Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Yohane, Miyata"'
Autor:
Nodoka Hinokuma, Mitsuko Nakashima, Hideyuki Asai, Kazuyuki Nakamura, Shinjiro Akaboshi, Masataka Fukuoka, Masami Togawa, Shingo Oana, Koyo Ohno, Mariko Kasai, Chikako Ogawa, Kazuna Yamamoto, Kiyohito Okumiya, Pin Fee Chong, Ryutaro Kira, Shumpei Uchino, Tetsuhiro Fukuyama, Tomoe Shinagawa, Yohane Miyata, Yuichi Abe, Akira Hojo, Kozue Kobayashi, Yoshihiro Maegaki, Nobutsune Ishikawa, Hiroko Ikeda, Masano Amamoto, Takeshi Mizuguchi, Kazuhiro Iwama, Toshiyuki Itai, Satoko Miyatake, Hirotomo Saitsu, Naomichi Matsumoto, Mitsuhiro Kato
Publikováno v:
Epilepsia Open, Vol 5, Iss 3, Pp 442-450 (2020)
Abstract Objective To elucidate the genetic background and genotype‐phenotype correlations for epilepsy with myoclonic‐atonic seizures, also known as myoclonic‐astatic epilepsy (MAE) or Doose syndrome. Methods We collected clinical information
Externí odkaz:
https://doaj.org/article/17efe75a57e94761b422dbd148928d15
Autor:
Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Yukitoshi Takahashi, Nobuhiko Okamoto, Hitoshi Osaka, Kazuyuki Nakamura, Jun Tohyama, Kazuhiro Haginoya, Saoko Takeshita, Ichiro Kuki, Tohru Okanishi, Tomohide Goto, Masayuki Sasaki, Yasunari Sakai, Noriko Miyake, Satoko Miyatake, Naomi Tsuchida, Kazuhiro Iwama, Gaku Minase, Futoshi Sekiguchi, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Yuri Uchiyama, Kohei Hamanaka, Chihiro Ohba, Toshiyuki Itai, Hiromi Aoi, Ken Saida, Tomohiro Sakaguchi, Kouhei Den, Rina Takahashi, Hiroko Ikeda, Tokito Yamaguchi, Kazuki Tsukamoto, Shinsaku Yoshitomi, Taikan Oboshi, Katsumi Imai, Tomokazu Kimizu, Yu Kobayashi, Masaya Kubota, Hirofumi Kashii, Shimpei Baba, Mizue Iai, Ryutaro Kira, Munetsugu Hara, Masayasu Ohta, Yohane Miyata, Rie Miyata, Jun-ichi Takanashi, Jun Matsui, Kenji Yokochi, Masayuki Shimono, Masano Amamoto, Rumiko Takayama, Shinichi Hirabayashi, Kaori Aiba, Hiroshi Matsumoto, Shin Nabatame, Takashi Shiihara, Mitsuhiro Kato, Naomichi Matsumoto
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Many causative genes are known for epileptic or developmental and epileptic encephalopathies (EE/DEE) yet a genetic diagnosis cannot be made for many patients. Here, the authors analyse whole exome sequencing data from a Japanese case−control cohor
Externí odkaz:
https://doaj.org/article/16a9920cc8234e80bb6236676c9ac817
Autor:
Takeru Honda, Hiroshi Mitoma, Hirotaka Yoshida, Kyota Bando, Hiroo Terashi, Takeshi Taguchi, Yohane Miyata, Satoko Kumada, Takashi Hanakawa, Hitoshi Aizawa, Shiro Yano, Toshiyuki Kondo, Hidehiro Mizusawa, Mario Manto, Shinji Kakei
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Current assessment of patients with cerebellar disorders is based on conventional neurological examination that is dependent on subjective judgements. Quantitative measurement of cerebellar ataxias (CAs) is essential for assessment of evidence-based
Externí odkaz:
https://doaj.org/article/4f383c6b4f024d8b999cb47dcc17301b
Autor:
Satoru Ochiai, Itaru Hayakawa, Eri Ohashi, Sho Hamano, Yohane Miyata, Hiroshi Sakuma, Keita Hogetsu, Yoshihiro Gocho, Masao Ogura, Toru Uchiyama, Yuichi Abe
Publikováno v:
Brain and Development. 44:630-634
Autor:
Chika Shigeyasu, Masakazu Yamada, Yohane Miyata, Yuri Uchiyama, Naomichi Matsumoto, Yumi Kusumi, Atsushi Shiraishi
Publikováno v:
Cornea.
