Disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
- A polarizing answer - microglia in Nasu-Hakola disease
- A Shotgun Proteomic Platform for a Global Mapping of Lymphoblastoid Cells to Gain Insight into Nasu-Hakola Disease
- Behavioral variant of frontotemporal dementia in carriers of biallelic TREM2 variants: cases study
- Computational saturation mutagenesis to explore the effect of pathogenic mutations on extra-cellular domains of TREM2 associated with Alzheimer's and Nasu-Hakola disease
- Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation
- 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
- Human early-onset dementia caused by DAP12 deficiency reveals a unique signature of dysregulated microglia
- Mechanistic insights into the deleterious roles of Nasu-Hakola disease associated TREM2 variants
- Nasu-Hakola Disease With Stroke-like Attack: A Case Report
- Neuropathological Alzheimer's Disease Lesions in Nasu-Hakola Disease with TREM2 Mutation: Atypical Distribution of Neurofibrillary Changes
- Novel TREM2 splicing isoform that lacks the V-set immunoglobulin domain is abundant in the human brain
- Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis
- PLOSL: Population learning followed by one shot learning pulmonary image registration using tissue volume preserving and vesselness constraints
- Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy
- Primary Microglia Dysfunction or Microgliopathy: A Cause of Dementias and Other Neurological or Psychiatric Disorders
- The Primary Microglial Leukodystrophies: A Review
- TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders
- Triggering Receptor Expressed on Myeloid Cell 2 R47H Exacerbates Immune Response in Alzheimer's Disease Brain