المؤلفون: M. Shichiji, Aya Matsuo, Satoru Nagata, Michiru Adachi, Terumi Murakami, Masaya Zushi, Megumi Hirose, K. Ishiguro, Keisuke Goto, Takatoshi Sato, Keiko Ishigaki, Makiko Osawa, Izumi Kondo, Tetsuo Ikai

المصدر: Brain and Development. 42:383-388

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Motor Activity, Severity of Illness Index, Motor function, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Developmental Neuroscience, Fukuyama congenital muscular dystrophy, Humans, Medicine, Gross motor function, Child, Rasch model, business.industry, Walker-Warburg Syndrome, General Medicine, medicine.disease, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a66f32d4fea5bf2e6f98639e99452631
https://doi.org/10.1016/j.braindev.2020.02.006

المؤلفون: K. Ishiguro, T. Sato, M. Shichiji, Y. Kihara, T. Murakami, S. Nagata, K. Ishigaki

المصدر: Neuromuscular Disorders. 32:S123

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bf0cbbd12e595e82322030ccc467d64b
https://doi.org/10.1016/j.nmd.2022.07.335

المؤلفون: Michiru Adachi, Hisateru Tachimori, S. Nagata, Takatoshi Sato, M. Shichiji, K. Ishiguro, Terumi Murakami, Keiko Ishigaki

المصدر: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: Male, genetic structures, Science, Prednisolone, Administration, Oral, Bioinformatics, Article, Medical research, Fukuyama congenital muscular dystrophy, medicine, Humans, Prospective Studies, Child, Multidisciplinary, business.industry, Drug discovery, Cell Membrane, Homozygote, Membrane Proteins, Walker-Warburg Syndrome, medicine.disease, Steroid therapy, Neurology, Motor Skills, Child, Preschool, Medicine, Regression Analysis, Female, Steroids, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97758a2e2a4586aae7b810056be624e7
https://pubmed.ncbi.nlm.nih.gov/35918519

المؤلفون: Makiko Osawa, Ikuko Kato, Keiko Ishigaki, Kayoko Saito, Makoto Funatsuka, Satoru Nagata, M. Shichiji, Terumi Murakami, Takatoshi Sato, K. Ishiguro, Kiyonobu Ishizuka

المصدر: Brain and Development. 41:43-49

مصطلحات موضوعية: Adult, Male, Glycosuria, medicine.medical_specialty, Adolescent, Duchenne muscular dystrophy, Renal function, urologic and male genital diseases, Gastroenterology, Electrocardiography, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Developmental Neuroscience, Internal medicine, Fukuyama congenital muscular dystrophy, Humans, Medicine, Child, Creatinine, biology, business.industry, Infant, Walker-Warburg Syndrome, Fanconi syndrome, General Medicine, medicine.disease, chemistry, Cystatin C, Child, Preschool, Heart failure, Pediatrics, Perinatology and Child Health, biology.protein, Anticonvulsants, Female, Kidney Diseases, Neurology (clinical), medicine.symptom, business, Biomarkers, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53fe9700fe530d100f6190ffb94f5e4d
https://doi.org/10.1016/j.braindev.2018.07.012

المؤلفون: Ryo Chikuchi, Kazuhiro Iwama, Shuichi Ito, Ryuta Tanaka, Hiroya Nishida, Hirokazu Oguni, Shun Nagamine, Hidehiro Shibayama, Akiko Sekine, Satoko Kumada, Naomichi Matsumoto, M. Shichiji, Atsushi Takata, Yoshio Ikeda, Satoko Miyatake, Susumu Ito, Yuichi Oka, Toshiyuki Yamamoto, Hisayoshi Niwa, Noriko Miyake, Takeshi Yoshida, Takeshi Mizuguchi, Mitsuko Nakashima, Tomonari Awaya, Hirotomo Saitsu, Jun-ichi Takanashi

المصدر: Clinical Genetics. 92:180-187

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, Heterozygote, Gastrointestinal bleeding, Pathology, medicine.medical_specialty, Databases, Factual, Telomere-Binding Proteins, medicine.disease_cause, Compound heterozygosity, Leukoencephalopathy, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Leukoencephalopathies, Genetics, medicine, Humans, RNA, Small Nucleolar, Genetic Predisposition to Disease, Central Nervous System Cysts, Gene, Alleles, Genetics (clinical), Sanger sequencing, Mutation, Cysts, business.industry, Brain, Calcinosis, Anatomy, medicine.disease, 030104 developmental biology, symbols, Female, Cerebroretinal microangiopathy with calcifications and cysts, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad93cb720daa08e31f4257ebbe1bff99
https://doi.org/10.1111/cge.12991

المؤلفون: Takatoshi Sato, K. Ishiguro, Terumi Murakami, K. Yuki, N. Taniguchi, Keiko Ishigaki, M. Shichiji, S. Nagata

المصدر: Neuromuscular Disorders. 30:S98-S99

مصطلحات موضوعية: Oncology, medicine.medical_specialty, Neurology, business.industry, Internal medicine, Pediatrics, Perinatology and Child Health, Outcome measures, Medicine, Neurology (clinical), business, SMA, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::78c89d850ddfca935e680249cfd9319e
https://doi.org/10.1016/j.nmd.2020.08.179

المؤلفون: M. Shichiji, Kayoko Saito, K. Ishiguro, Satoru Nagata, Takatoshi Sato, Makiko Osawa, Terumi Murakami, Keiko Ishigaki

المصدر: Brain and Development. 38:324-330

مصطلحات موضوعية: Adult, Male, Respiratory Therapy, medicine.medical_specialty, Pediatrics, Adolescent, medicine.medical_treatment, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Fukuyama congenital muscular dystrophy, medicine, Humans, Respiratory function, Respiratory system, Muscular dystrophy, Child, Walker–Warburg syndrome, Retrospective Studies, Mechanical ventilation, Noninvasive Ventilation, business.industry, Walker-Warburg Syndrome, General Medicine, medicine.disease, Respiration, Artificial, Fukutin, Surgery, 030228 respiratory system, Child, Preschool, Pediatrics, Perinatology and Child Health, Breathing, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e7e589a47ac8a0c2cc984e120f7fa47
https://doi.org/10.1016/j.braindev.2015.08.010

المؤلفون: K. Ishiguro, T. Sato, M. Shichiji, Y. Kihara, T. Murakami, S. Nagata, K. Ishigaki

المصدر: Neuromuscular Disorders. 30:S105

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19e54479c33ea7abe0199ce328817325
https://doi.org/10.1016/j.nmd.2020.08.201

المؤلفون: Hiroto Takada, M. Takahashi, Y. Kihara, Takatoshi Sato, K. Ishiguro, M. Shichiji, Tsuyoshi Matsumura, Keiko Ishigaki, Hirofumi Komaki, Satoshi Kuru

المصدر: Neuromuscular Disorders. 30:S115

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, medicine.disease, Myotonic dystrophy, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a3b9ac867d59ff073225888ed4c5182e
https://doi.org/10.1016/j.nmd.2020.08.236

المؤلفون: Madoka Mori-Yoshimura, Takatoshi Sato, Terumi Murakami, Harumasa Nakamura, H. Kaiya, Makiko Osawa, C. Ihara, Kazushi Maruo, Keiko Ishigaki, M. Shichiji, K. Ishiguro, S. Nagata

المصدر: Neuromuscular Disorders. 29:S167-S168

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Fukuyama congenital muscular dystrophy, medicine, Neurology (clinical), medicine.disease, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b4e6b55195ef9361282de6d4706562a2
https://doi.org/10.1016/j.nmd.2019.06.457

المؤلفون: M. Shichiji, K. Ishiguro, Hiroyuki Awano, Takatoshi Sato, N. Taniguchi, Terumi Murakami, Taku Shirakawa, Masafumi Matsuo, S. Nagata, Keiko Ishigaki

المصدر: Neuromuscular Disorders. 29:S168-S169

مصطلحات موضوعية: Neurology, Fragment (logic), Pediatrics, Perinatology and Child Health, Fukuyama congenital muscular dystrophy, medicine, biology.protein, Titin, Neurology (clinical), Biology, medicine.disease, Molecular biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e164250bb2aa9acd9d35612759c33044
https://doi.org/10.1016/j.nmd.2019.06.461

المؤلفون: Takatoshi Sato, Terumi Murakami, S. Kajino, M. Yoshioka, Yukiko K. Hayashi, S. Nagata, M. Shichiji, Ichizo Nishino, K. Ishiguro, Naomi Hino-Fukuyo, Mariko Okubo, Keiko Ishigaki, Satoshi Kuru, T. Nakayama, Makiko Osawa, Nobuyuki Murakami

المساهمون: Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Tokyo Women's Medical University (TWMU), National Center of Neurology and Psychiatry National Institute of Mental Health (NCNP), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Neuromuscular Disorders
Neuromuscular Disorders, 2018, 28 (10), pp.857-862. ⟨10.1016/j.nmd.2018.07.010⟩

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, [SDV]Life Sciences [q-bio], 030105 genetics & heredity, Biceps, Caveolins, Congenital generalized lipodystrophy, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, PTRF, Muscular Diseases, Caveolin, medicine, Humans, Muscular dystrophy, Myopathy, Child, Muscle, Skeletal, Genetics (clinical), business.industry, Skeletal muscle, medicine.disease, Phenotype, Magnetic Resonance Imaging, medicine.anatomical_structure, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9142e12679fd28057ed5f558bb98b38
https://pubmed.ncbi.nlm.nih.gov/30174172

المؤلفون: K. Ishiguro, T. Nakayama, M. Yoshioka, T. Murakami, S. Kajino, M. Shichiji, T. Sato, N. Fukuyo, S. Kuru, M. Osawa, S. Nagata, M. Okubo, N. Murakami, Y. Hayashi, I. Nishino, K. Ishigaki

المصدر: Neuromuscular Disorders. 29:S110

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b2cfe3705301fefdb896e8f147970b27
https://doi.org/10.1016/j.nmd.2019.06.263

المؤلفون: Takatoshi Sato, M. Shichiji, K. Ishiguro, Keiko Ishigaki, S. Nagata

المصدر: Neuromuscular Disorders. 29:S48

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, medicine.disease, Raising (linguistics), Myotonic dystrophy, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5f0496d2bd91ac670a0707f24c102034
https://doi.org/10.1016/j.nmd.2019.06.053

المؤلفون: Makiko Osawa, M. Shichiji, Toshiyuki Yamamoto, Hirokazu Oguni, Keiko Shimojima, Yasushi Ito, Hidetsugu Nakamu

المصدر: American Journal of Medical Genetics Part A. 161:850-855

مصطلحات موضوعية: Developmental Disabilities, Karyotype, Chromosomal translocation, Biology, Bioinformatics, Translocation, Genetic, Chromosome Breakpoints, Neurodevelopmental disorder, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Obesity, In Situ Hybridization, Fluorescence, Genetics (clinical), Comparative Genomic Hybridization, Pachygyria, Breakpoint, Brain, Facies, medicine.disease, Magnetic Resonance Imaging, DNA-Binding Proteins, Autism spectrum disorder, Child, Preschool, Chromosomes, Human, Pair 2, Chromosomes, Human, Pair 5, Female, Chromosome Deletion, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97d27d82e8b15e5c5a965afb54263ec8
https://doi.org/10.1002/ajmg.a.35768