Autor:
Yohane Miyata, Yonehiro Kanemura, Yuri Uchiyama, Fumihito Nozaki, Fumikatsu Nohara, Satomi Mitsuhashi, Satoshi Hada, Akihito Takeuchi, Fumihiko Ishida, Fumitaka Yoshioka, Hiroshi Terashima, Jiu Okuno-Yuguchi, Hirotomo Saitsu, Tadayuki Kumagai, Hidetoshi Taniguchi, Hiroshi Doi, Atsushi Takata, Atsuko Harada, Shinji Saitoh, Hitoshi Osaka, Eri Imagawa, Yusuke Mitani, Ayako Hattori, Yasuji Kitabatake, Koichi Tanda, Jun-ichi Takanashi, Atsushi Fujita, Hiroshi Arai, Ichiro Kuki, Makoto Kinoshita, Chikako Ogawa, Toshiyuki Itai, Yoshinori Tsurusaki, Yoshihiko Saito, Noriko Togashi, Noriko Miyake, Mazumi Miura, Hiroyuki Higashiyama, Masayasu Ohta, Yoshiichi Abe, Tetsuhiro Fukuyama, Yusuke Yachi, Tomoko Tandou, Etsuko Miyagi, Satoko Kumada, Shoko Shimokawa, Naomichi Matsumoto, Yuko Takei, Keiko Hirano, Satori Hirai, Keiichi Ozono, Yukihiro Kitai, Yuichi Takami, Mitsuo Motobayashi, Ryoko Honda, Masafumi Morimoto, Takaaki Nakano, Yuki Maki, Satoko Miyatake, Akihiko Ishiyama, Tatsuya Fukasawa, Mitsuhiro Kato, Yoshiteru Azuma, Robert Smigiel, Yushi Noguchi, Tsuyoshi Omi, Kohei Hamanaka, Naoki Ando, Masataka Taguri, Takeshi Mizuguchi, Chizuru Seiwa, Mitsuko Nakashima, Eriko Koshimizu, Shin Nabatame, Teruyuki Ishikura
Publikováno v:
Journal of Medical Genetics. 58:505-513
BackgroundVariants in the type IV collagen gene (COL4A1/2) cause early-onset cerebrovascular diseases. Most individuals are diagnosed postnatally, and the prenatal features of individuals with COL4A1/2 variants remain unclear.MethodsWe examined COL4A
Autor:
Kazuyuki Nakamura, Nodoka Hinokuma, Nobutsune Ishikawa, Koyo Ohno, Kazuhiro Iwama, Satoko Miyatake, Masataka Fukuoka, Naomichi Matsumoto, Kazuna Yamamoto, Masano Amamoto, Mariko Kasai, Tetsuhiro Fukuyama, Toshiyuki Itai, Shinjiro Akaboshi, Chikako Ogawa, Yohane Miyata, Pin Fee Chong, Hiroko Ikeda, Tomoe Shinagawa, Yuichi Abe, Mitsuhiro Kato, Kiyohito Okumiya, Shingo Oana, Shumpei Uchino, Kozue Kobayashi, Ryutaro Kira, Hideyuki Asai, Akira Hojo, Masami Togawa, Hirotomo Saitsu, Yoshihiro Maegaki, Mitsuko Nakashima, Takeshi Mizuguchi
Publikováno v:
Epilepsia Open
Epilepsia Open, Vol 5, Iss 3, Pp 442-450 (2020)
Epilepsia Open, Vol 5, Iss 3, Pp 442-450 (2020)
Objective To elucidate the genetic background and genotype‐phenotype correlations for epilepsy with myoclonic‐atonic seizures, also known as myoclonic‐astatic epilepsy (MAE) or Doose syndrome. Methods We collected clinical information and blood
