المؤلفون: Masashi Ogasawara, Nobuyuki Eura, Aritoshi Iida, Theerawat Kumutpongpanich, Narihiro Minami, Ikuya Nonaka, Shinichiro Hayashi, Satoru Noguchi, Ichizo Nishino

المصدر: Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-7 (2022)

مصطلحات موضوعية: Oculopharyngodistal myopathy, LRP12, GIPC1, NOTCH2NLC, CGG repeat expansion, Oculopharyngeal muscular dystrophy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/bf430c0312ca4de89b480b931a09d9f1

المؤلفون: Satoru Noguchi, Megumu Ogawa, May Christine Malicdan, Ikuya Nonaka, Ichizo Nishino

المصدر: EBioMedicine, Vol 15, Iss C, Pp 193-202 (2017)

مصطلحات موضوعية: Collagen, Fibrosis, IGF-1, Mesenchymal, Mouse, Muscular dystrophy, Skeletal muscles, Weakness, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396416305904; https://doaj.org/toc/2352-3964

URL الوصول: https://doaj.org/article/30f04914c83b467a90a0165348adfe10

المؤلفون: Yuka Hama, Madoka Mori-Yoshimura, Kazutaka Aizawa, Yasushi Oya, Hisayoshi Nakamura, Michio Inoue, Aritoshi Iida, Noriko Sato, Ikuya Nonaka, Ichizo Nishino, Yuji Takahashi

المصدر: Neuromuscular Disorders. 32:516-520

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1ff543a2b368ad633fc1eb8b9d68ccf0
https://doi.org/10.1016/j.nmd.2022.02.010

المؤلفون: Masashi Ogasawara, Nobuyuki Eura, Aritoshi Iida, Theerawat Kumutpongpanich, Narihiro Minami, Ikuya Nonaka, Shinichiro Hayashi, Satoru Noguchi, Ichizo Nishino

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::51933f8c25361cfea9601660ddae5205
https://doi.org/10.1101/2022.04.25.22274179

المؤلفون: Kazuma Sugie, Hirofumi Komaki, Nobuyuki Eura, Tomo Shiota, Kenji Onoue, Hiroyasu Tsukaguchi, Narihiro Minami, Megumu Ogawa, Takao Kiriyama, Hiroshi Kataoka, Yoshihiko Saito, Ikuya Nonaka, Ichizo Nishino

المصدر: International Journal of Molecular Sciences, Vol 19, Iss 11, p 3507 (2018)

مصطلحات موضوعية: Danon disease, lysosome-associated membrane protein-2 (LAMP-2), hypertrophic cardiomyopathy, myopathy, autophagy, heart transplantation, cerebral infarction, autophagic vacuoles with sarcolemmal features (AVSF), Wolf–Parkinson–White (WPW) syndrome, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/19/11/3507; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/742fb0dcd0274ccc803e63edd9982cb5

المؤلفون: Harumasa Nakamura, Yuh-Jyh Jong, Raymond L. Rosales, Fumi Takeuchi, Andrew J. Kornberg, Sara Khan, Ichizo Nishino, Ikuya Nonaka, Josiah Chai, Ohnmar Ohnmar, Naohiro Yonemoto, Kum Thong Wong, Dingguo Shen, Sophelia H. S. Chan, Dae-Seong Kim, Shin'ichi Takeda, Allan H. Bretag, Charungthai Dejthevaporn, Hirofumi Komaki, Khean Jin Goh, Satish V Khadilkar

المساهمون: Takeuchi, Fumi, Nakamura, Harumasa, Yonemoto, Naohiro, Komaki, Hirofumi, Bretag, Allan H, Nonaka, Ikuya

المصدر: Brain and Development. 42:277-288

مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, China, Pediatrics, medicine.medical_specialty, Neuromuscular disease, Adolescent, Prednisolone, Duchenne muscular dystrophy, Oceania, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Japan, Developmental Neuroscience, Prednisone, Duchenne muscular dytrophy, Epidemiology, medicine, Humans, Practice Patterns, Physicians', Young adult, Child, Societies, Medical, business.industry, care recommendation, Infant, General Medicine, medicine.disease, clinical practice, Muscular Dystrophy, Duchenne, Clinical research, Child, Preschool, Health Care Surveys, Pediatrics, Perinatology and Child Health, Cohort, Steroids, Neurology (clinical), Asian and Oceanian Myology Center, business, 030217 neurology & neurosurgery, Rare disease, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b460774a9ba0fb416b368aade1f81dde
https://doi.org/10.1016/j.braindev.2019.12.005

