Format
Items per page
Sort by

Send to:

Choose Destination

Search results

Items: 1 to 20 of 29

1.

Membranous lipodystrophy: case report and review of the literature.

Akpinar F, Demir E, Apa DD.

An Bras Dermatol. 2015 May-Jun;90(3 Suppl 1):115-7. doi: 10.1590/abd1806-4841.20153677. Review.

2.

TREM2 sustains microglial expansion during aging and response to demyelination.

Poliani PL, Wang Y, Fontana E, Robinette ML, Yamanishi Y, Gilfillan S, Colonna M.

J Clin Invest. 2015 May;125(5):2161-70. doi: 10.1172/JCI77983. Epub 2015 Apr 20.

3.

Proteomic analysis of lymphoblastoid cells from Nasu-Hakola patients: a step forward in our understanding of this neurodegenerative disorder.

Giuliano S, Agresta AM, De Palma A, Viglio S, Mauri P, Fumagalli M, Iadarola P, Montalbetti L, Salvini R, Bardoni A.

PLoS One. 2014 Dec 3;9(12):e110073. doi: 10.1371/journal.pone.0110073. eCollection 2014.

4.

Nasu-Hakola disease revealed on X-ray.

Ohtani R, Shibuya K, Satoh J, Kuwabara S.

Intern Med. 2014;53(20):2407. Epub 2014 Oct 15. No abstract available.

5.

Computed tomography and magnetic resonance imaging in the osseous phase of Nasu-Hakola disease.

Brenner C, Speck-Martins CE, Brum JM, Lucato LT, Leite Cda C.

Arq Neuropsiquiatr. 2014 Aug;72(8):646-7. No abstract available.

6.

Production of wild-type and mutant-type human DAP12 proteins by Bombyx mori nucleopolyhedrovirus vector.

Uemura N, Tabunoki H, Suzuki T, Ishikawa K, Nojima Y, Katsuma S, Sato R, Satoh J.

Biosci Biotechnol Biochem. 2014;78(1):71-4. doi: 10.1080/09168451.2014.877824.

PMID:
25036486
7.

TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis.

Kleinberger G, Yamanishi Y, Suárez-Calvet M, Czirr E, Lohmann E, Cuyvers E, Struyfs H, Pettkus N, Wenninger-Weinzierl A, Mazaheri F, Tahirovic S, Lleó A, Alcolea D, Fortea J, Willem M, Lammich S, Molinuevo JL, Sánchez-Valle R, Antonell A, Ramirez A, Heneka MT, Sleegers K, van der Zee J, Martin JJ, Engelborghs S, Demirtas-Tatlidede A, Zetterberg H, Van Broeckhoven C, Gurvit H, Wyss-Coray T, Hardy J, Colonna M, Haass C.

Sci Transl Med. 2014 Jul 2;6(243):243ra86. doi: 10.1126/scitranslmed.3009093.

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.e23-5. doi: 10.1016/j.neurobiolaging.2014.04.010. Epub 2014 Apr 18.

9.

Coding variants in TREM2 increase risk for Alzheimer's disease.

Jin SC, Benitez BA, Karch CM, Cooper B, Skorupa T, Carrell D, Norton JB, Hsu S, Harari O, Cai Y, Bertelsen S, Goate AM, Cruchaga C.

Hum Mol Genet. 2014 Nov 1;23(21):5838-46. doi: 10.1093/hmg/ddu277. Epub 2014 Jun 4.

10.

LC3, an autophagosome marker, is expressed on oligodendrocytes in Nasu-Hakola disease brains.

Satoh J, Motohashi N, Kino Y, Ishida T, Yagishita S, Jinnai K, Arai N, Nakamagoe K, Tamaoka A, Saito Y, Arima K.

Orphanet J Rare Dis. 2014 May 1;9:68. doi: 10.1186/1750-1172-9-68.

11.

Direct induction of ramified microglia-like cells from human monocytes: dynamic microglial dysfunction in Nasu-Hakola disease.

Ohgidani M, Kato TA, Setoyama D, Sagata N, Hashimoto R, Shigenobu K, Yoshida T, Hayakawa K, Shimokawa N, Miura D, Utsumi H, Kanba S.

Sci Rep. 2014 May 14;4:4957. doi: 10.1038/srep04957.

12.

Membranous lipodystrophy: skeletal findings on CT and MRI.

Nwawka OK, Schneider R, Bansal M, Mintz DN, Lane J.

Skeletal Radiol. 2014 Oct;43(10):1449-55. doi: 10.1007/s00256-014-1887-5. Epub 2014 Apr 29.

PMID:
24777445
13.

Nasu-Hakola disease as suspected cause for bone disease and dementia.

Sahebari M, Abbasi B, Akhondpour Manteghi A, Abdollahi N.

J Clin Rheumatol. 2014 Apr;20(3):160-2. doi: 10.1097/RHU.0000000000000097. Review.

PMID:
24662559
14.

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
15.

The case of a 43-year old Turkish male patient with Nasu-Hakola disease.

Maner F, Ipekçioğlu D, Karamustafalıoğlu N, Karagöz Sakallı N, Cetinkaya O, Ilnem MC, Konuk N.

Asian J Psychiatr. 2013 Dec;6(6):631-2. doi: 10.1016/j.ajp.2013.08.068. Epub 2013 Sep 9. No abstract available.

PMID:
24309893
16.

Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia.

Cuyvers E, Bettens K, Philtjens S, Van Langenhove T, Gijselinck I, van der Zee J, Engelborghs S, Vandenbulcke M, Van Dongen J, Geerts N, Maes G, Mattheijssens M, Peeters K, Cras P, Vandenberghe R, De Deyn PP, Van Broeckhoven C, Cruts M, Sleegers K; BELNEU consortium.

Neurobiol Aging. 2014 Mar;35(3):726.e11-9. doi: 10.1016/j.neurobiolaging.2013.09.009. Epub 2013 Oct 9.

PMID:
24119542
17.

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.

18.

TREM2, frontotemporal dementia-like disease, Nasu-Hakola disease, and Alzheimer dementia: a chicken and egg problem?

Bianchin MM, Abujamra AL, Izquierdo I.

JAMA Neurol. 2013 Jun;70(6):805-6. doi: 10.1001/jamaneurol.2013.453. No abstract available.

PMID:
23753970
19.

Variants in triggering receptor expressed on myeloid cells 2 are associated with both behavioral variant frontotemporal lobar degeneration and Alzheimer's disease.

Giraldo M, Lopera F, Siniard AL, Corneveaux JJ, Schrauwen I, Carvajal J, Muñoz C, Ramirez-Restrepo M, Gaiteri C, Myers AJ, Caselli RJ, Kosik KS, Reiman EM, Huentelman MJ.

Neurobiol Aging. 2013 Aug;34(8):2077.e11-8. doi: 10.1016/j.neurobiolaging.2013.02.016. Epub 2013 Apr 9.

20.

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
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk