يعرض 1 - 10 نتائج من 44 نتيجة بحث عن '"Mariko Okubo"', وقت الاستعلام: 6.06s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy

    المؤلفون: Wakako Yoshioka, Aritoshi Iida, Kyuto Sonehara, Kazuki Yamamoto, Yasushi Oya, Madoka Mori-Yoshimura, Takashi Kurashige, Mariko Okubo, Megumu Ogawa, Fumihiko Matsuda, Koichiro Higasa, Shinichiro Hayashi, Harumasa Nakamura, Masakazu Sekijima, Yukinori Okada, Satoru Noguchi, Ichizo Nishino

    المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2045-2322

    URL الوصول: https://doaj.org/article/4f9dabf851b449cc98ef9808181bb5ac

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  2. 2
    دورية أكاديمية
    Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan

    المؤلفون: Mariko Okubo, Kanako Goto, Hirofumi Komaki, Harumasa Nakamura, Madoka Mori-Yoshimura, Yukiko K. Hayashi, Satomi Mitsuhashi, Satoru Noguchi, En Kimura, Ichizo Nishino

    المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-7 (2017)

    مصطلحات موضوعية: Duchenne and Becker muscular dystrophies, Genetic diagnosis, MLPA, Nucleotide sequencing, Medicine

    وصف الملف: electronic resource

    Relation: http://link.springer.com/article/10.1186/s13023-017-0703-4; https://doaj.org/toc/1750-1172

    URL الوصول: https://doaj.org/article/8c1d0ebcb269436cb32889cbfab94b81

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  3. 3
    Mild form of Danon disease: two case reports

    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

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be8ecfa822ce6c728bf1a11509d6c656
    https://doi.org/10.1016/j.nmd.2021.07.017

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  4. 4
    دورية أكاديمية
    Becker Muscular Dystrophy Accompanied by Anti-HMGCR Antibody-positive Immune-mediated Necrotizing Myopathy.

    المؤلفون: Asami Munekane, Yutaka Ohsawa, Mariko Okubo, Taiji Nagai, Hirotake Nishimura, Ichizo Nishino, Yoshihide Sunada

    المصدر: Internal Medicine; 2023, Vol. 62 Issue 9, p1345-1349, 5p

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  5. 5
    Gene therapy for striated muscle laminopathy

    المؤلفون: Mariko Okubo, Astrid Brull, Isabelle Nelson, Maud Beuvin, Laura Julien, Valérie Paradis, Bertrand, Anne T., Gisèle Bonne

    المساهمون: 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), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre de recherche biomédicale Bichat-Beaujon (CRB3), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Gisèle Bonne, Ichizo Nishino

    المصدر: 12th French-Japanese Workshop on Neuromuscular Diseases
    12th French-Japanese Workshop on Neuromuscular Diseases, Gisèle Bonne; Ichizo Nishino, Sep 2022, Giverny, France
    HAL

    مصطلحات موضوعية: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Lamin A/C LMNA gene, laminopathies, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, gene therapy

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8589fc0248e88c8795dbc20569d7ec71
    https://hal.science/hal-03989233

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  6. 6
    [Development of Deep Convolutional Neural Network-Based Algorithm for Muscle Biopsy Diagnosis]

    المؤلفون: Mariko, Okubo, Yoshinori, Kabeya, Ichizo, Nishino

    المصدر: Brain and nerve = Shinkei kenkyu no shinpo. 74(8)

    مصطلحات موضوعية: Deep Learning, Myositis, Artificial Intelligence, Biopsy, Muscles, Humans, Neural Networks, Computer, Algorithms

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::151fa0b5a6583becb03adee817564b8c
    https://pubmed.ncbi.nlm.nih.gov/35941800

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  7. 7
    RNA-seq analysis, targeted long-read sequencing, and in silico prediction to unravel pathogenic intronic events and predict the regulatory mechanisms underlying complex splicing abnormalities in patients with dystrophinopathy