Autor:
Hiroaki Hisakawa, Rie Miyata, Kohsuke Imai, Naoyuki Tanuma, Setsuko Hasegawa, Yohane Miyata, Akio Fujine, Kenichi Kashimada, Masatoshi Takagi, Takatoshi Hosokawa, Ayako Kashimada, Atsumi Tsuji-Hosokawa, Satoko Kumada, Yuji Sugawara, Tomoko Mizuno, Mitsugu Uematsu, Kengo Moriyama, Masaharu Hayashi, Shuki Mizutani, Takeshi Hasegawa, Tomohiro Morio, Hideaki Mashimo, Hiroshi Sakuma, Ikuko Shirai, Hiroya Nishida
Publikováno v:
Pediatric Neurology. 100:60-66
Background Ataxia telangiectasia is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Quality of life is severely impaired by neurological symptoms. However, curati
Publikováno v:
Pediatrics International. 64
Autor:
Toshiyuki, Itai, Satoko, Miyatake, Masataka, Taguri, Fumihito, Nozaki, Masayasu, Ohta, Hitoshi, Osaka, Masafumi, Morimoto, Tomoko, Tandou, Fumikatsu, Nohara, Yuichi, Takami, Fumitaka, Yoshioka, Shoko, Shimokawa, Jiu, Okuno-Yuguchi, Mitsuo, Motobayashi, Yuko, Takei, Tetsuhiro, Fukuyama, Satoko, Kumada, Yohane, Miyata, Chikako, Ogawa, Yuki, Maki, Noriko, Togashi, Teruyuki, Ishikura, Makoto, Kinoshita, Yusuke, Mitani, Yonehiro, Kanemura, Tsuyoshi, Omi, Naoki, Ando, Ayako, Hattori, Shinji, Saitoh, Yukihiro, Kitai, Satori, Hirai, Hiroshi, Arai, Fumihiko, Ishida, Hidetoshi, Taniguchi, Yasuji, Kitabatake, Keiichi, Ozono, Shin, Nabatame, Robert, Smigiel, Mitsuhiro, Kato, Koichi, Tanda, Yoshihiko, Saito, Akihiko, Ishiyama, Yushi, Noguchi, Mazumi, Miura, Takaaki, Nakano, Keiko, Hirano, Ryoko, Honda, Ichiro, Kuki, Jun-Ichi, Takanashi, Akihito, Takeuchi, Tatsuya, Fukasawa, Chizuru, Seiwa, Atsuko, Harada, Yusuke, Yachi, Hiroyuki, Higashiyama, Hiroshi, Terashima, Tadayuki, Kumagai, Satoshi, Hada, Yoshiichi, Abe, Etsuko, Miyagi, Yuri, Uchiyama, Atsushi, Fujita, Eri, Imagawa, Yoshiteru, Azuma, Kohei, Hamanaka, Eriko, Koshimizu, Satomi, Mitsuhashi, Takeshi, Mizuguchi, Atsushi, Takata, Noriko, Miyake, Yoshinori, Tsurusaki, Hiroshi, Doi, Mitsuko, Nakashima, Hirotomo, Saitsu, Naomichi, Matsumoto
Publikováno v:
Journal of medical genetics. 58(8)
Variants in the type IV collagen gene (We examinedPathogenicPrenatal observation of ventriculomegaly with comorbid foetal growth restriction should prompt a thorough ultrasound examination and