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529 results

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Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.
Miura T, Mezaki N, Konno T, Iwasaki A, Hara N, Miura M, Funayama M, Unai Y, Tashiro Y, Okita K, Kihara T, Ito N, Kanatsuka Y, Jones DT, Hara N, Ishiguro T, Tokutake T, Kasuga K, Nozaki H, Dickson DW, Onodera O, Wszolek ZK, Ikeuchi T. Miura T, et al. Among authors: nozaki h. J Neurol. 2018 Oct;265(10):2415-2424. doi: 10.1007/s00415-018-9017-2. Epub 2018 Aug 22. J Neurol. 2018. PMID: 30136118 Free PMC article.
Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.
Konno T, Tada M, Tada M, Koyama A, Nozaki H, Harigaya Y, Nishimiya J, Matsunaga A, Yoshikura N, Ishihara K, Arakawa M, Isami A, Okazaki K, Yokoo H, Itoh K, Yoneda M, Kawamura M, Inuzuka T, Takahashi H, Nishizawa M, Onodera O, Kakita A, Ikeuchi T. Konno T, et al. Among authors: nozaki h. Neurology. 2014 Jan 14;82(2):139-48. doi: 10.1212/WNL.0000000000000046. Epub 2013 Dec 13. Neurology. 2014. PMID: 24336230 Free PMC article.
Diagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia.
Konno T, Broderick DF, Mezaki N, Isami A, Kaneda D, Tashiro Y, Tokutake T, Keegan BM, Woodruff BK, Miura T, Nozaki H, Nishizawa M, Onodera O, Wszolek ZK, Ikeuchi T. Konno T, et al. Among authors: nozaki h. AJNR Am J Neuroradiol. 2017 Jan;38(1):77-83. doi: 10.3174/ajnr.A4938. Epub 2016 Sep 15. AJNR Am J Neuroradiol. 2017. PMID: 27633805 Free PMC article.
Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy.
Mezaki N, Miura T, Ogaki K, Eriguchi M, Mizuno Y, Komatsu K, Yamazaki H, Suetsugi N, Kawajiri S, Yamasaki R, Ishiguro T, Konno T, Nozaki H, Kasuga K, Okuma Y, Kira JI, Hara H, Onodera O, Ikeuchi T. Mezaki N, et al. Among authors: nozaki h. Neurol Genet. 2018 Dec 7;4(6):e292. doi: 10.1212/NXG.0000000000000292. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30697589 Free PMC article.
[Hereditary cerebral small-vessel disease].
Nozaki H, Nishizawa M, Onodera O. Nozaki H, et al. Nihon Rinsho. 2013 Mar;71(3):545-54. Nihon Rinsho. 2013. PMID: 23631251 Review. Japanese.
529 results