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Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families.
Hara K, Shiga A, Nozaki H, Mitsui J, Takahashi Y, Ishiguro H, Yomono H, Kurisaki H, Goto J, Ikeuchi T, Tsuji S, Nishizawa M, Onodera O. Hara K, et al. Among authors: shiga a. Neurology. 2008 Aug 19;71(8):547-51. doi: 10.1212/01.wnl.0000311277.71046.a0. Epub 2008 Jun 25. Neurology. 2008. PMID: 18579805
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. Among authors: shiga a. Neurology. 2016 May 24;86(21):1964-74. doi: 10.1212/WNL.0000000000002694. Epub 2016 Apr 27. Neurology. 2016. PMID: 27164673
TDP-43 mutation in familial amyotrophic lateral sclerosis.
Yokoseki A, Shiga A, Tan CF, Tagawa A, Kaneko H, Koyama A, Eguchi H, Tsujino A, Ikeuchi T, Kakita A, Okamoto K, Nishizawa M, Takahashi H, Onodera O. Yokoseki A, et al. Among authors: shiga a. Ann Neurol. 2008 Apr;63(4):538-42. doi: 10.1002/ana.21392. Ann Neurol. 2008. PMID: 18438952
Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.
Hara K, Shiga A, Fukutake T, Nozaki H, Miyashita A, Yokoseki A, Kawata H, Koyama A, Arima K, Takahashi T, Ikeda M, Shiota H, Tamura M, Shimoe Y, Hirayama M, Arisato T, Yanagawa S, Tanaka A, Nakano I, Ikeda S, Yoshida Y, Yamamoto T, Ikeuchi T, Kuwano R, Nishizawa M, Tsuji S, Onodera O. Hara K, et al. Among authors: shiga a. N Engl J Med. 2009 Apr 23;360(17):1729-39. doi: 10.1056/NEJMoa0801560. N Engl J Med. 2009. PMID: 19387015 Free article.
116 results