An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene
Author:
Publisher
BMJ
Subject
Psychiatry and Mental health,Clinical Neurology,Surgery
Cited by 59 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Current understanding on TREM-2 molecular biology and physiopathological functions;International Immunopharmacology;2024-06
2. 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;Molecular Genetics & Genomic Medicine;2024-06
3. Microglial activation, tau and amyloid deposition in TREM2 p.R47H carriers and mild cognitive impairment patients: a multi-modal/multi-tracer PET/MRI imaging study with influenza vaccine immune challenge;Journal of Neuroinflammation;2023-11-21
4. Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation;Acta Neuropathologica;2023-04-28
5. Microglial TYROBP/DAP12 in Alzheimer’s disease: Transduction of physiological and pathological signals across TREM2;Molecular Neurodegeneration;2022-08-24
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