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Aberrant lysosomal dynamics disrupt myogenesis via mTORC1 signalling in X-linked myotubular myopathy X连锁肌管型肌营养不良中，异常的溶酶体动力学通过mTORC1信号通路破坏肌生成。 Kora, Kengo; Yoshida, Takeshi; Yokoyama, Atsushi; Fujiwara, Kei; Yano, Naoko; Kayaki, Taisei; Kajimoto, Satoshi; Nishikawa, Kinuko; Sakurai, Hidetoshi; Takita, Junko 分享 收藏
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Glycosylphosphatidylinositol Biosynthesis Defect Due To Novel Biallelic Pathogenic Variants in PIGW 由于PIGW新型双等位致病性变异导致的糖基磷脂酰肌醇生物合成缺陷 Rabouhi, Nazim; Salian, Smrithi; Benkerroum, Hind; Yoshida, Takeshi; Uddin, Humayra; Nguyen, Thi Tuyet Mai; Fujita, Takako; Hirose, Shinichi; Kosaki, Kenjiro; Lefebvre, Mathilde; Bourgon, Nicolas; Thauvin-Robinet, Christel; Kamalova, Aelita; Shakhirova, Almaziya; Gill, Harinder; Lee, Hyun Kyung; Menke, Leonie A.; Kinoshita, Taroh; Murakami, Yoshiko; Campeau, Philippe M. 分享 收藏
Two-year trajectory of functional recovery and quality of life in post-intensive care syndrome: a multicenter prospective observational study on mechanically ventilated patients with coronavirus disease-19 Hatakeyama, Junji; Nakamura, Kensuke; Inoue, Shigeaki; Liu, Keibun; Yamakawa, Kazuma; Nishida, Takeshi; Ohshimo, Shinichiro; Hashimoto, Satoru; Kanda, Naoki; Aso, Shotaro; Suganuma, Shinya; Maruyama, Shuhei; Ogata, Yoshitaka; Takasu, Akira; Kawakami, Daisuke; Shimizu, Hiroaki; Hayakawa, Katsura; Yoshida, Takeshi; Oshima, Taku; Fuchigami, Tatsuya; Yawata, Hironori; Oe, Kyoji; Kawauchi, Akira; Yamagata, Hidehiro; Harada, Masahiro; Sato, Yuichi; Nakamura, Tomoyuki; Sugiki, Kei; Hakozaki, Takahiro; Beppu, Satoru; Anraku, Masaki; Kato, Noboru; Iwashita, Tomomi; Kamijo, Hiroshi; Kitagawa, Yuichiro; Nagashima, Michio; Nishimaki, Hirona; Tokuda, Kentaro; Nishida, Osamu 分享 收藏
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Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome Yano, Naoko; Chong, Pin Fee; Kojima, Kenji K.; Miyoshi, Tomoichiro; Luqmen-Fatah, Ahmad; Kimura, Yu; Kora, Kengo; Kayaki, Taisei; Maizuru, Kanako; Hayashi, Takahiro; Yokoyama, Atsushi; Ajiro, Masahiko; Hagiwara, Masatoshi; Kondo, Teruyuki; Kira, Ryutaro; Takita, Junko; Yoshida, Takeshi 分享 收藏
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria Implications for the Diagnosis of Genetic Causes Kouhashi, Mutsuo; Yukawa, Kayoko; Yano, Naoko; Hagemeijer, Marne C.; Hirata, Shinya; Kambe, Daisuke; Yokoyama, Atsushi; Yoshida, Akira; Kora, Kengo; de Ronde, Corline J.; Vrieswijk, Sandrien; van der Meijden, Eric; Yoshida, Takeshi; Yamashita, Hirofumi 分享 收藏
Specific consistency score for rational selection of epilepsy resection surgery candidates Tojima, Maya; Shimotake, Akihiro; Neshige, Shuichiro; Okada, Tadashi; Kobayashi, Katsuya; Usami, Kiyohide; Matsuhashi, Masao; Honda, Masayuki; Takeyama, Hirofumi; Hitomi, Takefumi; Yoshida, Takeshi; Yokoyama, Atsushi; Fushimi, Yasutaka; Ueno, Tsukasa; Yamao, Yukihiro; Kikuchi, Takayuki; Namiki, Takao; Arakawa, Yoshiki; Takahashi, Ryosuke; Ikeda, Akio 分享 收藏
Rapid reduction in Staphylococcus aureus in atopic dermatitis subjects following dupilumab treatment dupilumab治疗后特应性皮炎受试者中金黄色葡萄球菌的快速减少 Simpson, Eric L.; Schlievert, Patrick M.; Yoshida, Takeshi; Lussier, Stephanie; Boguniewicz, Mark; Hata, Tissa; Fuxench, Zelma; De Benedetto, Anna; Ong, Peck Y.; Ko, Justin; Calatroni, Agustin; Spergel, Amanda K. Rudman; Plaut, Marshall; Quataert, Sally A.; Kilgore, Samuel H.; Peterson, Liam; Gill, Ann L.; David, Gloria; Mosmann, Tim; Gill, Steven R.; Leung, Donald Y. M.; Beck, Lisa A. 分享 收藏
Incidence of neurocutaneous melanosis in Japanese pediatric patients with congenital melanocytic nevi Takiya, Miyuki; Fushimi, Yasutaka; Sakamoto, Michiharu; Yoshida, Takeshi; Ueno, Kentaro; Nakajima, Satoshi; Sakata, Akihiko; Okuchi, Sachi; Otani, Sayo; Tagawa, Hiroshi; Morimoto, Naoki; Nakamoto, Yuji 分享 收藏
Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy Hayashi, Takahiro; Yano, Naoko; Kora, Kengo; Yokoyama, Atsushi; Maizuru, Kanako; Kayaki, Taisei; Nishikawa, Kinuko; Osawa, Mitsujiro; Niwa, Akira; Takenouchi, Toshiki; Hijikata, Atsushi; Shirai, Tsuyoshi; Suzuki, Hisato; Kosaki, Kenjiro; Saito, Megumu K.; Takita, Junko; Yoshida, Takeshi 分享 收藏
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Early diagnosis of amyotrophic lateral sclerosis based on fasciculations in muscle ultrasonography: A machine learning approach Fukushima, Koji; Takamatsu, Naoko; Yamamoto, Yuki; Yamazaki, Hiroki; Yoshida, Takeshi; Osaki, Yusuke; Haji, Shotaro; Fujita, Koji; Sugie, Kazuma; Izumi, Yuishin 分享 收藏
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5-Aminosalicylic acid intolerance is associated with a risk of adverse clinical outcomes and dysbiosis in patients with ulcerative colitis Mizuno, Shinta; Ono, Keiko; Mikami, Yohei; Naganuma, Makoto; Fukuda, Tomohiro; Minami, Kazuhiro; Masaoka, Tatsuhiro; Terada, Soichiro; Yoshida, Takeshi; Saigusa, Keiichiro; Hirahara, Norimichi; Miyata, Hiroaki; Suda, Wataru; Hattori, Masahira; Kanai, Takanori 分享 收藏
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