المؤلفون: Shin'ichi Takeda, Noriko Sato, Sumiko Yoshida, Ichizo Nishino, Kazushi Maruo, Narihiro Minami, Emiko Morimoto, Hirofumi Komaki, Yukiro Mizuno, Ikuya Nonaka, Yuji Takahashi, Madoka Mori-Yoshimura, Masayuki Sekiguchi, Naoko Ishihara

المصدر: Neuromuscular Disorders. 29:930-939

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Developmental Disabilities, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Risk Factors, Pervasive developmental disorder, medicine, Humans, Trait anxiety, Muscular dystrophy, Risk factor, Psychiatry, Genetics (clinical), Aged, business.industry, Mental Disorders, Brain, Bullying, Middle Aged, medicine.disease, Muscular Dystrophy, Duchenne, 030104 developmental biology, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Physical handicap, business, Complication, 030217 neurology & neurosurgery, Schizophrenia spectrum

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9ad193cd7806975f2b70de82e73aa2f
https://doi.org/10.1016/j.nmd.2019.09.006

المؤلفون: Leentje Van Lommel, Ikuya Nonaka, Tsutomu Takahashi, Katsunori Fujii, Masakazu Mimaki, Ichizo Nishino, Michio Inoue, Hirofumi Komaki, Shinichiro Hayashi, Takuya Yoshizawa, Yu-ichi Goto, Satoru Noguchi, Shumpei Uchino, Yukinori Okada, Aritoshi Iida, Eri Takeshita, Frans Schuit

المصدر: Annals of Neurology. 86:193-202

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Cytochrome-c Oxidase Deficiency, Muscle Proteins, Biology, Compound heterozygosity, Electron Transport Complex IV, Mice, 03 medical and health sciences, Fatal Outcome, 0302 clinical medicine, Internal medicine, medicine, Animals, Humans, Amino Acid Sequence, Muscle, Skeletal, Exome sequencing, Mice, Knockout, Facial Muscle Weakness, Genetic Variation, Infant, Skeletal muscle, Muscle weakness, medicine.disease, Congenital myopathy, Hypotonia, Pedigree, Mice, Inbred C57BL, HEK293 Cells, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, Mitochondrial respiratory chain, Neurology, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery, HeLa Cells

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a73f05cddbef1ee2471e55140ff531e2
https://doi.org/10.1002/ana.25517

المؤلفون: Yun Yuan, Zhaoxia Wang, Ikuya Nonaka, Dong Wang, Wei Zhang, Hui Xiong, Lin Ge, Xiaona Fu

المصدر: Neuromuscular Disorders. 29:350-357

مصطلحات موضوعية: 0301 basic medicine, Twins, In Vitro Techniques, Compound heterozygosity, Bioinformatics, Sarcomere, 03 medical and health sciences, 0302 clinical medicine, Humans, Medicine, Connectin, RNA, Messenger, Muscle, Skeletal, Genetics (clinical), Exome sequencing, Ophthalmoplegia, biology, business.industry, Infant, Ryanodine Receptor Calcium Release Channel, medicine.disease, Magnetic Resonance Imaging, Phenotype, Congenital myopathy, Exon skipping, Microscopy, Electron, HEK293 Cells, 030104 developmental biology, Scoliosis, Neurology, Pediatrics, Perinatology and Child Health, biology.protein, Muscle Hypotonia, Female, Titin, RNA Splice Sites, Neurology (clinical), business, 030217 neurology & neurosurgery, Myopathies, Structural, Congenital, Minigene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76afb6c0dc8795f0d79acc7eaa43ba99
https://doi.org/10.1016/j.nmd.2019.03.007

