المؤلفون: Yuki Minamisawa, Mutsumi Sato, Yoshiaki Saito, Fumikazu Takeuchi, Hidehito Miyazaki, Mao Odaka, Ayako Yamamoto, Yoshitaka Oyama, Yoshihiro Watanabe, Saoko Takeshita, Yukitoshi Takahashi

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: Down syndrome, Down syndrome disintegrative disorder, anti-NMDA receptor antibody encephalitis, cytokine, catatonia, Alzheimer's disease, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1200541/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/fd78db5c24c4406ab5cb272554d3dc1d

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: Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Satoko Miyatake, Eriko Koshimizu, Itaru Kushima, Takashi Okada, Mako Morikawa, Yota Uno, Kanako Ishizuka, Kazuhiko Nakamura, Masatsugu Tsujii, Takeo Yoshikawa, Tomoko Toyota, Nobuhiko Okamoto, Yoko Hiraki, Ryota Hashimoto, Yuka Yasuda, Shinji Saitoh, Kei Ohashi, Yasunari Sakai, Shouichi Ohga, Toshiro Hara, Mitsuhiro Kato, Kazuyuki Nakamura, Aiko Ito, Chizuru Seiwa, Emi Shirahata, Hitoshi Osaka, Ayumi Matsumoto, Saoko Takeshita, Jun Tohyama, Tomoko Saikusa, Toyojiro Matsuishi, Takumi Nakamura, Takashi Tsuboi, Tadafumi Kato, Toshifumi Suzuki, Hirotomo Saitsu, Mitsuko Nakashima, Takeshi Mizuguchi, Fumiaki Tanaka, Norio Mori, Norio Ozaki, Naomichi Matsumoto

المصدر: Cell Reports, Vol 22, Iss 3, Pp 734-747 (2018)

مصطلحات موضوعية: ASD, de novo mutations, cerebellum, striatum, ATP2B2, GGNBP2, MCM6, AGO1, ATP1A3, cardiac glycosides, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124717319113; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/e51cd53b5a7e46769a72311ea20870dd

المؤلفون: Yoshitaka Oyama, Yoshiaki Saito, Nozomi Yokota, Ayako Yamamoto, Yoshihiro Watanabe, Saoko Takeshita, Takashi Ohya, Kentaro Shiga, Shuichi Ito

المصدر: Epilepsy & Seizure. 15:42-58

مصطلحات موضوعية: Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e4892c51fc4121af254f0d98271b61fc
https://doi.org/10.3805/eands.15.42

المؤلفون: Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Itaru Kushima, Nobuhiko Okamoto, Kei Ohashi, Kazuhiko Nakamura, Ryota Hashimoto, Yoko Hiraki, Shuraku Son, Mitsuhiro Kato, Yasunari Sakai, Hitoshi Osaka, Kimiko Deguchi, Toyojiro Matsuishi, Saoko Takeshita, Aviva Fattal-Valevski, Nina Ekhilevitch, Jun Tohyama, Patrick Yap, Wee Teik Keng, Hiroshi Kobayashi, Keiyo Takubo, Takashi Okada, Shinji Saitoh, Yuka Yasuda, Toshiya Murai, Kazuyuki Nakamura, Shouichi Ohga, Ayumi Matsumoto, Ken Inoue, Tomoko Saikusa, Tova Hershkovitz, Yu Kobayashi, Mako Morikawa, Aiko Ito, Toshiro Hara, Yota Uno, Chizuru Seiwa, Kanako Ishizuka, Emi Shirahata, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Atsushi Takata, Takeshi Mizuguchi, Norio Ozaki, Naomichi Matsumoto

المصدر: European Journal of Human Genetics.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::71ec89a74b0c85fde5c48c84b7e72d73
https://doi.org/10.1038/s41431-023-01335-7

المؤلفون: Takayoshi Koike, Tetsuhiro Fukuyama, Katsumi Imai, Naoko Ishihara, Shimpei Baba, Yuri Dowa, Kosei Hasegawa, Tohru Okanishi, Taikan Oboshi, Kyoko Takano, Saoko Takeshita, Jun Shibasaki, Tomoyuki Akiyama, Hiroshi Shiraku, Masaya Kubota, Yuki Hyodo, Katsuhiro Kobayashi, Hiroko Shimbo, Shin ichiro Hamano, Toshiyuki Yamamoto

