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Quoted phrase not found in phrase index: "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1"
Page 1
Triggering receptor expressed on myeloid cells receptor family modulators: a patent review.
Pelham CJ, Pandya AN, Agrawal DK. Pelham CJ, et al. Expert Opin Ther Pat. 2014 Dec;24(12):1383-95. doi: 10.1517/13543776.2014.977865. Epub 2014 Nov 1. Expert Opin Ther Pat. 2014. PMID: 25363248 Free PMC article. Review.
AREAS COVERED: This review covers findings related to TREMs and TLTs published in patent applications from their discovery in 2000 to the present. New roles for TREM-1, TREM-2, TLT-1 and TLT-2 in maladies ranging from acute and chronic inflammatory disorders to card …
AREAS COVERED: This review covers findings related to TREMs and TLTs published in patent applications from their discovery in 2000 to the pr …
Benton's Visual Retention Test in patients with polycystic lipomembranous dysplasia with sclerosing leukoencephalopathy.
Hakola HP. Hakola HP. Dement Geriatr Cogn Disord. 1998 Jan-Feb;9(1):39-43. doi: 10.1159/000017020. Dement Geriatr Cogn Disord. 1998. PMID: 9469264 Clinical Trial.
Eighteen patients suffering from polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy were examined with Benton's Visual Retention Test (BVRT, form C, administration A). ...
Eighteen patients suffering from polycystic lipomembranous osteodysplasia with sclerosing leukoencepha …
Heterozygous TYROBP deletion (PLOSLFIN) is not a strong risk factor for cognitive impairment.
Kaivola K, Jansson L, Saarentaus E, Kiviharju A, Rantalainen V, Eriksson JG, Strandberg TE, Polvikoski T, Myllykangas L, Tienari PJ. Kaivola K, et al. Neurobiol Aging. 2018 Apr;64:159.e1-159.e4. doi: 10.1016/j.neurobiolaging.2017.12.008. Epub 2017 Dec 18. Neurobiol Aging. 2018. PMID: 29336840
Biallelic loss-of-function mutations in TYROBP and TREM2 cause a rare disease that resembles early-onset frontotemporal dementia with bone lesions called polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) …
Biallelic loss-of-function mutations in TYROBP and TREM2 cause a rare disease that resembles early-onset frontotemporal dementia with bone l …
Novel TREM2 splicing isoform that lacks the V-set immunoglobulin domain is abundant in the human brain.
Kiianitsa K, Kurtz I, Beeman N, Matsushita M, Chien WM, Raskind WH, Korvatska O. Kiianitsa K, et al. J Leukoc Biol. 2021 Nov;110(5):829-837. doi: 10.1002/JLB.2HI0720-463RR. Epub 2021 Jun 1. J Leukoc Biol. 2021. PMID: 34061398 Free PMC article.
In the brain, TREM2 plays an important role in the immune function of microglia, and its dysfunction is linked to various neurodegenerative conditions in humans. Ablation of TREM2 or its adaptor protein TYROBP causes polycystic lipomembranous osteodysplasia …
In the brain, TREM2 plays an important role in the immune function of microglia, and its dysfunction is linked to various neurodegenerative …
Mutations in TYROBP are not a common cause of dementia in a Turkish cohort.
Darwent L, Carmona S, Lohmann E, Guven G, Kun-Rodrigues C, Bilgic B, Hanagasi H, Gurvit H, Erginel-Unaltuna N, Pak M, Hardy J, Singleton A, Brás J, Guerreiro R. Darwent L, et al. Neurobiol Aging. 2017 Oct;58:240.e1-240.e3. doi: 10.1016/j.neurobiolaging.2017.06.019. Epub 2017 Jun 28. Neurobiol Aging. 2017. PMID: 28716534 Free PMC article.
Mutations in TYROBP and TREM2 have been shown to cause polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. ...
Mutations in TYROBP and TREM2 have been shown to cause polycystic lipomembranous osteodysplasia with sclerosi …
Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement.
Guerreiro RJ, Lohmann E, Brás JM, Gibbs JR, Rohrer JD, Gurunlian N, Dursun B, Bilgic B, Hanagasi H, Gurvit H, Emre M, Singleton A, Hardy J. Guerreiro RJ, et al. JAMA Neurol. 2013 Jan;70(1):78-84. doi: 10.1001/jamaneurol.2013.579. JAMA Neurol. 2013. PMID: 23318515 Free PMC article.
RESULTS: In 3 probands with FTD-like disease, we identified different homozygous mutations in TREM2 that had previously been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). ...
RESULTS: In 3 probands with FTD-like disease, we identified different homozygous mutations in TREM2 that had previously been associated with …