Ichiro Nozaki
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View article: Charcot-Marie-Tooth Disease with a Novel Variant in <i>Gap Junction Protein Beta 1</i> Presenting with Visual Field Defects
Charcot-Marie-Tooth Disease with a Novel Variant in <i>Gap Junction Protein Beta 1</i> Presenting with Visual Field Defects Open
Pathogenic variants in Gap Junction Protein Beta 1 (GJB1) cause X-linked Charcot-Marie-Tooth (CMT) disease type 1 (CMTX1), which is a common hereditary motor and sensory neuropathy. A 45-year-old man presented with progressive muscle weakn…
View article: Deterioration after Liver Transplantation and Transthyretin Stabilizer Administration in a Patient with ATTRv Amyloidosis with a Leu58Arg (p.Leu78Arg) <i>TTR</i> Variant
Deterioration after Liver Transplantation and Transthyretin Stabilizer Administration in a Patient with ATTRv Amyloidosis with a Leu58Arg (p.Leu78Arg) <i>TTR</i> Variant Open
We herein report a 44-year-old Japanese man with hereditary transthyretin amyloidosis (ATTRv amyloidosis) harboring the variant Leu58Arg (p.Leu78Arg) in TTR in whom we conducted an observational study with liver transplantation (LT) and tr…
View article: Deletion of Alzheimer's disease‐associated <scp>CD33</scp> results in an inflammatory human microglia phenotype
Deletion of Alzheimer's disease‐associated <span>CD33</span> results in an inflammatory human microglia phenotype Open
Genome‐wide association studies demonstrated that polymorphisms in the CD33/sialic acid‐binding immunoglobulin‐like lectin 3 gene are associated with late‐onset Alzheimer's disease (AD). CD33 is expressed on myeloid immune cells and mediat…
View article: Differentiation of Donor-Derived Cells Into Microglia After Umbilical Cord Blood Stem Cell Transplantation
Differentiation of Donor-Derived Cells Into Microglia After Umbilical Cord Blood Stem Cell Transplantation Open
Recent studies have indicated that microglia originate from immature progenitors in the yolk sac. After birth, microglial populations are maintained under normal conditions via self-renewal without the need to recruit monocyte-derived micr…
View article: Aspiration pneumonia and bronchopneumonia in progressive supranuclear palsy treated with qing fei tang: two case reports
Aspiration pneumonia and bronchopneumonia in progressive supranuclear palsy treated with qing fei tang: two case reports Open