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Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
Ohba C, Osaka H, Iai M, Yamashita S, Suzuki Y, Aida N, Shimozawa N, Takamura A, Doi H, Tomita-Katsumoto A, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Eto Y, Tanaka F, Matsumoto N, Saitsu H. Ohba C, et al. Among authors: takamura a. Neurogenetics. 2013 Nov;14(3-4):225-32. doi: 10.1007/s10048-013-0375-8. Epub 2013 Oct 4. Neurogenetics. 2013. PMID: 24091540
The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome.
Hossain MA, Yanagisawa H, Miyajima T, Wu C, Takamura A, Akiyama K, Itagaki R, Eto K, Iwamoto T, Yokoi T, Kurosawa K, Numabe H, Eto Y. Hossain MA, et al. Among authors: takamura a. Mol Genet Metab. 2017 Mar;120(3):173-179. doi: 10.1016/j.ymgme.2017.01.002. Epub 2017 Jan 7. Mol Genet Metab. 2017. PMID: 28087245
An unusual case of elderly-onset cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with multiple cerebrovascular risk factors.
Watanabe M, Adachi Y, Jackson M, Yamamoto-Watanabe Y, Wakasaya Y, Shirahama I, Takamura A, Matsubara E, Kawarabayashi T, Shoji M. Watanabe M, et al. Among authors: takamura a. J Stroke Cerebrovasc Dis. 2012 Feb;21(2):143-5. doi: 10.1016/j.jstrokecerebrovasdis.2010.05.008. Epub 2010 Sep 19. J Stroke Cerebrovasc Dis. 2012. PMID: 20851625
An unusual case of chronic relapsing tetanus associated with mandibular osteomyelitis.
Wakasaya Y, Watanabe M, Tomiyama M, Suzuki C, Jackson M, Fujimuro M, Kimura T, Seino Y, Kawarabayashi T, Yamamoto-Watanabe Y, Matsubara E, Shirahama I, Takamura A, Nakahata N, Shoji M. Wakasaya Y, et al. Among authors: takamura a. Intern Med. 2009;48(15):1311-3. doi: 10.2169/internalmedicine.48.2136. Epub 2009 Aug 3. Intern Med. 2009. PMID: 19652437 Free article.
Factors responsible for neurofibrillary tangles and neuronal cell losses in tauopathy.
Wakasaya Y, Kawarabayashi T, Watanabe M, Yamamoto-Watanabe Y, Takamura A, Kurata T, Murakami T, Abe K, Yamada K, Wakabayashi K, Sasaki A, Westaway D, Hyslop PS, Matsubara E, Shoji M. Wakasaya Y, et al. Among authors: takamura a. J Neurosci Res. 2011 Apr;89(4):576-84. doi: 10.1002/jnr.22572. Epub 2011 Jan 13. J Neurosci Res. 2011. PMID: 21312224
126 results