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1
المؤلفون: Eiji Isozaki, Tomoya Kawazoe, Takeshi Mizuguchi, Akihiro Kawata, Ichizo Nishino, Naomichi Matsumoto, Yuichi Goto, Shinsuke Tobisawa, Hiroshi Yoshihashi, Takashi Komori, Naohiro Egawa, Kazuhito Miyamoto, Akinori Uruha, Keizo Sugaya
المصدر: Internal Medicine. 61:547-552
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Future studies, Intranuclear Inclusion Bodies, Progressive myoclonus epilepsy, DNA, Mitochondrial, Atrophy, Ragged-red fibers, Internal Medicine, medicine, Humans, Aged, medicine.diagnostic_test, business.industry, Intranuclear Inclusions, General Medicine, medicine.disease, MERRF Syndrome, Mitochondria, Optic Atrophy, Peripheral neuropathy, Mutation, Skin biopsy, Myoclonic epilepsy, Female, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c334ea8a7cab58843606326a709d3381
https://doi.org/10.2169/internalmedicine.7767-21 -
2
المؤلفون: Michio Inoue, Jun Karashima, Utako Nagaoka, Ichizo Nishino, Kazushi Takahashi, Yasushi Oya, Asuka Funai, Kazuma Sugie, Mariko Okubo, Toshio Yasui, Kazuhito Miyamoto, Akinori Uruha, Keizo Sugaya, Shiro Matsubara
المساهمون: CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), National Center of Neurology and Psychiatry National Institute of Mental Health (NCNP), Institut de Myologie, 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), National Center of Neurology and Psychiatry [Tokyo, Japan]
المصدر: Neuromuscular Disorders
Neuromuscular Disorders, 2021, 31 (11), pp.1207-1211. ⟨10.1016/j.nmd.2021.07.017⟩مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, [SDV]Life Sciences [q-bio], Cardiomyopathy, Muscle weakness, medicine.disease, Left ventricular hypertrophy, Asymptomatic, Supraventricular extrasystole, Exon, Neurology, Pediatrics, Perinatology and Child Health, medicine, Danon disease, Neurology (clinical), medicine.symptom, business, Genetics (clinical), Retinopathy
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3
المؤلفون: Masahide Yazaki, Ryusei Nishigori, Yasuyuki Takai, Akihiro Kawata, Toshihiro Ohura, Shinsuke Tobisawa, Tomiko Kuhara, Ryohei Norioka, Asuka Funai, Kazushi Takahashi, Masayoshi Nagao, Kazuhito Miyamoto
المصدر: Intractable Rare Dis Res
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Argininosuccinate synthase, Case Report, 030105 genetics & heredity, Gene mutation, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, medicine, biology, business.industry, Citrullinemia, Hyperammonemia, General Medicine, Ornithine, medicine.disease, Endocrinology, Citrin, chemistry, Saccharopine, Saccharopinuria, biology.protein, business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a64940e36b82d3d3a70eade4e8b924f1
https://europepmc.org/articles/PMC8122307/ -
4
المؤلفون: Eiji Isozaki, Yasuhiro Morita, Shingo Itagaki, Shinsuke Tobisawa, Kenji Nishida, Sanami Azuma, Masahiro Nagao, Tomoyuki Inoue, Naoto Yokogawa, Keizo Sugaya, Manaka Goto, Toshio Shimizu, Tomoya Kawazoe, Kazuhito Miyamoto
المصدر: Internal Medicine
مصطلحات موضوعية: Vasculitis, Pathology, medicine.medical_specialty, peripheral neuropathy, Cholangitis, Sclerosing, Case Report, Disease, 030204 cardiovascular system & hematology, Autoimmune Diseases, 03 medical and health sciences, 0302 clinical medicine, Refractory, Internal Medicine, medicine, Humans, IgG4-related disease, Pathological, Unilateral ptosis, business.industry, vasculitic neuropathy, Peripheral Nervous System Diseases, General Medicine, medicine.disease, Pathophysiology, Peripheral neuropathy, systemic autoimmune disease, Immunoglobulin G, 030211 gastroenterology & hepatology, Immunoglobulin G4-Related Disease, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89d8ae5d04456d15ba20ea0a6e95e57e
