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收藏分享 收藏 分享 收藏 分享 收藏 COL4A5 Intronic Variants at Third to Fifth Nucleotides Cause Alport Syndrome
Kitakado, Hideaki; Horinouchi, Tomoko; Aoyama, Shuhei; Kimura, Yuka; Inoki, Yuta; Tanaka, Yu; Ueda, Chika; Aoto, Yuya; Sakakibara, Nana; Nagano, China; Yamamura, Tomohiko; Ishimori, Shingo; Rossanti, Rini; Matsuo, Masafumi; Nozu, Kandai 分享 收藏 Titin fragment is a sensitive biomarker in Duchenne muscular dystrophy model mice carrying full-length human dystrophin gene on human artificial chromosomeHiramuki, Yosuke; Hosokawa, Miwa; Osawa, Kayo; Shirakawa, Taku; Watanabe, Yasuhiro; Hanajima, Ritsuko; Kugoh, Hiroyuki; Awano, Hiroyuki; Matsuo, Masafumi; Kazuki, Yasuhiro 分享 收藏 The N-Terminal Fragment of Urine Titin Is Not a Product of Degradation by Calpain 3尿肌联蛋白的N端片段并非钙蛋白酶3的降解产物Nambu, Yoshinori; Matsumura, Tsuyoshi; Machida, Kyoka; Tsutsumi, Rie; Hata, Shoji; Shinkai-Ouchi, Fumiko; Ono, Yasuko; Osawa, Kayo; Shirakawa, Taku; Bo, Ryosuke; Nishio, Hisahide; Sakaue, Hiroshi; Awano, Hiroyuki; Matsuo, Masafumi 分享 收藏 Urinary titin reflects the severity of walking ability, muscle strength, and muscle and cardiac damage in patients with Becker muscular dystrophy尿titin反映了Becker肌营养不良患者的行走能力，肌肉力量以及肌肉和心脏损害的严重程度Awano, Hiroyuki; Nambu, Yoshinori; Osawa, Kayo; Shirakawa, Taku; Matsumura, Tsuyoshi; Wakisaka, Akiko; Kuru, Satoshi; Funato, Michinori; Takeshima, Yasuhiro; Ishigaki, Keiko; Kobayashi, Michio; Sato, Tatsuharu; Fujii, Tatsuya; Sugie, Kazuma; Kimura, Koichi; Komaki, Hirofumi; Nakamura, Akinori; Matsuo, Masafumi 分享 收藏 Urinary titin as a biomarker of sarcopenia in diabetes: a propensity score matching analysisTakiguchi, Y.; Tsutsumi, R.; Shimabukuro, M.; Tanabe, H.; Kawakami, A.; Hyodo, M.; Shiroma, K.; Saito, H.; Matsuo, M.; Sakaue, H. 分享 收藏 分享 收藏 分享 收藏 Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegenerationYamada, Mamiko; Maeta, Kazuhiro; Suzuki, Hisato; Kurosawa, Ryo; Takenouchi, Toshiki; Awaya, Tomonari; Ajiro, Masahiko; Takeuchi, Atsuko; Nishio, Hisahide; Hagiwara, Masatoshi; Miya, Fuyuki; Matsuo, Masafumi; Kosaki, Kenjiro 分享 收藏 A splice-switching oligonucleotide treatment ameliorates glycogen storage disease type 1a in mice with G6PC c.648G>TIto, Kentaro; Tajima, Go; Kamisato, Chikako; Tsumura, Miyuki; Iwamoto, Mitsuhiro; Sekiguchi, Yukiko; Numata, Yukinobu; Watanabe, Kyoko; Yabe, Yoshiyuki; Kanki, Satomi; Fujieda, Yusuke; Goto, Koichi; Sogawa, Yoshitaka; Oitate, Masataka; Nagase, Hiroyuki; Tsuji, Shinnosuke; Nishizawa, Tomohiro; Kakuta, Masayo; Masuda, Takeshi; Onishi, Yoshiyuki; Koizumi, Makoto; Nakamura, Hidefumi; Okada, Satoshi; Matsuo, Masafumi; Takaishi, Kiyosumi 分享 收藏 分享 收藏 Evaluation of Suspected Autosomal Alport Syndrome Synonymous VariantsRossanti, Rini; Horinouchi, Tomoko; Yamamura, Tomohiko; Nagano, China; Sakakibara, Nana; Ishiko, Shinya; Aoto, Yuya; Kondo, Atsushi; Nagai, Sadayuki; Okada, Eri; Ishimori, Shingo; Nagase, Hiroaki; Matsui, Satoshi; Tamagaki, Keiichi; Ubara, Yoshifumi; Nagahama, Masahiko; Shima, Yuko; Nakanishi, Koichi; Ninchoji, Takeshi; Matsuo, Masafumi; Iijima, Kazumoto; Nozu, Kandai 分享 收藏 A sandwich ELISA kit reveals marked elevation of titin N-terminal fragment levels in the urine of mdx miceShirakawa, Taku; Ikushima, Ayumu; Maruyama, Nobuhiro; Nambu, Yoshinori; Awano, Hiroyuki; Osawa, Kayo; Nirasawa, Kei; Negishi, Yoichi; Nishio, Hisahide; Fukushima, Shoji; Matsuo, Masafumi 分享 收藏 Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant SplicingAoto, Yuya; Horinouchi, Tomoko; Yamamura, Tomohiko; Kondo, Atsushi; Nagai, Sadayuki; Ishiko, Shinya; Okada, Eri; Rossanti, Rini; Sakakibara, Nana; Nagano, China; Awano, Hiroyuki; Nagase, Hiroaki; Shima, Yuko; Nakanishi, Koichi; Matsuo, Masafumi; Iijima, Kazumoto; Nozu, Kandai 分享 收藏 Systematic Review of Genotype-Phenotype Correlations in Frasier SyndromeTsuji, Yurika; Yamamura, Tomohiko; Nagano, China; Horinouchi, Tomoko; Sakakibara, Nana; Ishiko, Shinya; Aoto, Yuya; Rossanti, Rini; Okada, Eri; Tanaka, Eriko; Tsugawa, Koji; Okamoto, Takayuki; Sawai, Toshihiro; Araki, Yoshinori; Shima, Yuko; Nakanishi, Koichi; Nagase, Hiroaki; Matsuo, Masafumi; Iijima, Kazumoto; Nozu, Kandai 分享 收藏 分享 收藏 分享 收藏 
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