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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: nishizawa m. Neurology. 2008 Aug 19;71(8):547-51. doi: 10.1212/01.wnl.0000311277.71046.a0. Epub 2008 Jun 25. Neurology. 2008. PMID: 18579805
Enhanced accumulation of phosphorylated alpha-synuclein and elevated beta-amyloid 42/40 ratio caused by expression of the presenilin-1 deltaT440 mutant associated with familial Lewy body disease and variant Alzheimer's disease.
Kaneko H, Kakita A, Kasuga K, Nozaki H, Ishikawa A, Miyashita A, Kuwano R, Ito G, Iwatsubo T, Takahashi H, Nishizawa M, Onodera O, Sisodia SS, Ikeuchi T. Kaneko H, et al. Among authors: nishizawa m. J Neurosci. 2007 Nov 28;27(48):13092-7. doi: 10.1523/JNEUROSCI.4244-07.2007. J Neurosci. 2007. PMID: 18045903 Free PMC article.
The phenotype spectrum of Japanese multiple system atrophy.
Ozawa T, Tada M, Kakita A, Onodera O, Tada M, Ishihara T, Morita T, Shimohata T, Wakabayashi K, Takahashi H, Nishizawa M. Ozawa T, et al. Among authors: nishizawa m. J Neurol Neurosurg Psychiatry. 2010 Nov;81(11):1253-5. doi: 10.1136/jnnp.2009.182576. Epub 2010 Jun 22. J Neurol Neurosurg Psychiatry. 2010. PMID: 20571046
1,160 results