    المؤلفون: Mariko Okubo, Satoru Noguchi, Tomonari Awaya, Motoyasu Hosokawa, Nobue Tsukui, Megumu Ogawa, Shinichiro Hayashi, Hirofumi Komaki, Madoka Mori-Yoshimura, Yasushi Oya, Yuji Takahashi, Tetsuhiro Fukuyama, Michinori Funato, Yousuke Hosokawa, Satoru Kinoshita, Tsuyoshi Matsumura, Sadao Nakamura, Azusa Oshiro, Hiroshi Terashima, Tetsuro Nagasawa, Tatsuharu Sato, Yumi Shimada, Yasuko Tokita, Masatoshi Hagiwara, Katsuhisa Ogata, Ichizo Nishino

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9aae276abc71be95b910a4bbc1700357
    https://doi.org/10.21203/rs.3.rs-1772868/v1

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  8. 8
    RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy

    المؤلفون: Mariko Okubo, Satoru Noguchi, Tomonari Awaya, Motoyasu Hosokawa, Nobue Tsukui, Megumu Ogawa, Shinichiro Hayashi, Hirofumi Komaki, Madoka Mori-Yoshimura, Yasushi Oya, Yuji Takahashi, Tetsuhiro Fukuyama, Michinori Funato, Yousuke Hosokawa, Satoru Kinoshita, Tsuyoshi Matsumura, Sadao Nakamura, Azusa Oshiro, Hiroshi Terashima, Tetsuro Nagasawa, Tatsuharu Sato, Yumi Shimada, Yasuko Tokita, Masatoshi Hagiwara, Katsuhisa Ogata, Ichizo Nishino

    المساهمون: 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], Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, National Center of Neurology and Psychiatry, Department of neurology, The University of Tokyo (UTokyo), Toneyama National Hospital

    المصدر: Human Genetics
    Human Genetics, 2022, ⟨10.1007/s00439-022-02485-2⟩

    مصطلحات موضوعية: [SDV]Life Sciences [q-bio], Genetics, Genetics (clinical)

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d4311749a28528eab6bb5d5989835c8
    https://pubmed.ncbi.nlm.nih.gov/36048237

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  9. 9
    Hepatic veno-occlusive disease accompanied by thrombotic microangiopathy developing during treatment of juvenile dermatomyositis and macrophage activation syndrome: A case report

    المؤلفون: Mariko Mouri, Toru Kanamori, Eriko Tanaka, Kanako Hiratoko, Mariko Okubo, Michio Inoue, Tomohiro Morio, Masaki Shimizu, Ichizo Nishino, Naoko Okiyama, Masaaki Mori

    المصدر: Modern rheumatology case reports.

    مصطلحات موضوعية: Rheumatology

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbe1c7be7a8f59146185924b1ce91878
    https://pubmed.ncbi.nlm.nih.gov/36416547

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  10. 10
    A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of Titin

    المؤلفون: Takashi Kanda, Mariko Okubo, Yasuteru Sano, Mariko Oishi, Satoko Ota, Ichizo Nishino, Masaya Honda, Masatoshi Omoto, Motoharu Kawai

    المساهمون: Yamaguchi University [Yamaguchi], 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: Internal Medicine
    Internal Medicine, 2022, 61 (10), pp.1587-1592. ⟨10.2169/internalmedicine.7733-21⟩

    مصطلحات موضوعية: Pathology, medicine.medical_specialty, [SDV]Life Sciences [q-bio], medicine.disease_cause, Exon, Japan, Muscular Diseases, Internal Medicine, medicine, Humans, Connectin, Respiratory system, Semitendinosus muscle, Myopathy, Muscle, Skeletal, Aged, Mutation, biology, business.industry, Genetic Diseases, Inborn, General Medicine, musculoskeletal system, Respiratory failure, biology.protein, Titin, medicine.symptom, Differential diagnosis, business, Respiratory Insufficiency

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2beee547435423f2d2d9df5222a4b065
    https://pubmed.ncbi.nlm.nih.gov/34670883

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