Associated Papers
TREM2 in Neurodegenerative Disorders: Mutation Spectrum, Pathophysiology, and Therapeutic Targeting.
Yang H et al.
International Journal of Molecular Sciences, 2025
TREM2 variants that cause early dementia and increase Alzheimer's disease risk affect gene splicing.
Kiianitsa K et al.
Brain : a Journal of Neurology, 2024
Clinical and neuroanatomical characterization of the semantic behavioral variant of frontotemporal dementia in a multicenter Italian cohort.
Ghirelli A et al.
Journal of Neurology, 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.
Gilani N et al.
Molecular Genetics & Genomic Medicine, 2024
Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation.
Filipello F et al.
Acta Neuropathologica, 2023
TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.
Berdyński M et al.
Journal of Alzheimer's Disease : Jad, 2022
CELF2 regulates the species-specific alternative splicing of TREM2.
Yanaizu M et al.
Scientific Reports, 2020
A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study.
Lanza G et al.
Neural Plasticity, 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
Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis.
Errichiello E et al.
Frontiers in Immunology, 2019
TREM2 variants in neurodegenerative disorders in the Polish population. Homozygosity and compound heterozygosity in FTD patients.
Peplonska B et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2018
Small nuclear RNA-mediated modulation of splicing reveals a therapeutic strategy for a TREM2 mutation and its post-transcriptional regulation.
Yanaizu M et al.
Scientific Reports, 2018
Frontotemporal Dementia and Chorea Associated with a Compound Heterozygous TREM2 Mutation.
Redaelli V et al.
Journal of Alzheimer's Disease : Jad, 2018
Targeted sequencing approach to identify genetic mutations in Nasu-Hakola disease.
Satoh JI et al.
Intractable & Rare Diseases Research, 2016
Mutation analysis of the MS4A and TREM gene clusters in a case-control Alzheimer's disease data set.
Ghani M et al.
Neurobiology of Aging, 2016
Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement.
Guerreiro RJ et al.
Jama Neurology, 2013
Nasu-Hakola disease with a splicing mutation of TREM2 in a Japanese family.
Numasawa Y et al.
European Journal of Neurology, 2011
Absence of TREM2 polymorphisms in patients with Alzheimer's disease and Frontotemporal Lobar Degeneration.
Fenoglio C et al.
Neuroscience Letters, 2007
An Italian family with Nasu-Hakola disease.
Salmaggi A et al.
Journal of Neurology, 2003
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
The TREM2-DAP12 signaling pathway in Nasu-Hakola disease: a molecular genetics perspective.
Xing J et al.
Research and Reports in Biochemistry, 0