المصدر: Pediatric Neurology. 113:33-41

مصطلحات موضوعية: Male, Vitamin, PLPBP, medicine.medical_specialty, Pyridoxal, Adolescent, Pyridoxal 5′-phosphate homeostasis protein deficiency, PLPHP, Pyridoxine-dependent epilepsy, PROSC, 5-Hydroxytryptophan, Young Adult, 03 medical and health sciences, Epilepsy, chemistry.chemical_compound, 0302 clinical medicine, Cerebrospinal fluid, Developmental Neuroscience, 030225 pediatrics, Internal medicine, medicine, Humans, ALDH7A1, Child, Retrospective Studies, Pipecolic acid, business.industry, Infant, Newborn, Infant, medicine.disease, Vitamin B 6, Monoamine neurotransmitter, Endocrinology, Neurology, chemistry, Child, Preschool, Pipecolic Acids, Pyridoxal Phosphate, Pediatrics, Perinatology and Child Health, Tyrosine, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Homeostasis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d155983bb02bc326ef1940c4f75156bd
https://ousar.lib.okayama-u.ac.jp/61024

المؤلفون: Takatoshi Sato, Yoshihiro Watanabe, Mizue Iai, Saoko Takeshita, Yoshiaki Saito, Yoshitaka Oyama, Keiko Ishigaki, Shuichi Ito, Azusa Ikeda

المصدر: Braindevelopment. 43(3)

مصطلحات موضوعية: Cortisol secretion, Male, medicine.medical_specialty, Adolescent, Fever, Inflammation, Systemic inflammation, Infections, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Developmental Neuroscience, Internal medicine, Fukuyama congenital muscular dystrophy, medicine, Humans, Child, Creatine Kinase, biology, Kinase, business.industry, C-reactive protein, Walker-Warburg Syndrome, General Medicine, medicine.disease, Endocrinology, C-Reactive Protein, Pediatrics, Perinatology and Child Health, biology.protein, Prednisolone, Creatine kinase, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efbbc38a521e46ffa46bd0c859b8a058
https://pubmed.ncbi.nlm.nih.gov/33277141

المؤلفون: Ayako Yamamoto, Saoko Takeshita, Hiroko Ikeda, Yoshitaka Oyama, Ichiro Takumi, Toshiyuki Itai, Azusa Ikeda, Yoshihiro Watanabe, Yoshiaki Saito, Satoko Miyatake, Rumiko Takayama, Naomichi Matsumoto

المصدر: Braindevelopment. 42(8)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Drug Resistant Epilepsy, Mutation, Missense, Electroencephalography, Corpus Callosum, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Developmental Neuroscience, Channelopathy, medicine, Humans, KCNQ2 Potassium Channel, Epilepsy surgery, Child, Exome sequencing, Psychomotor learning, medicine.diagnostic_test, business.industry, Valproic Acid, General Medicine, Carbamazepine, medicine.disease, Pediatrics, Perinatology and Child Health, Hypoxia-Ischemia, Brain, Etiology, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c5bb7fd69bedabbf25018908ba90659
https://pubmed.ncbi.nlm.nih.gov/32532640

المؤلفون: Ayumi Matsumoto, Takashi Tsuboi, Takeo Yoshikawa, Ryoko Fukai, Nobuhiko Okamoto, Yasunari Sakai, Takeshi Mizuguchi, Shouichi Ohga, Hitoshi Osaka, Naomichi Matsumoto, Chizuru Seiwa, Kei Ohashi, Saoko Takeshita, Mako Morikawa, Masatsugu Tsujii, Norio Mori, Kazuyuki Nakamura, Mitsuhiro Kato, Shinji Saitoh, Takashi Okada, Eriko Koshimizu, Aiko Ito, Yota Uno, Toshiro Hara, Kanako Ishizuka, Yoko Hiraki, Noriko Miyake, Toshifumi Suzuki, Tomoko Toyota, Kazuhiko Nakamura, Itaru Kushima, Ryota Hashimoto, Toyojiro Matsuishi, Jun Tohyama, Fumiaki Tanaka, Norio Ozaki, Atsushi Takata, Tomoko Saikusa, Takumi Nakamura, Satoko Miyatake, Tadafumi Kato, Emi Shirahata, Yuka Yasuda, Hirotomo Saitsu, Yoshinori Tsurusaki, Mitsuko Nakashima

