*Japanese*
Neurology
Cerebrospinal fluid biomarkers of Alzheimer's disease are associated with carotid plaque score and hemodynamics in intra- and extra-cranial arteries on ultrasonography. , Kouzuki Minoru, Nagano Masaya, Suzuki Tetsuya, Katsumata Yuto, Nakamura Syouta, Takamura Ayumi, Urakami Katsuya , Journal of Clinical Neuroscience , vol.49 (1) (p.32 - 36) , 2018.03 , There is Review , The Multiple Authorship , English
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. , Mol Genet Metab. , vol.120 (3) (p.173 - 179) , 2017.03 , There is Review , The Multiple Authorship , English
Identification of a novel GLA mutation (F69L) in a Japanese patient with late-onset Fabry disease , Umeda T, Hashimoto S, Noriyasu K, Takamura A, Fujisaki M, Eto Y , Human Genome Variation , 2015.11 , There is Review , The Multiple Authorship , English
Cholesterol ester storage disease with a novel LIPA mutation (L264P) that presented massive hepatomegaly: A case report. , Kuranobu N, Murakami J1, Okamoto K, Nishimura R, Murayama K, Takamura A, Umeda T, Eto Y, Kanzaki S , Hepatology Research , 2015.08 , There is Review , The Multiple Authorship , English
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. , Neurogenetics. , vol.14 ((3-4)) (p.225 - 232) , 2013.11 , There is Review , The Multiple Authorship , English
Updated on 2022/12/13