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Items: 16

1.

A novel homozygous mutation in TREM2 found in a Chinese early-onset dementia family with mild bone involvement.

Li X, Sun Y, Gong L, Zheng L, Chen K, Zhou Y, Gu Y, Xu Y, Guo Q, Hong Z, Ding D, Fu J, Zhao Q.

Neurobiol Aging. 2019 Jan 24. pii: S0197-4580(19)30019-3. doi: 10.1016/j.neurobiolaging.2019.01.009. [Epub ahead of print]

PMID:
30797549
2.

CSF sTREM2 in delirium-relation to Alzheimer's disease CSF biomarkers Aβ42, t-tau and p-tau.

Henjum K, Quist-Paulsen E, Zetterberg H, Blennow K, Nilsson LNG, Watne LO.

J Neuroinflammation. 2018 Nov 3;15(1):304. doi: 10.1186/s12974-018-1331-1.

3.

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;53:194.e13-194.e22. doi: 10.1016/j.neurobiolaging.2017.01.015. Epub 2017 Jan 20. Review.

PMID:
28214109
4.

[Molecular Pathogenesis of Nasu-Hakola Disease Brain Lesions].

Satoh J.

Brain Nerve. 2016 May;68(5):543-50. doi: 10.11477/mf.1416200435. Japanese.

PMID:
27156507
5.

A Case of Nasu-Hakola Disease without Fractures or Consanguinity Diagnosed Using Exome Sequencing and Treated with Sodium Valproate.

Yamazaki K, Yoshino Y, Mori Y, Ochi S, Yoshida T, Ishimaru T, Ueno S.

Clin Psychopharmacol Neurosci. 2015 Dec 31;13(3):324-6. doi: 10.9758/cpn.2015.13.3.324.

6.

The TREM2-DAP12 signaling pathway in Nasu-Hakola disease: a molecular genetics perspective.

Xing J, Titus AR, Humphrey MB.

Res Rep Biochem. 2015;5:89-100. Epub 2015 Mar 17.

7.

Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL).

Paloneva J, Autti T, Hakola P, Haltia MJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2002 Jan 24 [updated 2015 Mar 12].

8.

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.

Le Ber I, De Septenville A, Guerreiro R, Bras J, Camuzat A, Caroppo P, Lattante S, Couarch P, Kabashi E, Bouya-Ahmed K, Dubois B, Brice A.

Neurobiol Aging. 2014 Oct;35(10):2419.e23-2419.e25. doi: 10.1016/j.neurobiolaging.2014.04.010. Epub 2014 Apr 18.

9.

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;35(7):1780.e13-7. doi: 10.1016/j.neurobiolaging.2014.01.149. Epub 2014 Feb 5.

PMID:
24612676
10.

Novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family.

Guerreiro R, Bilgic B, Guven G, Brás J, Rohrer J, Lohmann E, Hanagasi H, Gurvit H, Emre M.

Neurobiol Aging. 2013 Dec;34(12):2890.e1-5. doi: 10.1016/j.neurobiolaging.2013.06.005. Epub 2013 Jul 17. Review.

11.

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. 2013 Mar 15;326(1-2):115-9. doi: 10.1016/j.jns.2013.01.021. Epub 2013 Feb 9. Review.

PMID:
23399524
12.

TREM2 and β-catenin regulate bone homeostasis by controlling the rate of osteoclastogenesis.

Otero K, Shinohara M, Zhao H, Cella M, Gilfillan S, Colucci A, Faccio R, Ross FP, Teitelbaum SL, Takayanagi H, Colonna M.

J Immunol. 2012 Mar 15;188(6):2612-21. doi: 10.4049/jimmunol.1102836. Epub 2012 Feb 6. Erratum in: J Immunol. 2012 Jun 1;188(11):5802.

13.

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;30(5):463-70. doi: 10.1111/j.1440-1789.2010.01127.x. Review.

PMID:
20500450
14.

Gene expression profile of the bone microenvironment in human fragility fracture bone.

Hopwood B, Tsykin A, Findlay DM, Fazzalari NL.

Bone. 2009 Jan;44(1):87-101. doi: 10.1016/j.bone.2008.08.120. Epub 2008 Sep 10.

PMID:
18840552
15.

Transcript profiles of dendritic cells of PLOSL patients link demyelinating CNS disorders with abnormalities in pathways of actin bundling and immune response.

Kiialainen A, Veckman V, Saharinen J, Paloneva J, Gentile M, Hakola P, Hemelsoet D, Ridha B, Kopra O, Julkunen I, Peltonen L.

J Mol Med (Berl). 2007 Sep;85(9):971-83. Epub 2007 May 26.

PMID:
17530208
16.

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.

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