Assessment of thrombocytopenia, sleep apnea, and cardiac involvement in GNE myopathy patients
Mori‐Yoshimura, Madoka, Kimura, Ayano, Tsuru, Ayumi, Yajima, Hiroyuki, Segawa, Kazuhiko, Mizuno, Katsuhiro, Oya, Yasushi, Noguchi, Satoru, Nishino, Ichizo, Takahashi, Yuji
Published in Muscle & nerve (01.03.2022)
Published in Muscle & nerve (01.03.2022)
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Journal Article
Characteristics of the muscle involvement along the disease progression in a large cohort of oculopharyngodistal myopathy compared to oculopharyngeal muscular dystrophy
Eura, Nobuyuki, Noguchi, Satoru, Ogasawara, Masashi, Kumutpongpanich, Theerawat, Hayashi, Shinichiro, Nishino, Ichizo
Published in Journal of neurology (01.12.2023)
Published in Journal of neurology (01.12.2023)
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Journal Article
Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy
Ogasawara, Masashi, Eura, Nobuyuki, Nagaoka, Utako, Sato, Tatsuro, Arahata, Hajime, Hayashi, Tomohiro, Okamoto, Tomoko, Takahashi, Yuji, Mori‐Yoshimura, Madoka, Oya, Yasushi, Nakamura, Akinori, Shimazaki, Rui, Sano, Terunori, Kumutpongpanich, Theerawat, Minami, Narihiro, Hayashi, Shinichiro, Noguchi, Satoru, Iida, Aritoshi, Takao, Masaki, Nishino, Ichizo
Published in Neuropathology and applied neurobiology (01.04.2022)
Published in Neuropathology and applied neurobiology (01.04.2022)
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Journal Article
Emery‐Dreifuss muscular dystrophy‐related myopathy with TMEM43 mutations
Mukai, Taiji, Mori‐Yoshimura, Madoka, Nishikawa, Atsuko, Hokkoku, Keiichi, Sonoo, Masahiro, Nishino, Ichizo, Takahashi, Yuji
Published in Muscle & nerve (01.02.2019)
Published in Muscle & nerve (01.02.2019)
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Journal Article
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale
Jacobs, Marni B., James, Meredoith K., Lowes, Linda P., Alfano, Lindsay N., Eagle, Michelle, Muni Lofra, Robert, Moore, Ursula, Feng, Jia, Rufibach, Laura E., Rose, Kristy, Duong, Tina, Bello, Luca, Pedrosa‐Hernández, Irene, Holsten, Scott, Sakamoto, Chikako, Canal, Aurélie, Sanchez‐Aguilera Práxedes, Nieves, Thiele, Simone, Siener, Catherine, Vandevelde, Bruno, DeWolf, Brittney, Maron, Elke, Guglieri, Michela, Hogrel, Jean‐Yves, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha‐Goebel, Diana X., Salort‐Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori‐Yoshimura, Madoka, Bravver, Elena, Díaz‐Manera, Jordi, Pegoraro, Elena, Mendell, Jerry R., Mayhew, Anna G., Straub, Volker
Published in Annals of neurology (01.05.2021)
Published in Annals of neurology (01.05.2021)
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Journal Article
Unique Lewy pathology in myotonic dystrophy type 1
Sano, Terunori, Kawazoe, Tomoya, Shioya, Ayako, Mori‐Yoshimura, Madoka, Oya, Yasushi, Maruo, Kazushi, Nishino, Ichizo, Hoshino, Mikio, Murayama, Shigeo, Saito, Yuko
Published in Neuropathology (01.04.2022)
Published in Neuropathology (01.04.2022)
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Journal Article
Comparison of strength testing modalities in dysferlinopathy
Reash, Natalie F., James, Meredith K., Alfano, Lindsay N., Mayhew, Anna G., Jacobs, Marni, Iammarino, Megan A., Holsten, Scott, Sakamoto, Chikako, Tateishi, Takayuki, Yajima, Hiroyuki, Duong, Tina, Wolf, Brittney, Gee, Richard, Bharucha‐Goebel, Diana X., Bravver, Elena, Mori‐Yoshimura, Madoka, Bushby, Kate, Rufibach, Laura E., Straub, Volker, Lowes, Linda P.
