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Journal Abstract Search

432 related items for PubMed ID: 10888890

  • 1. Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.
    Paloneva J, Kestilä M, Wu J, Salminen A, Böhling T, Ruotsalainen V, Hakola P, Bakker AB, Phillips JH, Pekkarinen P, Lanier LL, Timonen T, Peltonen L.
    Nat Genet; 2000 Jul; 25(3):357-61. PubMed ID: 10888890
    [Abstract] [Full Text] [Related]

  • 2. 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; 2007 Jan 15; 252(1):88-91. PubMed ID: 17125796
    [Abstract] [Full Text] [Related]

  • 3. Nasu-Hakola disease: a rare entity in Italy. Critical review of the literature.
    Montalbetti L, Soragna D, Ratti MT, Bini P, Buscone S, Moglia A.
    Funct Neurol; 2004 Jan 15; 19(3):171-9. PubMed ID: 15595711
    [Abstract] [Full Text] [Related]

  • 4. DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features.
    Paloneva J, Mandelin J, Kiialainen A, Bohling T, Prudlo J, Hakola P, Haltia M, Konttinen YT, Peltonen L.
    J Exp Med; 2003 Aug 18; 198(4):669-75. PubMed ID: 12925681
    [Abstract] [Full Text] [Related]

  • 5. The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2.
    Klünemann 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; 2005 May 10; 64(9):1502-7. PubMed ID: 15883308
    [Abstract] [Full Text] [Related]

  • 6. KARAP/DAP12/TYROBP: three names and a multiplicity of biological functions.
    Tomasello E, Vivier E.
    Eur J Immunol; 2005 Jun 10; 35(6):1670-7. PubMed ID: 15884055
    [Abstract] [Full Text] [Related]

  • 7. Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.
    Paloneva J, Manninen T, Christman G, Hovanes K, Mandelin J, Adolfsson R, Bianchin M, Bird T, Miranda R, Salmaggi A, Tranebjaerg L, Konttinen Y, Peltonen L.
    Am J Hum Genet; 2002 Sep 10; 71(3):656-62. PubMed ID: 12080485
    [Abstract] [Full Text] [Related]

  • 8. Dap12 and Trem2, molecules involved in innate immunity and neurodegeneration, are co-expressed in the CNS.
    Kiialainen A, Hovanes K, Paloneva J, Kopra O, Peltonen L.
    Neurobiol Dis; 2005 Mar 10; 18(2):314-22. PubMed ID: 15686960
    [Abstract] [Full Text] [Related]

  • 9. Fine-scale mapping of a novel dementia gene, PLOSL, by linkage disequilibrium.
    Pekkarinen P, Kestilä M, Paloneva J, Terwillign J, Varilo T, Järvi O, Hakola P, Peltonen L.
    Genomics; 1998 Dec 01; 54(2):307-15. PubMed ID: 9828133
    [Abstract] [Full Text] [Related]

  • 10. 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; 2002 Oct 08; 59(7):1105-7. PubMed ID: 12370476
    [Abstract] [Full Text] [Related]

  • 11. CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts.
    Paloneva J, Autti T, Raininko R, Partanen J, Salonen O, Puranen M, Hakola P, Haltia M.
    Neurology; 2001 Jun 12; 56(11):1552-8. PubMed ID: 11402114
    [Abstract] [Full Text] [Related]

  • 12. Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy--PLOSL): a dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects.
    Bianchin MM, Capella HM, Chaves DL, Steindel M, Grisard EC, Ganev GG, da Silva Júnior JP, Neto Evaldo S, Poffo MA, Walz R, Carlotti Júnior CG, Sakamoto AC.
    Cell Mol Neurobiol; 2004 Feb 12; 24(1):1-24. PubMed ID: 15049507
    [Abstract] [Full Text] [Related]

  • 13. Pathways participating in activation of mouse uterine natural killer cells during pregnancy.
    Xie X, He H, Colonna M, Seya T, Takai T, Croy BA.
    Biol Reprod; 2005 Sep 12; 73(3):510-8. PubMed ID: 15878887
    [Abstract] [Full Text] [Related]

  • 14. Mutations in TREM2 lead to pure early-onset dementia without bone cysts.
    Chouery E, Delague V, Bergougnoux A, Koussa S, Serre JL, Mégarbané A.
    Hum Mutat; 2008 Sep 12; 29(9):E194-204. PubMed ID: 18546367
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  • 18. Variable expression of microglial DAP12 and TREM2 genes in Nasu-Hakola disease.
    Sasaki A, Kakita A, Yoshida K, Konno T, Ikeuchi T, Hayashi S, Matsuo H, Shioda K.
    Neurogenetics; 2015 Oct 12; 16(4):265-76. PubMed ID: 26001891
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  • 19.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Paloneva J, Autti T, Hakola P, Haltia MJ.
    ; 1993 Oct 12. PubMed ID: 20301376
    [Abstract] [Full Text] [Related]

  • 20. C9ORF72 expansion does not affect the phenotype in Nasu-Hakola disease with the DAP12 mutation.
    Solje E, Hartikainen P, Valori M, Vanninen R, Tiihonen J, Hakola P, Tienari PJ, Remes AM.
    Neurobiol Aging; 2014 Jul 12; 35(7):1780.e13-7. PubMed ID: 24612676
    [Abstract] [Full Text] [Related]

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