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1دورية 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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المؤلفون: Masamune Sakamoto, Kazuhiro Iwama, Masayuki Sasaki, Akihiko Ishiyama, Hirofumi Komaki, Takashi Saito, Eri Takeshita, Yuko Shimizu-Motohashi, Kazuhiro Haginoya, Tomoko Kobayashi, Tomohide Goto, Yu Tsuyusaki, Mizue Iai, Kenji Kurosawa, Hitoshi Osaka, Jun Tohyama, Yu Kobayashi, Nobuhiko Okamoto, Yume Suzuki, Satoko Kumada, Kenji Inoue, Hideaki Mashimo, Atsuko Arisaka, Ichiro Kuki, Harumi Saijo, Kenji Yokochi, Mitsuhiro Kato, Yuji Inaba, Yuko Gomi, Shinji Saitoh, Kentaro Shirai, Masafumi Morimoto, Yuishin Izumi, Yoriko Watanabe, Shin-ichiro Nagamitsu, Yasunari Sakai, Shinobu Fukumura, Kazuhiro Muramatsu, Tomomi Ogata, Keitaro Yamada, Keiko Ishigaki, Kyoko Hirasawa, Konomi Shimoda, Manami Akasaka, Kosuke Kohashi, Takafumi Sakakibara, Masashi Ikuno, Noriko Sugino, Takahiro Yonekawa, Semra Gürsoy, Tayfun Cinleti, Chong Ae Kim, Keng Wee Teik, Chan Mei Yan, Muzhirah Haniffa, Chihiro Ohba, Shuuichi Ito, Hirotomo Saitsu, Ken Saida, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Noriko Miyake, Naomichi Matsumoto
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 24(12)
مصطلحات موضوعية: Mutation, Humans, Kinesins, Exome, Folate Receptor 1, Atrophy, Child, Nervous System Malformations, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2de0565eb6ff84cd751bf7022649d2bd
https://pubmed.ncbi.nlm.nih.gov/36305856 -
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المؤلفون: Dana Marafi, Nina Kozar, Ruizhi Duan, Stephen Bradley, Kenji Yokochi, Fuad Al Mutairi, Nebal Waill Saadi, Sandra Whalen, Theresa Brunet, Urania Kotzaeridou, Daniela Choukair, Boris Keren, Caroline Nava, Mitsuhiro Kato, Hiroshi Arai, Tawfiq Froukh, Eissa Ali Faqeih, Ali M. AlAsmari, Mohammed M. Saleh, Filippo Pinto e Vairo, Pavel N. Pichurin, Eric W. Klee, Christopher T. Schmitz, Christopher M. Grochowski, Tadahiro Mitani, Isabella Herman, Daniel G. Calame, Jawid M. Fatih, Haowei Du, Zeynep Coban-Akdemir, Davut Pehlivan, Shalini N. Jhangiani, Richard A. Gibbs, Satoko Miyatake, Naomichi Matsumoto, Laura J. Wagstaff, Jennifer E. Posey, James R. Lupski, Dies Meijer, Matias Wagner
المصدر: Am J Hum Genet
Marafi, D, Kozar, N, Duan, R, Bradley, S, Yokochi, K, Al Mutairi, F, Waill Saadi, N, Whalen, S, Brune, T, Kotzaeridou, U, Choukair, D, Keren, B, Nava, C, Kato, M, Arai, H, Froukh, T, Faqeih, E A, AlAsmari, A M, Saleh, M M, Vairo, F P E, Pichurin, P N, Klee, E W, Schmitz, C T, Grochowski, C M, Mitani, T, Herman, I, Calame, D, Faith, J M, Du, H, Coban-Akdemir, Z, Pehlivan, D, Jhangiani, S N, Gibbs, R A, Miyatake, S, Matsumoto, N, Wagstaff, L J, Posey, J E, Lupski, J R, Meijer, D & Wagner, M 2022, ' A reverse Genetics and Genomics Approach to Gene Paralog Function and Disease : Myokymia and The Juxtaparanode ', American Journal of Human Genetics, vol. 109 . https://doi.org/10.1016/j.ajhg.2022.07.006