المؤلفون: S. Richardson, E. Kimber, H. Kim, Diana Castro, H. Johnson, A. C. Tesi Rocha, Matthias Eckenweiler, C. Manzitti, John W. Day, R. De Sanctis, M. Gormley, Mar Tulinius, Mirac Yildirim, C. M. Temucin, M. Gratacos Vinola, S. Matsumaru, F. Weber-Guzman, J. Kitsuwa-Lowe, Lavinia Fanelli, T. Sato, W. C. Virginia, J. H. Hsu, S. Nagata, A. Michoulas, Sally Dunaway, Mariacristina Scoto, R. Shell, R. Laine, D. DiBella, C. King, Jacqueline Montes, Haluk Topaloglu, Maryam Oskoui, Didem Ardicli, K. Rupprich, C. Stella, F. Dorban, Alan C Farrow-Gillespie, S. A. Choi, T. Ikai, W. C. Liang, N. Matsushima, PH Lister, Arnaud Vanlander, N. Rausch, T. T. Duong, Marika Pane, Melissa Gibbons, M. M. Homi, A. K. Kroksmark, B. Andres, Kristin J. Krosschell, S. Patnaik, L. Welsh, Eduardo F. Tizzano, M. Gallardo, Michèle Mayer, Sarada Sakamuri, W. Liew, T. Spain, M. Yang, Kayoko Saito, Edward C. Smith, L. Sanabria, Astrid Pechmann, H. Kaneko, Leslie Nelson, Basil T. Darras, C. Milleson, Janbernd Kirschner, R. Arakawa, Margot Morrison, Y. Kaburagi, P. Dinunzio, C. K.W. Joseph, M. Chadehumbe, Craig M. Zaidman, S. Nicolarsen, Hyung Ik Shin, Alberto Garaventa, James J. Dowling, J. S. Lee, K. Booker, A. Takeshita, D. McElroy, K. Carroll, D. Vens, Y. Chiba, L. Wand, C. Kelly, Luke Smith, H. Shimomura, M. Srour, J. B. Bodensteriner, B. Rippberger, A. Herbert, Eugenio Mercuri, H. Jo, J. Turner, A. Camuto, N. Parziale, J. O'Brien, N. Nelson, E. Serdaroglu, Jong-Hee Chae, V. Tahon, E. Toro Tamargo, L. Weimer, T. Voit, L. W.M. Wendy, J. Rambaud, G. Gilbert, C. Zimmerman, S. Kramer, D. McFall, Jennifer Perez, N. Berthon-Jones, Jessica Taytard, Marco Luigetti, J. Pisco Domingos, R. Van Der Looven, Genevieve D'Souza, C. Berde, E. Roland, M. de Los Angeles Tormos Munoz, J. Zigmont, S. Baily, S. Gilabert, H. Nakatsukasa, S. Trest, Bahadır Konuşkan, H. A. Ferreira Sampaio, Z. John Zhong, G. VanderVeen, V. Allen, C. Aguilar, N. Taniguchi, G. Ordonez, Elizabeth Kichula, F. Shu, M. N. Chui-San, M. Zinn, Anne M. Connolly, Ian R. Woodcock, Ayşe Karaduman, R. Haldenby, K. Hirasawa, F. Munell Casadesus, L.D.M. Peña, Vamshi K. Rao, Allan M. Glanzman, Claudia A. Chiriboga, A. Martinez Bermejo, John F. Brandsema, S. Epinosa Garcia, M. K. Schroth, T. Shibano, Richard Gee, Valeria Ricotti, Y. Ito, Y. Tanaka, S. Arpin, C. S. Yan, L. Schottlaender, Marco Piastra, M. Kauk, Francesco Muntoni, K. Sugimoto, Öznur Yilmaz, K. DeCock, Kathryn Selby, T. Yanagishita, Concetta Palermo, H. W. Chung, B. Taicher, Jiri Vajsar, K. Zilke, R. Gadeken, A. Yamauchi, Marta Bertoli, Nancy L. Kuntz, T. Tachikawa, C. Johnson, A. Mayhew, Jahannaz Dastgir, Y. J. Jong, P. C. Chou, G. Rivera, T. N. Shun, Y. H. Ju, N. Holuba La Marca, M. Toms, Matthew Civitello, Eugene Schneider, C. Lilien, S. Ito, C. Skura, Y. Yvonne, K. O'Reardon, Barry S. Russman, Janet Quigley, J. W. Said, B. Planas