Published in Muscle & nerve (01.08.2022)
Published in Muscle & nerve (01.08.2022)
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Journal Article
Cardiac and pulmonary findings in dysferlinopathy: A 3‐year, longitudinal study
Moore, Ursula, Fernandez‐Torron, Roberto, Jacobs, Marni, Gordish‐Dressman, Heather, Diaz‐Manera, Jordi, James, Meredith K., Mayhew, Anna G., Harris, Elizabeth, Guglieri, Michela, Rufibach, Laura E., Feng, Jia, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha‐Goebel, Diana X., Salort‐Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori‐Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Lowes, Linda Pax, Mendell, Jerry R., Bushby, Kate, Bourke, John, Straub, Volker
Published in Muscle & nerve (01.05.2022)
Published in Muscle & nerve (01.05.2022)
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Journal Article
A 31‐Year‐Old Man with Slowly Progressive Limb Muscle Weakness and Respiratory Insufficiency
Uruha, Akinori, Hayashi, Yukiko K., Mori‐Yoshimura, Madoka, Oya, Yasushi, Kanai, Masahiro, Murata, Miho, Nishino, Ichizo
Published in Brain pathology (Zurich, Switzerland) (01.01.2018)
Published in Brain pathology (Zurich, Switzerland) (01.01.2018)
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Journal Article
Water T2 could predict functional decline in patients with dysferlinopathy
Moore, Ursula, Caldas de Almeida Araújo, Ericky, Reyngoudt, Harmen, Gordish‐Dressman, Heather, Smith, Fiona E., Wilson, Ian, James, Meredith, Mayhew, Anna, Rufibach, Laura, Day, John W., Jones, Kristi J., Bharucha‐Goebel, Diana X., Salort‐Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori‐Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Mendell, Jerry R., Bushby, Kate, Blamire, Andrew M., Straub, Volker, Carlier, Pierre G., Diaz‐Manera, Jordi
Published in Journal of cachexia, sarcopenia and muscle (01.12.2022)
Published in Journal of cachexia, sarcopenia and muscle (01.12.2022)
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Journal Article
Quantitative Analysis of Surface Electromyography for Pediatric Neuromuscular Disorders
Higashihara, Mana, Sonoo, Masahiro, Ishiyama, Akihiko, Nagashima, Yu, Matsumoto, Kohji, Uesugi, Haruo, Mori‐Yoshimura, Madoka, Murata, Miho, Murayama, Shigeo, Komaki, Hirofumi
Published in Muscle & nerve (01.12.2018)
Published in Muscle & nerve (01.12.2018)
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Journal Article
A 67‐Year‐Old Man with Leg Weakness and Hypertrophic Cardiomyopathy
Kawazoe, Tomoya, Uruha, Akinori, Mori‐Yoshimura, Madoka, Saito, Yuko, Ikeda, Shu‐ichi, Saji, Mike, Tanimura, Akira, Amano, Tomofumi, Okamoto, Tomoko, Oya, Yasushi, Murata, Miho, Nishino, Ichizo, Takahashi, Yuji
Published in Brain pathology (Zurich, Switzerland) (01.03.2020)
Published in Brain pathology (Zurich, Switzerland) (01.03.2020)
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Journal Article
Phenotype of a limb-girdle congenital myasthenic syndrome patient carrying a GFPT1 mutation
Matsumoto, Chihiro, Mori-Yoshimura, Madoka, Noguchi, Satoru, Endo, Yukari, Oya, Yasushi, Murata, Miho, Nishino, Ichizo, Takahashi, Yuji
Published in Brain & development (Tokyo. 1979) (01.05.2019)
Published in Brain & development (Tokyo. 1979) (01.05.2019)
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Journal Article
Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report
Komaki, Ryouhei, Hashimoto, Yasumasa, Mori-Yoshimura, Madoka, Oya, Yasushi, Takizawa, Hotake, Minami, Narihiro, Nishino, Ichizo, Aoki, Yoshitsugu, Takahashi, Yuji
Published in Journal of human genetics (01.10.2020)
Published in Journal of human genetics (01.10.2020)
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Journal Article
Natural history of Becker muscular dystrophy: a multicenter study of 225 patients
Nakamura, Akinori, Matsumura, Tsuyoshi, Ogata, Katsuhisa, Mori‐Yoshimura, Madoka, Takeshita, Eri, Kimura, Koichi, Kawashima, Takahiro, Tomo, Yui, Arahata, Hajime, Miyazaki, Daigo, Takeshima, Yasuhiro, Takahashi, Toshiaki, Ishigaki, Keiko, Kuru, Satoshi, Wakisaka, Akiko, Awano, Hiroyuki, Funato, Michinori, Sato, Tatsuharu, Saito, Yoshiaki, Takada, Hiroto, Sugie, Kazuma, Kobayashi, Michio, Ozasa, Shiro, Fujii, Tatsuya, Maegaki, Yoshihiro, Oi, Hideki, Tachimori, Hisateru, Komaki, Hirofumi
Published in Annals of clinical and translational neurology (01.12.2023)
Published in Annals of clinical and translational neurology (01.12.2023)
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Journal Article
Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5′UTR and founder allele
Zhu, Wenhua, Mitsuhashi, Satomi, Yonekawa, Takahiro, Noguchi, Satoru, Huei, Josiah Chai Yui, Nalini, Atchayaram, Preethish-Kumar, Veeramani, Yamamoto, Masayoshi, Murakata, Kenji, Mori-Yoshimura, Madoka, Kamada, Sachiko, Yahikozawa, Hiroyuki, Karasawa, Masato, Kimura, Seigo, Yamashita, Fumitada, Nishino, Ichizo
Published in Journal of human genetics (01.02.2017)
Published in Journal of human genetics (01.02.2017)
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Journal Article
Social difficulties and care burden of adult Duchenne muscular dystrophy in Japan: a questionnaire survey based on the Japanese Registry of Muscular Dystrophy (Remudy)
Mori-Yoshimura, Madoka, Ishigaki, Keiko, Shimizu-Motohashi, Yuko, Ishihara, Naoko, Unuma, Atushi, Yoshida, Sumiko, Nakamura, Harumasa
Published in Orphanet journal of rare diseases (30.04.2024)
Published in Orphanet journal of rare diseases (30.04.2024)
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Journal Article