المؤلفون: Pierluigi Martelli, Tom J. de Koning, Takema Kato, Irene Liparulo, Mariko Taniguchi-Ikeda, Tatsushi Toda, Hisayoshi Nakamura, Wilfred F. A. den Dunnen, Giovanna Cenacchi, Sanjiban Chakrabarty, Yu Sheng Yeh, Sushil Kumar Mishra, Rita Casadio, Akira Ohtake, Ichizo Nishino, Roberto De Giorgio, Paolo Picco, Pasquale Striano, Chiara Fiorillo, Isabella Ceccherini, Tsuyoshi Goto, Elisa Boschetti, Makiko Tsutsumi, Eleonora Aronica, Georgios Kellaris, Mariel Alders, Gabor E. Linthorst, Jantima Tanboon, Angela Rita Sementa, Floor A. M. Duijkers, Yu Ichi Goto, Hiroki Kurahashi, Masakazu Mimaki, Gerard Dijkstra, Dik C. van Gent, Mariasavina Severino, Yoshinobu Oyazato, Christian Bergamini, Ikuya Nonaka, Yoshiki Yamaguchi, Ivana Matera, Giuseppe Raiola, Karin Van Spaendonck, Nicholas Katsanis, Luca Masin, Shumpei Uchino, Kenjiro Kosaki, Sara Signa, Anja Raams, Federica Isidori, Elena Bonora, Serena Arrigo, Kandai Nozu, Marc Engelen, Farid Ullah, Ichiro Morioka, Chiara Diquigiovanni, Marco Seri, Valerio Carelli, Francesca Bianco, Mariapia Giuditta Cratere, Nicola Rizzardi, Romana Fato, Alessandra Maresca, Alyson W. MacInnes, Valentina Papa, Kazumoto Iijima

المساهمون: Movement Disorder (MD), Molecular Neuroscience and Ageing Research (MOLAR), Groningen Institute for Organ Transplantation (GIOT), Translational Immunology Groningen (TRIGR), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Human Genetics, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, Neurology, Paediatric Neurology, ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Endocrinology, Pathology, Bonora, Elena, Chakrabarty, Sanjiban, Kellaris, Georgio, Tsutsumi, Makiko, Bianco, Francesca, Bergamini, Christian, Ullah, Farid, Isidori, Federica, Liparulo, Irene, Diquigiovanni, Chiara, Masin, Luca, Rizzardi, Nicola, Cratere, Mariapia Giuditta, Boschetti, Elisa, Papa, Valentina, Maresca, Alessandra, Cenacchi, Giovanna, Casadio, Rita, Martelli, Pierluigi, Matera, Ivana, Ceccherini, Isabella, Fato, Romana, Raiola, Giuseppe, Arrigo, Serena, Signa, Sara, Sementa, Angela Rita, Severino, Mariasavina, Striano, Pasquale, Fiorillo, Chiara, Goto, Tsuyoshi, Uchino, Shumpei, Oyazato, Yoshinobu, Nakamura, Hisayoshi, Mishra, Sushil K, Yeh, Yu-Sheng, Kato, Takema, Nozu, Kandai, Tanboon, Jantima, Morioka, Ichiro, Nishino, Ichizo, Toda, Tatsushi, Goto, Yu-Ichi, Ohtake, Akira, Kosaki, Kenjiro, Yamaguchi, Yoshiki, Nonaka, Ikuya, Iijima, Kazumoto, Mimaki, Masakazu, Kurahashi, Hiroki, Raams, Anja, MacInnes, Alyson, Alders, Mariel, Engelen, Marc, Linthorst, Gabor, de Koning, Tom, den Dunnen, Wilfred, Dijkstra, Gerard, van Spaendonck, Karin, van Gent, Dik C, Aronica, Eleonora M, Picco, Paolo, Carelli, Valerio, Seri, Marco, Katsanis, Nichola, Duijkers, Floor A M, Taniguchi-Ikeda, Mariko, De Giorgio, Roberto, Molecular Genetics

المصدر: Brain : a Journal of Neurology, 144(5), 1451-1466. Oxford University Press
Brain, 144(5), 1451-1466. Oxford University Press

مصطلحات موضوعية: Male, 0301 basic medicine, Mitochondrial DNA, Gastrointestinal Disease, Mitochondrial disease, LIG3, mtDNA replication, mtDNA repair, MNGIE, CIPO, LIG3, Biology, Mitochondrion, CIPO, MNGIE, mtDNA repair, mtDNA replication, LS3_11, Mitochondrial Encephalomyopathie, NO, DNA Ligase ATP, 03 medical and health sciences, 0302 clinical medicine, SDG 3 - Good Health and Well-being, LS5_1, LS4_1, medicine, LS2_6, Ligase activity, LS5_2, Poly-ADP-Ribose Binding Protein, Zebrafish, Exome sequencing, Mitochondrial Encephalomyopathies, Animal, medicine.disease, Molecular biology, Pedigree, 030104 developmental biology, Mitochondrial DNA repair, 030220 oncology & carcinogenesis, Mutation, Female, Neurology (clinical), Gastrointestinal Motility, Human

وصف الملف: application/pdf; ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e470f830e056717e954489f79a11efb4
http://hdl.handle.net/11567/1065221