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1دورية أكاديمية
المؤلفون: Syun Yoshida, Masano Amamoto, Tomoyuki Takahashi, Ichiro Tomita, Kotaro Yuge, Munetsugu Hara, Kazuhiro Iwama, Naomichi Matsumoto, Toyojiro Matsuishi
المصدر: Clinical Case Reports, Vol 10, Iss 5, Pp n/a-n/a (2022)
مصطلحات موضوعية: AMPA receptor, intractable epilepsy, perampanel, Rett‐like disorder, STXBP1 mutation, West syndrome, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2050-0904
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2دورية أكاديمية
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
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3
المؤلفون: Takashi Kinoshita, Munetsugu Hara, Yuki Nakamura, Toyojiro Matsuishi, Tomoyuki Takahashi, Yushiro Yamashita, Satoko Okayama, Takayuki Taniwaki, Masaki Okamoto, Kei-ichiro Nakamura, Ken-ichiro Kosai, Hiroshi Kida
المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-13 (2017)
Scientific Reportsمصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Mice, 129 Strain, Methyl-CpG-Binding Protein 2, Gene Expression, lcsh:Medicine, Rett syndrome, Substance P, Aspiration pneumonia, Lung injury, Bioinformatics, Article, Pulmonary function testing, MECP2, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, mental disorders, Rett Syndrome, medicine, Animals, Humans, lcsh:Science, Lung, Mice, Knockout, Multidisciplinary, business.industry, Respiration, lcsh:R, Respiratory infection, Pneumonia, Respiration Disorders, medicine.disease, nervous system diseases, Mice, Inbred C57BL, Survival Rate, 030104 developmental biology, medicine.anatomical_structure, Female, lcsh:Q, business, 030217 neurology & neurosurgery, Brain Stem
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4
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 Communicationsمصطلحات 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
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5
المؤلفون: Hirotomo Saitsu, Toyojiro Matsuishi, Yushiro Yamashita, Chihiro Ohba, Munetsugu Hara, Naomichi Matsumoto
المصدر: American Journal of Medical Genetics Part A. 167:1593-1596
مصطلحات موضوعية: Adult, congenital, hereditary, and neonatal diseases and abnormalities, Molecular Sequence Data, CDKL5, Nerve Tissue Proteins, Rett syndrome, Biology, Bioinformatics, medicine.disease_cause, MECP2, Frameshift mutation, Neurodevelopmental disorder, Intellectual disability, Rett Syndrome, Genetics, medicine, Humans, Exome, Genetics (clinical), Mutation, Base Sequence, Sequence Analysis, DNA, medicine.disease, FOXG1, Phenotype, Female, Multiplex Polymerase Chain Reaction
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6
المؤلفون: Kenji Suda, Hirotomo Saitsu, Shin Okazaki, Yosuke Murakami, Yuki Kawasaki, Naomichi Matsumoto, Yoriko Watanabe, Shintaro Kishimoto, Munetsugu Hara, Hisashi Kawawaki, Ichiro Kuki, Eiji Ehara
المصدر: The Journal of pediatrics. 191
مصطلحات موضوعية: 0301 basic medicine, Genetic Markers, Male, medicine.medical_specialty, Potassium Channels, Collateral Circulation, Nerve Tissue Proteins, Infantile epilepsy, Potassium Channels, Sodium-Activated, Pulmonary Artery, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Fatal Outcome, Internal medicine, medicine, Humans, partial seizures, business.industry, Infant, Newborn, medicine.disease, Potassium channel, 030104 developmental biology, Heart failure, Anesthesia, Gain of Function Mutation, Pediatrics, Perinatology and Child Health, Cardiology, Female, Epilepsies, Partial, business, 030217 neurology & neurosurgery
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7
المؤلفون: Kotaro Yuge, Nobuhiko Okamoto, Tadashi Hisano, Yushiro Yamashita, Tomoko Saikusa, Munetsugu Hara, Junichiro Okada, Chihiro Ohba, Naomichi Matsumoto, Kazuhiro Iwama, Toyojiro Matsuishi, Hirotomo Saitsu
المصدر: Braindevelopment. 40(5)
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Heterozygote, Cornelia de Lange Syndrome, Histone Deacetylases, 03 medical and health sciences, Epilepsy, symbols.namesake, Developmental Neuroscience, Japan, De Lange Syndrome, Exome Sequencing, medicine, Rett Syndrome, Missense mutation, Humans, Abnormalities, Multiple, Hypertelorism, Truncal obesity, Child, Skewed X-inactivation, Exome sequencing, Alleles, Sanger sequencing, business.industry, General Medicine, medicine.disease, Pedigree, Repressor Proteins, 030104 developmental biology, Phenotype, Pediatrics, Perinatology and Child Health, Mutation, symbols, Female, Neurology (clinical), medicine.symptom, business
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8
المؤلفون: Ikuhiko Shibuya, Hayato Kaida, Yushiro Yamashita, Masatoshi Ishibashi, Seiji Kurata, Takashi Ohya, Munetsugu Hara, Toyojiro Matsuishi, Shinichiro Nagamitsu
المصدر: European Journal of Paediatric Neurology. 18:536-539
مصطلحات موضوعية: medicine.medical_specialty, Pathology, Combination therapy, business.industry, Ribavirin, Alpha interferon, General Medicine, medicine.disease, Gastroenterology, Subacute sclerosing panencephalitis, chemistry.chemical_compound, medicine.anatomical_structure, chemistry, Cerebral cortex, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Stage (cooking), 18fdg pet, business, Progressive disease
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المؤلفون: Munetsugu Hara, Toyojiro Matsuishi, Shinichiro Nagamitsu, Ikuhiko Shibuya, Takashi Ohya, Yuko Araki, Yushiro Yamashita, Takuto Yamashita, Tatsuyuki Kakuma, Chiho Iizuka
المصدر: Brain and Development. 32:609-612
مصطلحات موضوعية: Male, Social characteristics, General Medicine, Strengths and Difficulties Questionnaire, medicine.disease, Parent ratings, Developmental psychology, High-functioning autism, Developmental Neuroscience, Prosocial behavior, Attention Deficit Disorder with Hyperactivity, Child Development Disorders, Pervasive, Autism spectrum disorder, Surveys and Questionnaires, Pediatrics, Perinatology and Child Health, medicine, Humans, Attention deficit hyperactivity disorder, Spectrum disorder, Neurology (clinical), Child, Psychology, Clinical psychology
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10
المؤلفون: Chihiro Ohba, Reimi Tsurusawa, Reina Ogata, Noriko Miyake, Yoriko Watanabe, Mitsuhiro Kato, Hitoshi Osaka, Fumiaki Tanaka, Takahito Inoue, Yuji Fujii, Jun Tohyama, Hirofumi Kodera, Hirotomo Saitsu, Junji Azuma, Shin Nabatame, Nobuya Takahashi, Takashi Shiihara, Yoshinori Tsurusaki, Mitsuko Nakashima, Naomichi Matsumoto, Munetsugu Hara, Noriko Togashi
المصدر: Epilepsia. 56(9)
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Ohtahara syndrome, Potassium Channels, Period (gene), DNA Mutational Analysis, Autosomal dominant nocturnal frontal lobe epilepsy, Nerve Tissue Proteins, Biology, Potassium Channels, Sodium-Activated, medicine.disease_cause, Epilepsy, medicine, Humans, Child, Early onset, Mutation, Brain, Infant, West Syndrome, Electroencephalography, medicine.disease, Phenotype, Magnetic Resonance Imaging, Neurology, Child, Preschool, Neurology (clinical), Spasms, Infantile