https://pubmed.ncbi.nlm.nih.gov/33456044 -
5دورية أكاديمية
المؤلفون: Tomoya Kawazoe, Shinsuke Tobisawa, Keizo Sugaya, Akinori Uruha, Kazuhito Miyamoto, Takashi Komori, Yu-ichi Goto, Ichizo Nishino, Hiroshi Yoshihashi, Takeshi Mizuguchi, Naomichi Matsumoto, Naohiro Egawa, Akihiro Kawata, Eiji Isozaki
المصدر: Internal Medicine; 2022, Vol. 61 Issue 4, p547-552, 6p
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6
المؤلفون: Keizo Sugaya, Shiro Matsubara, Ryo Morishima, Shigeaki Suzuki, Reiji Koide, Kazuhito Miyamoto, Takashi Komori, Kota Bokuda, Ichizo Nishino, Yuri Asano
المصدر: Neuromuscular Disorders. 28:283-288
مصطلحات موضوعية: Adult, 0301 basic medicine, Pathology, medicine.medical_specialty, Programmed cell death, Vacuole, Mitochondrion, Biology, Polymyositis, 03 medical and health sciences, Downregulation and upregulation, Mitophagy, medicine, Humans, Muscle, Skeletal, Genetics (clinical), Autoantibodies, Myositis, Autophagy, Autoantibody, Middle Aged, medicine.disease, 030104 developmental biology, Neurology, Pediatrics, Perinatology and Child Health, Female, Hydroxymethylglutaryl CoA Reductases, Neurology (clinical)
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7
المؤلفون: Koichi Kondo, Shiro Matsubara, Akihiro Kawata, Imaharu Nakano, Takashi Komori, Kazuhito Miyamoto
المصدر: Clinical and Experimental Neuroimmunology. 7:185-196
مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, Pathology, medicine.medical_specialty, Valosin-containing protein, Immunology, Sarcoplasm, Neuroscience (miscellaneous), Polymyositis, 03 medical and health sciences, 0302 clinical medicine, Immunology and Microbiology (miscellaneous), medicine, Hereditary inclusion body myopathy, biology, business.industry, Anatomy, Dermatomyositis, medicine.disease, 030104 developmental biology, biology.protein, Immunohistochemistry, Neurology (clinical), Inclusion body myositis, business, 030217 neurology & neurosurgery, Lamin
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8
المؤلفون: Keizo Sugaya, Shiro Matsubara, Kazuhito Miyamoto, Masahiro Nagao, Takashi Komori, Tomoya Kawazoe, Satoshi Yamashita, Eiji Isozaki, Utako Nagaoka, Akinori Uruha, Hideki Kimura, Rui Shimazaki
المصدر: Journal of Clinical Neurology (Seoul, Korea)
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, business.industry, medicine, Rimmed vacuoles, Antimitochondrial antibody, Neurology (clinical), medicine.disease, business, Letter to the Editor, Myositis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1358fa9520f8041afe01e3c06c2ff5a8
https://doi.org/10.3988/jcn.2020.16.3.510 -
9
المؤلفون: Kazuhito Miyamoto, Morinobu Seki, Kentaro Ohara, Yoshihiro Nihei, Norihiro Suzuki, Shigeaki Suzuki, Shiro Matsubara, Akiko Tanikawa, Mariko Tanikawa
المصدر: Journal of the Neurological Sciences. 367:275-277
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, medicine.disease, Dermatology, Inflammatory myopathy, 03 medical and health sciences, Purpura, 030104 developmental biology, 0302 clinical medicine, Neurology, medicine, Neurology (clinical), Differential diagnosis, medicine.symptom, business, 030217 neurology & neurosurgery, Myositis
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10
المؤلفون: Kazuma Shinodsuka, Kazuhito Miyamoto, Toshio Shimizu, Kota Bokuda, Eiji Isozaki, Hideki Kimura, Akie Ishizaka, Ryo Morishima, Tsutomu Kamiyama, Asuka Funai, Kiyomi Koike
المصدر: Clinical Neurophysiology. 130:e207
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, medicine.diagnostic_test, business.industry, Physiology (medical), Nerve conduction study, Medicine, Neurology (clinical), business, Sensory Systems, Vasculitic neuropathy