Pascual, R. J. Ramamurthi, Wildon Farwell, V. Selby, W. Y. Connie, M. Souris, Nicholas E. Johnson, M. Miki, N. Sponemann, Andrei Constantinescu, K. Mayne, H. H. Shih, B. Sanjanwala, Teresa Gidaro, D. Berry, Gihan Tennekoon, A. G. Le Moing, Danielle Ramsey, C. Poulin, S. Goldman, K. Watson, H. L. Teoh, N. J. Palacios, Tai-Heng Chen, A. C. Chung, Terri Carry, J. Coates, D. Zielinski, R. Vialle, F. G. Yildiz Sarikaya, Marcus Krüger, M. del Mar Garcia Romero, E. Michael, E. D. Austin, J. Janas, K. Engelstad, S. Y. Kim, M. Alavarez Molinero, Leon G. Epstein, Monique M. Ryan, Jean Flickinger, D. Benjamin, S. Wider, C. S. Davis, Jena M. Krueger, I. J.K. Janice, Darryl C. De Vivo, M. del Mar Melendez Plumed, Y. Takeshima, C. Gunbey, Serena Sivo, A. Christiaens, Q. Ollievier, Elizabeth Mirek, D. Stanford, Susan T. Iannaccone, Jonathan E. Kurz, D. Cook, C. S. Ng, A. Koka, V. Chau, M. del Pilar Tirado Requero, M. B. Gomez Garcia de la Banda, E. M. Yiu, Amy Pasternak, Rosangel Cruz, S. So, S. I. Pascual Pascual, V. G. Haliloglu, E. S. Schroers, P. Jachertz, C. Ortiz-Miller, Sandra Coppens, J. Lee, M. Popolizio, Michael Doumit, Rachel Salazar, Michelle A. Farrar, Peter G. Fuhr, M. Pedermonte, L. S. Lord-Halvorson, W. Leon, Y. S. Zeng, L. D'Argenzio, Russell J. Butterfield, C. Blomgren, Erika Finanger, S. Shea, Paola Tacchetti, N. Y. Ki, H. W. Choi, K. Oriyama, S. Wittevrongel, Catherine Siener, K. Mizuochi, M. Cowie, R. Van Coster, E. Gargaun, S. M. Scuplak, Sibylle Vogt, S. Stein, Tim Harrington, P. M. Ingelmo, J. Wootton, M. Tanyildiz, A. F. Rucian, Jonathan Marra, C. Frank Bennett, Claire L Wood, Nicolas Deconinck, Adnan Y. Manzur, Helene Verhelst, B. Purse, P. L. Léger, J. Cappell, S. Aziz-Zaman, H. Y. Wang, Claudio Bruno, S. Garcia Guixot, Robert Muni Lofra, Federica Trucco, S. M. Chun, Catherine E. Roberts, Ulrike Schara, Walter G. Bradley, K. L. De Valle, E. De Vos voor, S. Borell, A. Lim, Sophelia H. S. Chan, L. Rao, M. Shichiji, S. Rooze, T. M. Newcomb, Fouad Al-Ghamdi, Chiara Fiorillo, J. D. Endsley, L. Y. Sigurdardottir, Pallavi Anand, A. Zuffi, Julie A. Parsons, M. Kasper, A. Nishikawa, Sarah Gheuens, S. Turgeon-Desilet, T. Fujino, L. Staudt, Y. C. Wu, Jacinda B. Sampson, Paola Lanteri, Stephanie DeArmey, Partha S. Ghosh, Alexandra C. Ross, L. Adang, Laurent Servais, V. Tran, Alan Bielsky, Y. Otani, Navil F. Sethna, J. Hen, Perry B. Shieh, N. Fukuda, N. Miller, K. Eto, S. Paulose, Niklas Darin, C. Sabapathy, Robert J. Graham, Christopher Proud, Richard S. Finkel, Alexander G. Khandji, A. Della Marina, Adrian Murphy, Kathie M. Bishop, Tejaswi Kandula, Valentina Lanzillotta, Heather Szelag, Kalliopi Sofou, Y. H. Chou, Heike Koelbel, J. Eldblom, T. Lee, M. M. Martinez Moreno, Volker Straub, Laura E. Case, A. Lindstedt, G. Gili, A. Frank, H. C.C. Alvin, A. Ganfuss, Karen Herbert, Paul T. Golumbek, D. Villano, B. Wenderickx, B. C. Lim, W. S. Son

