المؤلفون: 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

المصدر: Epilepsia Open, Vol 5, Iss 3, Pp 442-450 (2020)

مصطلحات موضوعية: comorbidity, Doose syndrome, HNRNPU, SLC6A1, STS, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2470-9239

URL الوصول: https://doaj.org/article/17efe75a57e94761b422dbd148928d15

المؤلفون: 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

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/16a9920cc8234e80bb6236676c9ac817

المؤلفون: 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

المصدر: Frontiers in Neurology, Vol 11 (2020)

مصطلحات موضوعية: ataxia, motor control, cerebellar degeneration, SARA, ICARS, depth sensor, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2020.00179/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/4f383c6b4f024d8b999cb47dcc17301b

المؤلفون: Satoru Ochiai, Itaru Hayakawa, Eri Ohashi, Sho Hamano, Yohane Miyata, Hiroshi Sakuma, Keita Hogetsu, Yoshihiro Gocho, Masao Ogura, Toru Uchiyama, Yuichi Abe

المصدر: Brain and Development. 44:630-634

مصطلحات موضوعية: Developmental Neuroscience, Pediatrics, Perinatology and Child Health, Neurology (clinical), General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::341c6650ce29c58ae8323454136aaf48
https://doi.org/10.1016/j.braindev.2022.06.004

المؤلفون: Chika Shigeyasu, Masakazu Yamada, Yohane Miyata, Yuri Uchiyama, Naomichi Matsumoto, Yumi Kusumi, Atsushi Shiraishi

المصدر: Cornea.

مصطلحات موضوعية: Ophthalmology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::98cf9f71851c4f0f6b49c1f483e7af74
https://doi.org/10.1097/ico.0000000000003281

المؤلفون: Ayumi Ogihara, Yohane Miyata, Akira Hosaki, Masami Narita, Kunimasa Yan

المصدر: Pediatrics International. 64

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, East Asian People, Humans, Child, Systemic Inflammatory Response Syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39e4e314cb7f1453efb55cc004e7fdbc
https://doi.org/10.1111/ped.14869

المؤلفون: 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

المصدر: Journal of Medical Genetics. 58:505-513

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Neurology, Obstetrics, business.industry, Gestational age, medicine.disease, Posterior fossa abnormalities, Porencephaly, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Obstetrics and gynaecology, Schizencephaly, Genetics, medicine, Gestation, business, 030217 neurology & neurosurgery, Genetics (clinical), Ventriculomegaly

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f2dd2760375d155949c433d65a592c68
https://doi.org/10.1136/jmedgenet-2020-106896

المؤلفون: 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

المصدر: Epilepsia Open
Epilepsia Open, Vol 5, Iss 3, Pp 442-450 (2020)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, SLC6A1, business.industry, Genetic heterogeneity, Genetic Status, medicine.disease, STS, Comorbidity, lcsh:RC346-429, comorbidity, Epilepsy, Neurology, HNRNPU, Intellectual disability, Full‐length Original Research, medicine, Etiology, Genetic predisposition, Missense mutation, Neurology (clinical), business, lcsh:Neurology. Diseases of the nervous system, Doose syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56692dc96e04da3882f5b505f74b2262
https://doi.org/10.1002/epi4.12417

المؤلفون: 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

المصدر: Pediatric Neurology. 100:60-66

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Adolescent, Drug-Related Side Effects and Adverse Reactions, Adrenal Gland Diseases, Telangiectases, Malignancy, Betamethasone, Ataxia Telangiectasia, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Quality of life, 030225 pediatrics, Outcome Assessment, Health Care, medicine, Humans, Longitudinal Studies, Child, Adverse effect, Glucocorticoids, Cerebellar ataxia, business.industry, Low dose, Peripheral Nervous System Diseases, medicine.disease, Neurology, Pediatrics, Perinatology and Child Health, Ataxia-telangiectasia, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08dd81446173a50f11e57195da660862
https://doi.org/10.1016/j.pediatrneurol.2019.05.006

المؤلفون: Fusako Yokochi, Yohane Miyata, Makoto Taniguchi, Naomichi Matsumoto, Shumpei Uchino, Satoko Miyatake, Satoko Kumada, Kohei Hamanaka

المصدر: Neurology and Clinical Neuroscience. 8:36-38

مصطلحات موضوعية: Dystonia, Globus pallidus, Deep brain stimulation, Neurology, business.industry, medicine.medical_treatment, Medicine, Neurology (clinical), medicine.symptom, business, medicine.disease, Neuroscience, Asterixis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::93e8d45c0bfc16fee96a73254cefba5a
https://doi.org/10.1111/ncn3.12334