Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Junko KANDA"'
Publikováno v:
BMJ Case Reports; Nov2023, Vol. 16 Issue 11, p1-6, 6p
Autor:
Shoji Tsuji, Tatsuo Mano, Toshihiro Hayashi, Hiroyuki Ishiura, Shotaro Karino, Yaeko Ichikawa, Yu Nagashima, Jun Goto, Yuji Takahashi, Takashi Matsukawa, Takashi Kanbayashi, Jun Shimizu, Jun Ichi Kira, Junko Kanda Kikuchi
Publikováno v:
Journal of Molecular Neuroscience. 71:1796-1801
The phenotypes of patients with disease-associated variants in DNMT1 have been classified into two syndromes: hereditary sensory and autonomic neuropathy type 1E (HSAN1E, MIM614116, https://www.omim.org/ ) and autosomal dominant cerebellar ataxia, de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e58f02440e7f80069f06e01e5f471bb5
https://doi.org/10.1007/s12031-020-01784-5
https://doi.org/10.1007/s12031-020-01784-5
Publikováno v:
BMJ Case Reports; Jun2023, Vol. 16 Issue 6, p1-7, 7p
Autor:
M. Asem Almansour, Takuya Sasaki, Yusuke Sugiyama, Takashi Matsukawa, Jun Mitsui, Yoshio Sakiyama, Ryo Ohtomo, Katsuhisa Ogata, Mizuho Kawai, Wei Qu, Gaku Ohtomo, Shoji Tsuji, Jun Yoshimura, Yasuo Harigaya, Makiko Taira, Ai Huey Tan, Ichizo Nishino, Masaki Tanaka, Yoshihiko Nakazato, Yutaka Kohno, Tatsushi Toda, Satoru Morimoto, Hiroyuki Ishiura, Hisatomo Kowa, Yasushi Shiio, Yuko Saito, Aki Mitsue, Akihiko Mitsutake, Koichiro Doi, Junko Kanda Kikuchi, Hiroyuki Hatsuta, Yuji Takahashi, Shota Shibata, Yuta Suzuki, Shigeo Murayama, Shen-Yang Lim, Yasuo Terao, Atsushi Iwata, Tatsuo Mano, Hidetoshi Date, Yuichiro Shirota, Akitoshi Takeda, Yumi Umeda-Kameyama, Masashi Hamada, Jun Shimizu, Yaeko Ichikawa, Jun Goto, Miho Matsukawa, Jun Shinmi, Shinichi Morishita
Publikováno v:
Nature Genetics. 51:1222-1232
Noncoding repeat expansions cause various neuromuscular diseases, including myotonic dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic lateral sclerosis and benign adult familial myoclonic epilepsies. Inspired b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fabbca88fccb4f7916d5eafc2c7dbef
https://doi.org/10.1038/s41588-019-0458-z
https://doi.org/10.1038/s41588-019-0458-z
Autor:
Junko Kanda, Kikuchi, Yu, Nagashima, Tatsuo, Mano, Hiroyuki, Ishiura, Toshihiro, Hayashi, Jun, Shimizu, Takashi, Matsukawa, Yaeko, Ichikawa, Yuji, Takahashi, Shotaro, Karino, Takashi, Kanbayashi, Junichi, Kira, Jun, Goto, Shoji, Tsuji
Publikováno v:
Journal of molecular neuroscience : MN. 71(9)
The phenotypes of patients with disease-associated variants in DNMT1 have been classified into two syndromes: hereditary sensory and autonomic neuropathy type 1E (HSAN1E, MIM614116, https://www.omim.org/ ) and autosomal dominant cerebellar ataxia, de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::da8e94ae799804b4d6476db87b1941ae
https://pubmed.ncbi.nlm.nih.gov/33433851
https://pubmed.ncbi.nlm.nih.gov/33433851
Autor:
Atsushi Iwata, Yuichiro Shirota, Yasuhisa Sakurai, Junko Kanda, Harushi Mori, Kenichiro Taira, Masako Ikemura, Shoji Tsuji, Nanaka Yamaguchi, Tatsuo Mano, Jun Shimizu, Yasuo Yanagi, Ryo Ohtomo, Teppei Morikawa, M. Asem Almansour, Shigeo Murayama, Hiroyuki Ishiura
Publikováno v:
Internal Medicine
Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease with marked variety in its clinical manifestations. While characteristic neuroimaging and skin biopsy findings are important clues to the diagnosis, autopsy studies ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb6dd03dce88eaee774712f692f879ac
https://doi.org/10.2169/internalmedicine.1141-18
https://doi.org/10.2169/internalmedicine.1141-18
Akademický článek
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Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
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Autor:
Yasuko Toyoshima, Shoichi Ishiura, Taisuke Otsuki, Yoshikazu Ugawa, Norio Kanesawa, Yutaka Suzuki, Akira Tamaoka, Yuji Takahashi, Masashi Hamada, Ryoko Koike, Hiroshi Akiyama, Ritsuko Hanajima, Jun Shimizu, Hitoshi Takahashi, Koji Abe, Takashi Matsukawa, Takefumi Hitomi, Jun Mitsui, Mieko Otsuka, Yasuo Terao, Shota Shibata, Mutsuo Sasagawa, Shoji Tsuji, Yutaka Saito, Takeshi Yasuda, Takayuki Kondo, Wei Qu, Koichiro Higasa, Masaki Tanaka, Asao Fujiyama, Sumio Sugano, Akira Sano, Hideaki Yurino, Hidetoshi Date, Miho Matsukawa, Junko Kanda, Osamu Onodera, Satomi Inomata-Terada, Masayuki Nakamura, Yuichiro Shirota, Akatsuki Kubota, Jun Yoshimura, Toshihiro Hayashi, Ryo Yamasaki, K. Kaida, Akio Ikeda, Akiyoshi Kakita, Yoshio Sakiyama, Kazuhiro Sanpei, Jun Goto, Yasuko Kuroha, Aki Mitsue, Naoya Hasegawa, Masatoyo Nishizawa, Hiroki Takano, Akira Ueki, Kazuki Ichikawa, Fumiko Kusunoki Nakamoto, Mana Higashihara, Yoshihisa Takiyama, Shinichi Morishita, Koichiro Doi, Yaeko Ichikawa, Natsumi Ohsawa-Yoshida, Kishin Koh, Hiroyuki Ishiura, Masayoshi Tada
Publikováno v:
Nature genetics. 50(4)
Epilepsy is a common neurological disorder, and mutations in genes encoding ion channels or neurotransmitter receptors are frequent causes of monogenic forms of epilepsy. Here we show that abnormal expansions of TTTCA and TTTTA repeats in intron 4 of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e0667ba844436dc89160e64c454605b
https://pubmed.ncbi.nlm.nih.gov/30254519
https://pubmed.ncbi.nlm.nih.gov/30254519
Publikováno v:
SANGYO EISEIGAKU ZASSHI. 46:117-121
We made this report with a view to clarifying the effects of group counseling with visual aids for railway workers enjoying improved health conducted as a part of prevention activities for lifestyle-related diseases such as diabetes. We employed the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c79b4c7eae08db86e0745512d49ab4c8
https://doi.org/10.1539/sangyoeisei.46.117
https://doi.org/10.1539/sangyoeisei.46.117