المصدر: Cell Reports, Vol 22, Iss 3, Pp 734-747 (2018)

مصطلحات موضوعية: 0301 basic medicine, Proband, AGO1, cerebellum, Autism Spectrum Disorder, striatum, de novo mutations, ATP2B2, Computational biology, Biology, behavioral disciplines and activities, ASD, General Biochemistry, Genetics and Molecular Biology, cardiac glycosides, 03 medical and health sciences, mental disorders, medicine, Humans, Genetic Predisposition to Disease, Gene, lcsh:QH301-705.5, De novo mutations, MCM6, Integrative bioinformatics, ATP1A3, medicine.disease, 030104 developmental biology, GGNBP2, lcsh:Biology (General), Autism spectrum disorder, Mutation, Autism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ce89817a82896fbf52b4a1b78966868
http://www.sciencedirect.com/science/article/pii/S2211124717319113

المؤلفون: Satomi Mitsuhashi, Kohei Hamanaka, Rie Miyata, Kazuki Tsukamoto, Tokito Yamaguchi, Satoko Miyatake, Taikan Oboshi, Toshiyuki Itai, Gaku Minase, Tomokazu Kimizu, Masayuki Shimono, Eriko Koshimizu, Takashi Shiihara, Kazuyuki Nakamura, Yasunari Sakai, Jun Tohyama, Masano Amamoto, Shinsaku Yoshitomi, Kazuhiro Iwama, Masayasu Ohta, Futoshi Sekiguchi, Rina Takahashi, Hirotomo Saitsu, Tohru Okanishi, Noriko Miyake, Shin Nabatame, Atsushi Takata, Masaya Kubota, Yohane Miyata, Rumiko Takayama, Naomi Tsuchida, Tomohiro Sakaguchi, Kouhei Den, Mizue Iai, Takeshi Mizuguchi, Tomohide Goto, Yukitoshi Takahashi, Shinichi Hirabayashi, Ken Saida, Yuri Uchiyama, Eri Imagawa, Hiroshi Matsumoto, Hirofumi Kashii, Katsumi Imai, Nobuhiko Okamoto, Kaori Aiba, Hitoshi Osaka, Mitsuhiro Kato, Hiromi Aoi, Saoko Takeshita, Yu Kobayashi, Ryutaro Kira, Naomichi Matsumoto, Ichiro Kuki, Mitsuko Nakashima, Munetsugu Hara, Kazuhiro Haginoya, Chihiro Ohba, Jun Matsui, Jun-ichi Takanashi, Atsushi Fujita, Kenji Yokochi, Masayuki Sasaki, Shimpei Baba, Hiroko Ikeda

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

مصطلحات موضوعية: 0301 basic medicine, Genetics of the nervous system, General Physics and Astronomy, Epilepsies, Myoclonic, 02 engineering and technology, medicine.disease_cause, Japan, Polymorphism (computer science), Guanine Nucleotide Exchange Factors, DNA (Cytosine-5-)-Methyltransferases, lcsh:Science, Exome sequencing, Genetics, Principal Component Analysis, Mutation, Neurofibromin 1, Multidisciplinary, Disease genetics, 021001 nanoscience & nanotechnology, symbols, 0210 nano-technology, Spasms, Infantile, Science, TRPM Cation Channels, Biology, Polymorphism, Single Nucleotide, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, symbols.namesake, Asian People, Exome Sequencing, Genetic variation, medicine, Humans, Gene, Epilepsy, Lennox Gastaut Syndrome, Case-control study, Genetic Variation, Infant, General Chemistry, Genetic architecture, Adaptor Proteins, Vesicular Transport, Logistic Models, 030104 developmental biology, Case-Control Studies, Next-generation sequencing, Mendelian inheritance, lcsh:Q

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b583ee6b60c079588be46adcfa8fed34
https://doi.org/10.1038/s41467-019-10482-9