Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Osamu Komure"'
Autor:
Akane Terasaki, Masayuki Nakamura, Yuka Urata, Hanae Hiwatashi, Izumi Yokoyama, Takeshi Yasuda, Teiichi Onuma, Kazumaru Wada, Sunao Kaneko, Rumiko Kan, Shin-ichi Niwa, Ohiko Hashimoto, Osamu Komure, Yu-ichi Goto, Yuko Yamagishi, Misa Nakano, Yoshihiko Furusawa, Akira Sano
Publikováno v:
Journal of human genetics. 66(4)
Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disease characterized by adult-onset tremulous hand movement, myoclonus, and infrequent epileptic seizures. Recently, intronic expansion of unstable TTTCA/TTTTA pentanucleotide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::733ef800b7fd6c3b7520f9d4fdc0c9a9
https://pubmed.ncbi.nlm.nih.gov/33184460
https://pubmed.ncbi.nlm.nih.gov/33184460
Autor:
Yui Tada, Osamu Komure, Ryosuke Ohsawa, Hideshi Kawakami, Takashi Kurashige, Hiroyuki Morino, Kodai Kume, Yukiko Matsuda, Yuhei Kanaya
Publikováno v:
Journal of the Neurological Sciences. 402:118-120
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d7a77af3b9f797e778b809e5203344bf
https://doi.org/10.1016/j.jns.2019.05.001
https://doi.org/10.1016/j.jns.2019.05.001
Autor:
Teiichi Onuma, Shin-Ichi Niwa, Akira Sano, Sunao Kaneko, Izumi Yokoyama, Yu-ichi Goto, Takeshi Yasuda, Yuko Yamagishi, Misa Nakano, Rumiko Kan, Yoshihiko Furusawa, Akane Terasaki, Ohiko Hashimoto, Kazumaru Wada, Hanae Hiwatashi, Masayuki Nakamura, Osamu Komure, Yuka Urata
Publikováno v:
Journal of Human Genetics. 66:449-450
Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disease characterized by adult-onset tremulous hand movement, myoclonus, and infrequent epileptic seizures. Recently, intronic expansion of unstable TTTCA/TTTTA pentanucleotide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4599326677160d46b13af9d730f77c62
https://doi.org/10.1038/s10038-020-00867-w
https://doi.org/10.1038/s10038-020-00867-w
Autor:
Fangzhou Li, Hirofumi Kusaka, Yuko Yamaguchi, Ryosuke Takahashi, Hideshi Kawakami, Takashi Ayaki, Masataka Nakamura, Masaki Kamada, Makoto Urushitani, Hidefumi Ito, Reika Wate, Osamu Komure
Publikováno v:
Journal of neuropathology and experimental neurology. 77(2)
Optineurin (OPTN) is a causative gene in familial amyotrophic lateral sclerosis (ALS) with transactivation response element DNA-binding protein of 43 kDa (TDP-43) protein pathology. Here, we report multiple proteinopathies in familial ALS cases with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1bc38bd5d548b77c8de5c313f87eb68
https://pubmed.ncbi.nlm.nih.gov/29272468
https://pubmed.ncbi.nlm.nih.gov/29272468
Autor:
Osamu Komure, Masaya Yanagi, Masaaki Fukutake, Toshio Kawamata, Takeshi Hashimoto, Noboru Kitamura, Osamu Shirakawa, Kiyoshi Maeda, Naoki Nishiguchi
Publikováno v:
Schizophrenia Research. 100:291-301
Genome-wide gene expression analysis using DNA microarray technology is a potential tool to search for unexpected genes that have a susceptibility to schizophrenia. We carried out a microarray analysis in the postmortem prefrontal cortex and found th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd8cca6c5ede13d68fb08f6a506d9806
https://doi.org/10.1016/j.schres.2007.11.042
https://doi.org/10.1016/j.schres.2007.11.042
Autor:
Koji Hamada, Akira Kakizuka, Haruko Fuyuhiro, Osamu Komure, Fumiaki Tanaka, Shingo Yasuda, Kohsuke Takeda, Kiyoshi Inoue, Hidenao Sasaki, Kuniaki Tsuchiya, Hidenori Ichijo, Yukio Yamamoto, Miho Hirabayashi, Hiroyuki Higashiyama, Gen Sobue
Publikováno v:
Genes to Cells. 4:743-756
Background A novel class of inherited human neurodegenerations is now known to be caused by expanded CAG repeats encoding polyglutamines. Polyglutamine-containing protein fragments have been shown to accumulate as aggregates in the nucleus and in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::79cd00bb36e51afc9f5e561d3f552a44
https://doi.org/10.1046/j.1365-2443.1999.00294.x
https://doi.org/10.1046/j.1365-2443.1999.00294.x
Publikováno v:
Neuroscience Letters. 260:181-184
Dopa-responsive dystonia (DRD) due to mutant GTP cyclohydrolase I (GCH) shows the considerable heterogeneity of clinical phenotypic expression. To explain the clinical diversity, we studied a Japanese family with a novel mutant GCH (GCH-G90V), where
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1e89801ea6c5c810f15fdfe2c3b6e58
https://doi.org/10.1016/s0304-3940(98)00984-7
https://doi.org/10.1016/s0304-3940(98)00984-7
Autor:
Yutaka Shirai, Osamu Komure, Xian-Hao Lin, Hisao Nakai, Takeshi Hashimoto, Yasuo Kajimoto, Chang-Qing Yang, Naoki Nishino, Takashi Nakai, Naoya Murakami, Osamu Shirakawa, Noboru Kitamura, Hideo Yamamoto, Tatsuo Mita
Publikováno v:
Biological Psychiatry. 43:254-262
Background: We examined possible abnormalities in neural structural proteins that may underlie morphometric changes reported in the left superior temporal cortices (Brodmann's area 22) of schizophrenics. Methods: Particulate proteins of the superior
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fb4e2c476082fba8189851b234efc4c
https://doi.org/10.1016/s0006-3223(97)00032-2
https://doi.org/10.1016/s0006-3223(97)00032-2
Autor:
Osamu Komure, Shigenobu Nakamura, Yasuo Kuroda, Hirofumi Maruyama, Masataka Nishimura, Yuishin Izumi, Hideshi Kawakami, Masakuni Kameyama, Takeshi Nishio, Zenjiro Matsuyama, Fukashi Udaka
Publikováno v:
Human Molecular Genetics. 6:1283-1287
Spinocerebellar ataxia 6 (SCA6) is an autosomal dominant spinocerebellar degeneration caused by the expansion of the polymorphic CAG repeat in the human alpha1A voltage-dependent calcium channel subunit gene (CACNL1A4 gene). We have analyzed 60 SCA6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02fc339f82989907c6dce27b0deb540d
https://doi.org/10.1093/hmg/6.8.1283
https://doi.org/10.1093/hmg/6.8.1283
Autor:
Takashi Ayaki, Hidefumi Ito, Osamu Komure, Masaki Kamada, Masataka Nakamura, Reika Wate, Hirofumi Kusaka, Yuko Yamaguchi, Fangzhou Li, Hideshi Kawakami, Makoto Urushitani, Ryosuke Takahashi
Publikováno v:
Journal of Neuropathology & Experimental Neurology; Feb2018, Vol. 77 Issue 2, p128-138, 11p