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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
Successful twin pregnancy in a patient with parkin-associated autosomal recessive juvenile parkinsonism.
Serikawa T, Shimohata T, Akashi M, Yokoseki A, Tsuchiya M, Hasegawa A, Haino K, Koike R, Takakuwa K, Tanaka K, Tanaka K, Nishizawa M. Serikawa T, et al. BMC Neurol. 2011 Jun 17;11:72. doi: 10.1186/1471-2377-11-72. BMC Neurol. 2011. PMID: 21682904 Free PMC article.
Partial deletions of putative adrenoleukodystrophy (ALD) gene in Japanese ALD patients.
Koike R, Onodera O, Tabe H, Kaneko K, Miyatake T, Iwasaki S, Nakano M, Shizuma N, Ikeguchi K, Nishizawa M, et al. Koike R, et al. Hum Mutat. 1995;6(3):263-7. doi: 10.1002/humu.1380060314. Hum Mutat. 1995. PMID: 8535450 No abstract available.
Physiological significance of fatty acid elongation system in adrenoleukodystrophy.
Koike R, Tsuji S, Ohno T, Suzuki Y, Orii T, Miyatake T. Koike R, et al. J Neurol Sci. 1991 Jun;103(2):188-94. doi: 10.1016/0022-510x(91)90163-2. J Neurol Sci. 1991. PMID: 1880537
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.
Date H, Onodera O, Tanaka H, Iwabuchi K, Uekawa K, Igarashi S, Koike R, Hiroi T, Yuasa T, Awaya Y, Sakai T, Takahashi T, Nagatomo H, Sekijima Y, Kawachi I, Takiyama Y, Nishizawa M, Fukuhara N, Saito K, Sugano S, Tsuji S. Date H, et al. Nat Genet. 2001 Oct;29(2):184-8. doi: 10.1038/ng1001-184. Nat Genet. 2001. PMID: 11586299
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