Associated Papers
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
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
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
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
Neurodegenerative Disease-Associated Variants in TREM2 Destabilize the Apical Ligand-Binding Region of the Immunoglobulin Domain.
Dean HB et al.
Frontiers in Neurology, 2019
A novel mutation in TREM2 gene causing Nasu-Hakola disease and review of the literature.
Dardiotis E et al.
Neurobiology of Aging, 2017
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
The Triggering Receptor Expressed on Myeloid Cells 2: A Molecular Link of Neuroinflammation and Neurodegenerative Diseases.
Walter J
The Journal of Biological Chemistry, 2016
Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes.
Thelen M et al.
Neurobiology of Aging, 2014
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
Absence of TREM2 polymorphisms in patients with Alzheimer's disease and Frontotemporal Lobar Degeneration.
Fenoglio C et al.
Neuroscience Letters, 2007
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