Citations for
1PLOSL1, TYROBP
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL): a new report of an Italian woman and review of the literature.
Bock V, Botturi A, Gaviani P, Lamperti E, Maccagnano C, Piccio L, Silvani A, Salmaggi A.
J Neurol Sci 326(1-2):115-9. doi: 10.1016/j.jns.2013.01.021. Epub 2013 Feb 9. Review. 2013
2PLOSL1, PLOSL2, TREML2, TYROP
Developmental regulation of TREM2 and DAP12 expression in the murine CNS: implications for Nasu-Hakola disease.
Thrash JC, Torbett BE, Carson MJ.
Neurochem Res 34(1):38-45. Epub 2008 Apr 11. 2009
3PLOSL1, TYROBP
A novel compound heterozygous mutation in the DAP12 gene in a patient with Nasu-Hakola disease.
Kuroda R, Satoh J, Yamamura T, Anezaki T, Terada T, Yamazaki K, Obi T, Mizoguchi K.
J Neurol Sci 252(1):88-91. Epub 2006 Nov 27. 2007
4PLOSL1, PLOSL2
The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2.
Klunemann HH, Ridha BH, Magy L, Wherrett JR, Hemelsoet DM, Keen RW, De Bleecker JL, Rossor MN, Marienhagen J, Klein HE, Peltonen L, Paloneva J.
Neurology 64(9):1502-7. 2005
5PLOSL1
Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms.
Kondo T, Takahashi K, Kohara N, Takahashi Y, Hayashi S, Takahashi H, Matsuo H, Yamazaki M, Inoue K, Miyamoto K, Yamamura T.
Neurology 59(7):1105-7. 2002
6PLOSL1, TYROBP
Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.
Paloneva J, Kestila M, Wu J, Salminen A, Bohling T, Ruotsalainen V, Hakola P, Bakker AB, Phillips JH, Pekkarinen P, Lanier LL, Timonen T, Peltonen L.
Nat Genet 25(3):357-61. 2000
7HCST, PLOSL1, TYROBP
DAP12 and KAP10 (DAP10)-novel transmembrane adapter proteins of the CD3zeta family.
Wilson MJ, Lindquist JA, Trowsdale J.
Immunol Res 22(1):21-42. Review. 2000
8PLOSL1
Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.
Pekkarinen P, Hovatta I, Hakola P, Jarvi O, Kestila M, Lenkkeri U, Adolfsson R, Holmgren G, Nylander PO, Tranebjaerg L, Terwilliger JD, Lonnqvist J, Peltonen L.
Am J Hum Genet 62(2):362-72. 1998
9D19S1173, D19S1175, D19S1176, D19S610, PLOSL1
Fine-scale mapping of a novel dementia gene, PLOSL, by linkage disequilibrium.
Pekkarinen P, et al.
Genomics 54 : 307-315. 1998