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1. 小児における常染色体劣性多発性嚢胞腎 autosomal recessive polycystic kidney disease in children
2. 常染色体優性多発性嚢胞腎の遺伝学および嚢胞成長のメカニズム genetics of autosomal dominant polycystic kidney disease and mechanisms of cyst growth
3. 常染色体優性多発性嚢胞腎の経過および治療 course and treatment of autosomal dominant polycystic kidney disease
4. 小児における常染色体優性多発性嚢胞腎 autosomal dominant polycystic kidney disease in children
5. 成人における多嚢胞性卵巣症候群の診断 diagnosis of polycystic ovary syndrome in adults

English Journal

Sporadic adult-onset leucodystrophy with axonal spheroids and pigmented glia with no mutations in the known targeted genes.

Fernández-Vega I1,2, Pérez de Heredia-Goñi K2, Santos-Juanes J3, Goñi Imizcoz M4, Zaldumbide L5, Zarranz JJ6, Ferrer I7.
Histopathology.Histopathology.2016 Jan;68(2):308-12. doi: 10.1111/his.12741. Epub 2015 Jul 6.
AIMS: Adult-onset orthochromatic leucodystrophy, associated with pigmented macrophages and hereditary diffuse leucoencephalopathy with spheroids, are two disorders with similar clinical manifestations, radiological characteristics and neuropathological findings. Mutations in the colony-stimulating f
PMID 26018837

Sasaki A1, Kakita A2, Yoshida K3, Konno T4, Ikeuchi T5, Hayashi S6, Matsuo H7, Shioda K8.
Neurogenetics.Neurogenetics.2015 Oct;16(4):265-76. doi: 10.1007/s10048-015-0451-3. Epub 2015 May 23.
Nasu-Hakola disease (NHD) is a form of presenile dementia associated with sclerosing leukoencephalopathy and polycystic lipomembranous osteodysplasia. This extremely rare inherited disease is caused by mutations in either DAP12 or TREM2. The present study was designed to assess the relationship betw
PMID 26001891

Poliani PL, Wang Y, Fontana E, Robinette ML, Yamanishi Y, Gilfillan S, Colonna M.
The Journal of clinical investigation.J Clin Invest.2015 May;125(5):2161-70. doi: 10.1172/JCI77983. Epub 2015 Apr 20.
Microglia contribute to development, homeostasis, and immunity of the CNS. Like other tissue-resident macrophage populations, microglia express the surface receptor triggering receptor expressed on myeloid cells 2 (TREM2), which binds polyanions, such as dextran sulphate and bacterial LPS, and activ
PMID 25893602

Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-PLOSL) : a dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects

Nasu-Hakola syndorome : Polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy and presenile dementia

Vascular changes and blood-brain barrier damage in the pathogenesis, of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy)