title: An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene.
authors.forename: D
authors.initials: D
authors.lastname: Soragna
authors.forename: L
authors.initials: L
authors.lastname: Papi
authors.forename: M T
authors.initials: MT
authors.lastname: Ratti
authors.forename: R
authors.initials: R
authors.lastname: Sestini
authors.forename: R
authors.initials: R
authors.lastname: Tupler
authors.forename: L
authors.initials: L
authors.lastname: Montalbetti
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D001845:Bone Cysts / Q000150:complications* / Q000235:genetics*; D004252:DNA Mutational Analysis; D003704:Dementia / Q000150:complications* / Q000235:genetics*; D005260:Female; D006801:Humans; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D011971:Receptors, Immunologic / Q000235:genetics*; D013344:Subacute Sclerosing Panencephalitis / Q000150:complications* / Q000235:genetics*; D009626:Terminology as Topic; D000073871:Triggering Receptor Expressed on Myeloid Cells-1
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D011506:Proteins; D011971:Receptors, Immunologic; C408842:TREM1 protein, human; C498715:TREM2 protein, human; C110546:TYROBP protein, human; D000073871:Triggering Receptor Expressed on Myeloid Cells-1