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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.
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.
Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL.
Nozaki H, Kato T, Nihonmatsu M, Saito Y, Mizuta I, Noda T, Koike R, Miyazaki K, Kaito M, Ito S, Makino M, Koyama A, Shiga A, Uemura M, Sekine Y, Murakami A, Moritani S, Hara K, Yokoseki A, Kuwano R, Endo N, Momotsu T, Yoshida M, Nishizawa M, Mizuno T, Onodera O. Nozaki H, et al. Neurology. 2016 May 24;86(21):1964-74. doi: 10.1212/WNL.0000000000002694. Epub 2016 Apr 27. Neurology. 2016. PMID: 27164673
540 results