Associated Papers
Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation.
Filipello F et al.
Acta Neuropathologica, 2023
Analysis of dementia-related gene variants in APOE ε4 noncarrying Korean patients with early-onset Alzheimer's disease.
Park JE et al.
Neurobiology of Aging, 2020
Triggering Receptor Expressed on Myeloid Cell 2 R47H Exacerbates Immune Response in Alzheimer's Disease Brain.
Korvatska O et al.
Frontiers in Immunology, 2020
Microglia express GPNMB in the brains of Alzheimer's disease and Nasu-Hakola disease.
Satoh JI et al.
Intractable & Rare Diseases Research, 2019
Alzheimer's disease pathology in Nasu-Hakola disease brains.
Satoh JI et al.
Intractable & Rare Diseases Research, 2018
Expression of GPR17, a regulator of oligodendrocyte differentiation and maturation, in Nasu-Hakola disease brains.
Satoh JI et al.
Intractable & Rare Diseases Research, 2017
Targeted sequencing approach to identify genetic mutations in Nasu-Hakola disease.
Satoh JI et al.
Intractable & Rare Diseases Research, 2016
Expression of gp91phox and p22phox, catalytic subunits of NADPH oxidase, on microglia in Nasu-Hakola disease brains.
Satoh JI et al.
Intractable & Rare Diseases Research, 2016
A Case of Nasu-Hakola Disease without Fractures or Consanguinity Diagnosed Using Exome Sequencing and Treated with Sodium Valproate.
Yamazaki K et al.
Clinical Psychopharmacology and Neuroscience : the Official Scientific Journal of the Korean College of Neuropsychopharmacology, 2015
Variable expression of microglial DAP12 and TREM2 genes in Nasu-Hakola disease.
Sasaki A et al.
Neurogenetics, 2015
Introducing directly induced microglia-like (iMG) cells from fresh human monocytes: a novel translational research tool for psychiatric disorders.
Ohgidani M et al.
Frontiers in Cellular Neuroscience, 2015
TREM2 mRNA Expression in Leukocytes Is Increased in Alzheimer's Disease and Schizophrenia.
Mori Y et al.
Plos One, 2015
LC3, an autophagosome marker, is expressed on oligodendrocytes in Nasu-Hakola disease brains.
Satoh J et al.
Orphanet Journal of Rare Diseases, 2014
Phosphorylated Syk expression is enhanced in Nasu-Hakola disease brains.
Satoh J et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2012
Immunohistochemical characterization of microglia in Nasu-Hakola disease brains.
Satoh J et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2011
A Japanese case with Nasu-Hakola disease of DAP12 gene mutation exhibiting precuneus hypoperfusion.
Nakamagoe K et al.
Internal Medicine (tokyo, Japan), 2011
A novel compound heterozygous mutation in the DAP12 gene in a patient with Nasu-Hakola disease.
Kuroda R et al.
Journal of the Neurological Sciences, 2007
Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy--PLOSL): a dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects.
Bianchin MM et al.
Cellular and Molecular Neurobiology, 2004
Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.
Paloneva J et al.
American Journal of Human Genetics, 2002
Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.
Paloneva J et al.
Nature Genetics, 2000