Associated Papers
Alterations in the brain lipidome of Alzheimer's disease donors with rare TREM2 risk variants.
Proitsi P et al.
Brain Communications, 2026
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 2025
TREM2 in Neurodegenerative Disorders: Mutation Spectrum, Pathophysiology, and Therapeutic Targeting.
Yang H et al.
International Journal of Molecular Sciences, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
TREM2 risk variants and associated endophenotypes in alzheimer's disease.
Dijkstra JIR et al.
Alzheimer's Research & Therapy, 2025
Induced pluripotent stem cell-derived macrophages as a platform for modelling human disease.
Tiwari SK et al.
Nature Reviews. Immunology, 2025
Heterozygous TREM2 (p.W44X) and PSEN1 (p.A431T) mutations in two Peruvian families with familial Alzheimer's disease: expanding the genetic landscape in underrepresented populations.
Villegas-Llerena C et al.
Frontiers in Neuroscience, 2025
Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.
Khani M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Haploinsufficiency and Alzheimer's Disease: The Possible Pathogenic and Protective Genetic Factors.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2024
A Risk Variant rs6922617 in TREM Is Discrepantly Associated With Defining Neuropathological Hallmarks in the Alzheimer's Continuum.
Qian S et al.
The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 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
Proteo-genomics of soluble TREM2 in cerebrospinal fluid provides novel insights and identifies novel modulators for Alzheimer's disease.
Wang L et al.
Molecular Neurodegeneration, 2024
Behavioral variant of frontotemporal dementia in carriers of biallelic TREM2 variants: cases study.
Barczak A et al.
Folia Neuropathologica, 2024
Computational saturation mutagenesis to explore the effect of pathogenic mutations on extra-cellular domains of TREM2 associated with Alzheimer's and Nasu-Hakola disease.
Swain PS et al.
Journal of Molecular Modeling, 2023
Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2.
Ogonowski N et al.
Journal of Medical Genetics, 2023
Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation.
Filipello F et al.
Acta Neuropathologica, 2023
Untangling the Role of TREM2 in Conjugation with Microglia in Neuronal Dysfunction: A Hypothesis on a Novel Pathway in the Pathophysiology of Alzheimer's Disease.
Basha SC et al.
Journal of Alzheimer's Disease : Jad, 2023
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
Holstege H et al.
Nature Genetics, 2022
The role of triggering receptor expressed on myeloid cells 2 in Parkinson's disease and other neurodegenerative disorders.
Schwarz H et al.
Behavioural Brain Research, 2022
Microglial TYROBP/DAP12 in Alzheimer's disease: Transduction of physiological and pathological signals across TREM2.
Haure-Mirande JV et al.
Molecular Neurodegeneration, 2022
Dynamic insights into the effects of nonsynonymous polymorphisms (nsSNPs) on loss of TREM2 function.
Dash R et al.
Scientific Reports, 2022
The Primary Microglial Leukodystrophies: A Review.
Ferrer I
International Journal of Molecular Sciences, 2022
TREM2 coding variants in Slovak Alzheimer's disease patients.
Durmanova V et al.
Journal of Integrative Neuroscience, 2022
Soluble TREM2: Innocent bystander or active player in neurological diseases?
Filipello F et al.
Neurobiology of Disease, 2022
Role of TREM2 in Alzheimer's Disease: A Long Road Ahead.
Kulkarni B et al.
Molecular Neurobiology, 2021
TREM2 variants as a possible cause of frontotemporal dementia with distinct neuroimaging features.
Samanci B et al.
European Journal of Neurology, 2021
How understudied populations have contributed to our understanding of Alzheimer's disease genetics.
Dehghani N et al.
Brain : a Journal of Neurology, 2021
Harnessing the paradoxical phenotypes of APOE ɛ2 and APOE ɛ4 to identify genetic modifiers in Alzheimer's disease.
Kim YW et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2021
Glial cells and adaptive immunity in frontotemporal dementia with tau pathology.
Hartnell IJ et al.
Brain : a Journal of Neurology, 2021
The most prevalent rare coding variants of TREM2 conferring risk of Alzheimer's disease: A systematic review and meta-analysis.
Li R et al.
Experimental and Therapeutic Medicine, 2021
Neuropathological Alzheimer's Disease Lesions in Nasu-Hakola Disease with TREM2 Mutation: Atypical Distribution of Neurofibrillary Changes.
Maderna E et al.
Journal of Alzheimer's Disease : Jad, 2021
Neurodegenerative Disease Risk in Carriers of Autosomal Recessive Disease.
Vieira SRL et al.
Frontiers in Neurology, 2021
Systematic Review: Genetic, Neuroimaging, and Fluids Biomarkers for Frontotemporal Dementia Across Latin America Countries.
Duran-Aniotz C et al.
Frontiers in Neurology, 2021
Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice.
Jadhav VS et al.
Molecular Neurodegeneration, 2020
Gene expression and functional deficits underlie TREM2-knockout microglia responses in human models of Alzheimer's disease.
McQuade A et al.
Nature Communications, 2020
CD33 and SIGLECL1 Immunoglobulin Superfamily Involved in Dementia.
Rendina A et al.
Journal of Neuropathology and Experimental Neurology, 2020
Heterozygous TREM2 Mutation in Semantic Variant of Primary Progressive Aphasia.
Ji MJ et al.
Journal of Clinical Neurology (seoul, Korea), 2020
Analysis of Cerebrospinal Fluid Soluble TREM2 and Polymorphisms in Sporadic Parkinson's Disease in a Chinese Population.
Peng G et al.
Journal of Molecular Neuroscience : Mn, 2020
Plasma levels of soluble TREM2 and neurofilament light chain in TREM2 rare variant carriers.
Ashton NJ et al.
Alzheimer's Research & Therapy, 2019
The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk.
Deming Y et al.
Science Translational Medicine, 2019
Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.
Park JS et al.
Nature Communications, 2019
Endo-lysosomal dysregulations and late-onset Alzheimer's disease: impact of genetic risk factors.
Van Acker ZP et al.
Molecular Neurodegeneration, 2019
TREM2 brain transcript-specific studies in AD and TREM2 mutation carriers.
Del-Aguila JL et al.
Molecular Neurodegeneration, 2019
Genetic screen in a large series of patients with primary progressive aphasia.
Ramos EM et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2019
Inflammatory expression profile in peripheral blood mononuclear cells from patients with Nasu-Hakola Disease.
Galimberti D et al.
Cytokine, 2019
Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry.
Patel D et al.
Jama Network Open, 2019