All Stories

  1. Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs
  2. Second derivative of the finger photoplethysmogram and cardiovascular mortality in middle-aged and elderly Japanese women
  3. Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis
  4. Self-Organization of Polarized Cerebellar Tissue in 3D Culture of Human Pluripotent Stem Cells
  5. A Japanese patient with familial ALS and a p.K510M mutation in the gene for FUS (FUS) resulting in the totally locked-in state
  6. Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient
  7. DYT6 in Japan-genetic screening and clinical characteristics of the patients
  8. Optineurin suppression causes neuronal cell death via NF‐κB pathway
  9. An autopsy case of sporadic amyotrophic lateral sclerosis associated with the I113T SOD1mutation
  10. Oromandibular dystonia associated with SCA36
  11. Optineurin and amyotrophic lateral sclerosis
  12. The clinical characteristics of spinocerebellar ataxia 36: A study of 2121 Japanese ataxia patients
  13. Severe brain atrophy after long-term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the optineurin gene: a case series
  14. Optineurin with amyotrophic lateral sclerosis-related mutations abrogates inhibition of interferon regulatory factor-3 activation
  15. Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population
  16. Homozygosity Mapping on Homozygosity Haplotype Analysis to Detect Recessive Disease-Causing Genes from a Small Number of Unrelated, Outbred Patients
  17. The UCHL1 S18Y polymorphism and Parkinson’s disease in a Japanese population
  18. Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation
  19. Analysis on the Susceptibility Genes in Two Chinese Pedigrees with Familial Parkinson's Disease
  20. Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis
  21. LRRK2mutations and risk variants in Japanese patients with Parkinson's disease
  22. Aortic Pulse Wave Velocity Predicts Cardiovascular Mortality in Middle-Aged and Elderly Japanese Men
  23. The CNTN4 c.4256C>T mutation is rare in Japanese with inherited spinocerebellar ataxia
  24. Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?
  25. Voltage-gated potassium channel antibodies associated limbic encephalitis in a patient with invasive thymoma
  26. NO ASSOCIATION OF COMPLEMENT FACTOR H GENE POLYMORPHISM AND AGE-RELATED MACULAR DEGENERATION IN THE JAPANESE POPULATION
  27. High frequency of open-angle glaucoma in Japanese patients with Alzheimer's disease
  28. Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4
  29. Influence of a tumor necrosis factor gene polymorphism in Japanese patients with multiple system atrophy
  30. Activation of human SII cortex during exploratory finger movement and hand clenching tasks
  31. Glutathione-S-transferase-1 and interleukin-1β gene polymorphisms in Japanese patients with Parkinson's disease
  32. Brain-derived neurotrophic factor gene polymorphisms in Japanese patients with sporadic Alzheimer's disease, Parkinson's disease, and multiple system atrophy
  33. Influence of polymorphisms in the genes for cytokines and glutathione S-transferase omega on sporadic Alzheimer’s disease
  34. Disinhibition of the somatosensory cortex in cervical dystonia—decreased amplitudes of high-frequency oscillations
  35. Quantitative Assessment of Cerebral Blood Flow in Genetically Confirmed Spinocerebellar Ataxia Type 6
  36. A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in Western Japan
  37. Possible Reduced Penetrance of Expansion of 44 to 47 CAG/CAA Repeats in the TATA-Binding Protein Gene in Spinocerebellar Ataxia Type 17
  38. Influence of monocyte chemoattractant protein 1 gene polymorphism on age at onset of sporadic Parkinson's disease
  39. Contribution of the interleukin-1? gene polymorphism in multiple system atrophy
  40. Dinucleotide repeat polymorphisms in the Neprilysin gene are not associated with sporadic Alzheimer's disease
  41. Dopamine Transporter and Parkinson’s Disease
  42. Influence of interleukin-1β gene polymorphism on age-at-onset of spinocerebellar ataxia 6 (SCA6) in Japanese patients
  43. Nicotinic acetylcholine receptors and neurodegenerative disease
  44. Genetic studies in Parkinson's disease with an α-synuclein/NACP gene polymorphism in Japan
  45. Risk factors for dementia
  46. Tumor necrosis factor, tumor necrosis factor receptors type 1 and 2, lymphotoxin-α, and HLA-DRB1 gene polymorphisms in human T-Cell lymphotropic virus type I associated myelopathy
  47. Electrophysiological studies in spinocerebellar ataxia type 6
  48. A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson's disease
  49. Effects of nerve growth factor and nicotine on the expression of nicotinic acetylcholine receptor subunits in PC12 cells
  50. Structure and regulation of the human NeuroD (BETA2/BHF1) gene
  51. Variation in the number of CAG repeats in the Machado–Joseph disease gene (MJD1) in the Japanese population
  52. Identification and analysis of the promoter region of the human NeuroD-related factor (NDRF)
  53. Apolipoprotein E promoter polymorphism and sporadic Alzheimer's disease in a Japanese population
  54. HLA-DRB1 and tumor necrosis factor gene polymorphisms in Japanese patients with multiple sclerosis
  55. Characteristic Magnetic Resonance Imaging Findings in Spinocerebellar Ataxia 6
  56. No association between apolipoprotein E alleles and olivopontocerebellar atrophy
  57. Effect of amino acid ergot alkaloids on glutamate transport via human glutamate transporter hGluT-1
  58. Neurological diseases and dopamine transporter (DAT) and glutamate transporter (GT)
  59. Structure and organization of the gene encoding human dopamine transporter
  60. Cytokines and myelin antibodies in Crow‐Fukase syndrome
  61. Cytokines and myelin antibodies in Crow-Fukase syndrome
  62. Serum deprivation alters the expression and the splicing at exons 7, 8 and 15 of the β-amyloid precursor protein in the C6 glioma cell line
  63. Cloning and Expression of a Rat Brain Basic Helix–Loop–Helix Factor
  64. Molecular Cloning and Characterization of a cDNA Encoding a Novel Basic Helix-Loop-Helix Protein Structurally Related to NeuroD/BHF1
  65. Localization of the gene encoding the human L-glutamate transporter (GLT-1) to 11p11.2–p13 by fluorescence in situ hybridization
  66. Expression of three glutamate transporter subtype mRNAs in human brain regions and peripheral tissues
  67. Clinical Manifestations of Autosomal Recessive Early-Onset Parkinsonism with Diurnal Fluctuation
  68. Neuroprotective mechanism of bromocriptine
  69. WS-18-4 Nicotinic ion channel and neurodegenerative diseases
  70. Unique features of the CAG repeats in Machado–Joseph disease
  71. Inhibition by folded isomers of L-2-(carboxycyclopropyl) glycine of glutamate uptake via the human glutamate transporter hGluT-1
  72. Preoperative localization of brain lesions by magnetic resonance imaging with a marking device
  73. Effect of Ciliary Neurotrophic Factor on β-Amyloid Precursor Protein mRNA Expression
  74. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
  75. HLAs and genes in japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1∗0602
  76. Structural Organization and Expression of the Gene for Bovine Myosin I Heavy Chain1