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Last Updated: 10/31/2025

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Found 104 publications

Generation of a human induced pluripotent stem cell line (BIHi292-A) from PBMCs of a female patient diagnosed with Nasu-Hakola disease (NHD)/polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) carrying a novel heterozygous mutation in the TREM2 gene.

Generation of a human induced pluripotent stem cell line (BIHi292-A) from PBMCs of a female patient diagnosed with Nasu-Hakola disease (NHD)/polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) carrying a novel heterozygous mutation in the TREM2 gene.

Journal: Stem cell research
Published: November 16, 2024

Behavioral variant of frontotemporal dementia in carriers of biallelic TREM2 variants: cases study.

Behavioral variant of frontotemporal dementia in carriers of biallelic TREM2 variants: cases study.

Journal: Folia neuropathologica
Published: August 21, 2024

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy: report of two cases.

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy: report of two cases.

Journal: Dementia & neuropsychologia
Published: August 03, 2024

Monoallelic TYROBP deletion is a novel risk factor for Alzheimer's disease.

Monoallelic TYROBP deletion is a novel risk factor for Alzheimer's disease.

Journal: Molecular neurodegeneration
Published: May 16, 2024

Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu-Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature.

Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu-Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature.

Journal: Molecular genetics & genomic medicine
Published: November 26, 2023

Computational saturation mutagenesis to explore the effect of pathogenic mutations on extra-cellular domains of TREM2 associated with Alzheimer's and Nasu-Hakola disease.

Computational saturation mutagenesis to explore the effect of pathogenic mutations on extra-cellular domains of TREM2 associated with Alzheimer's and Nasu-Hakola disease.

Journal: Journal of molecular modeling
Published: July 25, 2023

A polarizing answer - microglia in Nasu-Hakola disease.

A polarizing answer - microglia in Nasu-Hakola disease.

Journal: Nature immunology
Published: February 24, 2023

TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.

TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.

Journal: Journal of Alzheimer's disease : JAD
Published: August 29, 2022

Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation.

Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation.

Journal: Acta neuropathologica
Published: July 20, 2022

Nasu-Hakola Disease With Stroke-like Attack: A Case Report.

Nasu-Hakola Disease With Stroke-like Attack: A Case Report.

Journal: Alzheimer disease and associated disorders
Published: July 13, 2022

The Primary Microglial Leukodystrophies: A Review.

The Primary Microglial Leukodystrophies: A Review.

Journal: International journal of molecular sciences
Published: May 08, 2022

Primary Microglia Dysfunction or Microgliopathy: A Cause of Dementias and Other Neurological or Psychiatric Disorders.

Primary Microglia Dysfunction or Microgliopathy: A Cause of Dementias and Other Neurological or Psychiatric Disorders.

Journal: Neuroscience
Published: February 09, 2022
Showing 1-12 of 104

Last Updated: 10/31/2025