrophic Lateral Sclerosis by Deep Learning with Patient Induced Pluripotent Stem Cells
41. Investigation on circular asymmetry of geographical distribution in cancer mortality of Hiroshima atomic bomb survivors based on risk maps: analysis of spatial survival data
42. Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation
43. Mutations of optineurin in amyotrophic lateral sclerosis
44. A Japanese patient with familial ALS and a p.K510M mutation in the gene for FUS (FUS) resulting in the totally locked-in state
45. Genome-wide association study in musicianʼs dystonia: A risk variant at the arylsulfatase G locus?
46. Dyt6 in Japan—Genetic Screening and Clinical Characteristics of the Patients
47. Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation
48. An autopsy case of sporadic amyotrophic lateral sclerosis associated with the I113T SOD1 mutation
49. Prospects and status of the dosimetry system for atomic bomb survivor cohort study conducted at Research Institute for Radiation Biology and Medicine of Hiroshima University
50. Collaborative analysis of alpha-Synuclein gene promoter variability and Parkinson disease
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.