المساهمون: Schara, Ulrike (Beitragende*r), Ganfuss, Andrea (Beitragende*r), Koelbel, Heike (Beitragende*r), Rupprich, Katrin (Beitragende*r), Schroers, Ester Sarah (Beitragende*r), Sponemann, Nina (Beitragende*r), Çocuk Sağlığı ve Hastalıkları

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, Movement disorders, animal diseases, Messenger, Oligonucleotides, Medizin, Spinal Muscular Atrophies of Childhood, 0302 clinical medicine, Age of Onset, Disease-Free Survival, Double-Blind Method, Female, Humans, Infant, Injections, Spinal, Motor Skills, Oligonucleotides, Antisense, RNA, Messenger, Respiration, Artificial, Survival Analysis, Survival of Motor Neuron 2 Protein, Medicine (all), Respiration, General Medicine, Settore MED/26 - NEUROLOGIA, medicine.anatomical_structure, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Artificial, Nusinersen, medicine.symptom, medicine.medical_specialty, Spinal, Injections, 03 medical and health sciences, Atrophy, General & Internal Medicine, Settore MED/41 - ANESTESIOLOGIA, medicine, Antisense, Survival analysis, business.industry, Spinal muscular atrophy, Motor neuron, medicine.disease, nervous system diseases, 030104 developmental biology, nervous system, RNA, Infantile onset, Age of onset, business, 030217 neurology & neurosurgery

وصف الملف: text/plain

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1902aea91371408a707bf0d8e637462
https://www.ncbi.nlm.nih.gov/pubmed/29091570

المؤلفون: T. Nakayama, K. Ishiguro, Takatoshi Sato, Yuichi Hayashi, S. Kajino, M. Shichiji, S. Nagata, Terumi Murakami, Satoshi Kuru, Makiko Osawa, Keiko Ishigaki

المصدر: Neuromuscular Disorders. 27:S141-S142

مصطلحات موضوعية: Pathology, medicine.medical_specialty, medicine.anatomical_structure, Neurology, business.industry, Rippling muscle disease, Pediatrics, Perinatology and Child Health, Medicine, Skeletal muscle, Neurology (clinical), business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::06157580a1c94ada568a17c764d2c0df
https://doi.org/10.1016/j.nmd.2017.06.179

المؤلفون: Kaoru Imai, Keiko Shimojima, Makiko Osawa, Seiji Mizuno, Katsumi Imai, Jun Natsume, M. Shichiji, Akihisa Okumura, Tohru Okanishi, Hirokazu Oguni, Kyoko Hirasawa, Toshiyuki Yamamoto, Jao-Shwann Liang, Hiroko Ikeda, Yukitoshi Takahashi, Rumiko Takayama, Midori Sugawara, Tomoshiro Ito

المصدر: Epilepsia. 52:1835-1842

مصطلحات موضوعية: Pathology, medicine.medical_specialty, medicine.diagnostic_test, Seizure types, CDKL5, Physiology, Magnetic resonance imaging, Rett syndrome, Electroencephalography, Biology, medicine.disease, MECP2, Neurology, Frontal lobe, medicine, Clinical significance, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0e54a3cc19b03fb509b28abdfdc5750f
https://doi.org/10.1111/j.1528-1167.2011.03174.x

المؤلفون: M. Shichiji, Michiru Adachi, Terumi Murakami, Y. Kihara, K. Ishiguro, S. Nagata, Takatoshi Sato, Keiko Ishigaki

المصدر: Neuromuscular Disorders. 28:S128

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::317df7e839cb8cf001ae6297868cb74e
https://doi.org/10.1016/j.nmd.2018.06.371

المؤلفون: S. Nagata, Terumi Murakami, Takatoshi Sato, K. Ishiguro, Makiko Osawa, Keiko Ishigaki, M. Shichiji

المصدر: Neuromuscular Disorders. 26:S99-S100

مصطلحات موضوعية: medicine.anatomical_structure, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Fukuyama congenital muscular dystrophy, medicine, Skeletal muscle, Neurology (clinical), Anatomy, medicine.disease, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8440629ed48b6f03613e31ebbab0ac2d
https://doi.org/10.1016/j.nmd.2016.06.054