Am. J. Hum. Genet. 109, 1713-1723 (2022)مصطلحات موضوعية: gene and genome instability, facial myokymia, Nerve Tissue Proteins, peripheral nerve hyperexcitability syndromes, Kcna, Lgi3, Bi-allelic Variation, Facial Myokymia, Gene And Genome Instability, Genomic Rearrangement, Multi-exonic Cnv, Neurobiology Of Disease, Peripheral Nerve Hyperexcitability Syndromes, Potassium Channel Complexes, Mice, Report, Genetics, Animals, Humans, Myokymia, Genetics (clinical), potassium channel complexes, neurobiology of disease, Autoantibodies, Mammals, KCNA, Intracellular Signaling Peptides and Proteins, Genomics, Axons, Reverse Genetics, multi-exonic CNV, Phenotype, genomic rearrangement, bi-allelic variation, LGI3
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37caee5177da2f52c5e1a52549031f22
https://pubmed.ncbi.nlm.nih.gov/35948005 -
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المؤلفون: Norihisa Koyama, Martin C. Frith, Satoko Miyatake, Hirotomo Saitsu, Masataka Taguri, Sacha Schneeberger, Kazuhiro Ogata, Noriko Miyake, Hiroshi Doi, Satomi Mitsuhashi, Atsushi Takata, Naomichi Matsumoto, Mai Satoh, Eri Imagawa, Fumiaki Tanaka, Thierry Hennet, Keita Takahashi, Mitsuko Nakashima, Yasuko Tomono, Harushi Mori, Atsushi Fujita, Yuri Uchiyama, Hideyuki Takeuchi, Kenji Yokochi, Eriko Koshimizu, Kayo Ohmura, Takeshi Mizuguchi, Masaaki Shiina
المصدر: Annals of Neurology. 84:843-853
مصطلحات موضوعية: 0301 basic medicine, Mutant, Wild type, Biology, Molecular biology, Extracellular matrix, Blot, 03 medical and health sciences, Type IV collagen, 030104 developmental biology, 0302 clinical medicine, Neurology, RNA interference, Neurology (clinical), Gene, 030217 neurology & neurosurgery, Exome sequencing
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المؤلفون: Shigeaki Nonoyama, Satoko Miyatake, Hazrat Belal, Naomichi Matsumoto, Noriko Miyake, Takeshi Mizuguchi, Hiroshi Matsumoto, Hirotomo Saitsu, Hiroaki Nagase, Mitsuko Nakashima, Kazushi Aoto, Mariko Taniguchi-Ikeda, Azusa Maruyama, Kenji Yokochi, Mohammed Badrul Amin, Kazumoto Iijima
المصدر: Human Mutation. 39:1070-1075
مصطلحات موضوعية: Adult, Male, rho GTP-Binding Proteins, 0301 basic medicine, Adolescent, Mutant, GTPase, Status epilepticus, Biology, Young Adult, 03 medical and health sciences, 0302 clinical medicine, GTP-Binding Proteins, Genetics, medicine, GTPase Gene, Humans, Child, Genetics (clinical), Exome sequencing, Epilepsy, medicine.diagnostic_test, Tumor Suppressor Proteins, Epileptic encephalopathy, Infant, Magnetic resonance imaging, Molecular biology, 030104 developmental biology, Child, Preschool, Ubiquitin ligase complex, Female, medicine.symptom, 030217 neurology & neurosurgery
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المؤلفون: Takeshi Mizuguchi, Tally Lerman-Sagie, Mitsuko Nakashima, Kohei Hamanaka, Satoko Miyatake, Eri Imagawa, Luba Blumkin, Noriko Miyake, Atsushi Fujita, Satomi Mitsuhashi, Ayelet Zerem, Dorit Lev, Naomichi Matsumoto, Atsushi Takata, Hirotomo Saitsu, Kazuhiro Iwama, Kenji Yokochi, Marjo S. van der Knaap
المساهمون: Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Reproduction & Development (AR&D)
المصدر: Journal of human genetics, 63(12), 1223-1229. Nature Publishing Group
