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Journal Abstract Search

183 related items for PubMed ID: 17125796

  • 1. 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]

  • 2. 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 15; 25(3):357-61. PubMed ID: 10888890
    [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 Jul 15; 19(3):171-9. PubMed ID: 15595711
    [Abstract] [Full Text] [Related]

  • 4. 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 15; 16(4):265-76. PubMed ID: 26001891
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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]

  • 7. A novel mutation in TREM2 gene causing Nasu-Hakola disease and review of the literature.
    Dardiotis E, Siokas V, Pantazi E, Dardioti M, Rikos D, Xiromerisiou G, Markou A, Papadimitriou D, Speletas M, Hadjigeorgiou GM.
    Neurobiol Aging; 2017 May 10; 53():194.e13-194.e22. PubMed ID: 28214109
    [Abstract] [Full Text] [Related]

  • 8. 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 10; 35(7):1780.e13-7. PubMed ID: 24612676
    [Abstract] [Full Text] [Related]

  • 9. [Nasu Hakola disease: a report of the first two cases in Bolivia].
    Molina-Monasterios MC, Molina-Abecia H.
    Rev Neurol; 2014 Jul 10; 36(9):837-40. PubMed ID: 12717671
    [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. Nasu-Hakola disease: The first case reported by Nasu and review: The 50th Anniversary of Japanese Society of Neuropathology.
    Kaneko M, Sano K, Nakayama J, Amano N.
    Neuropathology; 2010 Oct 08; 30(5):463-70. PubMed ID: 20500450
    [Abstract] [Full Text] [Related]

  • 12. 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 08; 29(9):E194-204. PubMed ID: 18546367
    [Abstract] [Full Text] [Related]

  • 13. The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2.
    Bianchin MM, Lima JE, Natel J, Sakamoto AC.
    Neurology; 2006 Feb 28; 66(4):615-6; author reply 615-6. PubMed ID: 16505336
    [No Abstract] [Full Text] [Related]

  • 14. 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 28; 24(1):1-24. PubMed ID: 15049507
    [Abstract] [Full Text] [Related]

  • 15. [Molecular Pathogenesis of Nasu-Hakola Disease Brain Lesions].
    Satoh J.
    Brain Nerve; 2016 May 28; 68(5):543-50. PubMed ID: 27156507
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. Immunohistochemical characterization of microglia in Nasu-Hakola disease brains.
    Satoh J, Tabunoki H, Ishida T, Yagishita S, Jinnai K, Futamura N, Kobayashi M, Toyoshima I, Yoshioka T, Enomoto K, Arai N, Arima K.
    Neuropathology; 2011 Aug 12; 31(4):363-75. PubMed ID: 21118401
    [Abstract] [Full Text] [Related]

  • 18. Gene expression profile of THP-1 monocytes following knockdown of DAP12, a causative gene for Nasu-Hakola disease.
    Satoh J, Shimamura Y, Tabunoki H.
    Cell Mol Neurobiol; 2012 Apr 12; 32(3):337-43. PubMed ID: 22080356
    [Abstract] [Full Text] [Related]

  • 19. Neuropsychological tests and functional nuclear neuroimaging provide evidence of subclinical impairment in Nasu-Hakola disease heterozygotes.
    Montalbetti L, Ratti MT, Greco B, Aprile C, Moglia A, Soragna D.
    Funct Neurol; 2005 Apr 12; 20(2):71-5. PubMed ID: 15966270
    [Abstract] [Full Text] [Related]

  • 20. An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene.
    Soragna D, Papi L, Ratti MT, Sestini R, Tupler R, Montalbetti L.
    J Neurol Neurosurg Psychiatry; 2003 Jun 12; 74(6):825-6. PubMed ID: 12754369
    [No Abstract] [Full Text] [Related]

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