Hamanaka, K, Miyatake, S, Zerem, A, Lev, D, Blumkin, L, Yokochi, K, Fujita, A, Imagawa, E, Iwama, K, Nakashima, M, Mitsuhashi, S, Mizuguchi, T, Takata, A, Miyake, N, Saitsu, H, van der Knaap, M S, Lerman-Sagie, T & Matsumoto, N 2018, ' Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic ', Journal of human genetics, vol. 63, no. 12, pp. 1223-1229 . https://doi.org/10.1038/s10038-018-0516-xمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Mitochondrial disease, Compound heterozygosity, Asymptomatic, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Genetics, Humans, Medicine, Missense mutation, Genetics (clinical), business.industry, Leukodystrophy, medicine.disease, Hereditary Central Nervous System Demyelinating Diseases, Phenotype, 030104 developmental biology, Mutation, Female, medicine.symptom, Carrier Proteins, business, Spastic quadriplegia, Developmental regression, 030217 neurology & neurosurgery
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المؤلفون: Mari Sugimoto, Yasushi Okazaki, Shinji Saitoh, Akira Ohtake, Kei Murayama, Kaori Aiba, Yukiko Yatsuka, Yuji Nakamura, Kenji Yokochi
المصدر: European Journal of Medical Genetics. 64:104251
مصطلحات موضوعية: Male, X-linked Nuclear Protein, Mitochondrial disease, medicine.disease_cause, Chromatin remodeling, alpha-Thalassemia, Intellectual disability, Genetics, Humans, Medicine, Gene, Cells, Cultured, Genetics (clinical), ATRX, Mutation, Electron Transport Complex I, business.industry, General Medicine, Fibroblasts, medicine.disease, Phenotype, Mitochondrial respiratory chain, Child, Preschool, Mental Retardation, X-Linked, Cancer research, business
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المؤلفون: Seiji Watanabe, Kenji Yokochi, Nobuaki Wakamatsu, Yasuyo Suzuki, Kenji Kurosawa, Kaoru Suzuki, Daisuke Fukushi, Kenichiro Yamada
المصدر: American Journal of Medical Genetics Part A. 173:2201-2209
مصطلحات موضوعية: Cri-du-Chat Syndrome, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Monosomy, Pediatrics, medicine.medical_specialty, Trisomy, Chromosomal translocation, 030105 genetics & heredity, Translocation, Genetic, Encephalocele, 03 medical and health sciences, Anencephaly, Genetics, medicine, Humans, Neural Tube Defects, Child, Spinal Dysraphism, Genetics (clinical), Spina bifida, business.industry, Siblings, Breakpoint, Neural tube, medicine.disease, Magnetic Resonance Imaging, nervous system diseases, medicine.anatomical_structure, Child, Preschool, Chromosomes, Human, Pair 2, Chromosomes, Human, Pair 5, Female, business
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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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10The Persistent Generalized Muscle Contraction in Siblings with Molybdenum Cofactor Deficiency Type A
المؤلفون: Tetsuya Kibe, Satoko Miyatake, Kenji Yokochi, Hiroshi Hasegawa, Naomichi Matsumoto, Kimiyoshi Ichida, Eriko Koshimizu, Ayumi Yoshimura
المصدر: Neuropediatrics. 50(2)
مصطلحات موضوعية: 0301 basic medicine, Adult, Pathology, medicine.medical_specialty, Caudate nucleus, 030105 genetics & heredity, 03 medical and health sciences, Young Adult, 0302 clinical medicine, medicine, Humans, Molybdenum cofactor deficiency, Genetic testing, Metal Metabolism, Inborn Errors, Metal metabolism, medicine.diagnostic_test, business.industry, Putamen, Siblings, General Medicine, medicine.disease, Status dystonicus, Globus pallidus, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Differential diagnosis, business, 030217 neurology & neurosurgery, Muscle Contraction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::587e455b2f2a572407e9eec88d1e953a
https://pubmed.ncbi.nlm.nih.gov/30695801
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