Danon disease: a phenotypic expression of LAMP-2 deficiency von Endo, Yukari, Furuta, Akiko, Nishino, Ichizo

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Identification of drug modifiers for RYR1-related myopathy using a multi-species discovery pipeline von Volpatti, Jonathan R., Endo, Yukari, Knox, Jessica, Groom, Linda, Brennan, Stephanie, Noche, Ramil, Zuercher, William J., Roy, Peter, Dirksen, Robert T., Dowling, James J.

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Construction of an Automatic Quantification Method for Bone Marrow Cellularity Using Image Analysis Software von Hatayama, Yuki, Endo, Yukari, Kojima, Nao, Yamashita, Noriko, Iwamoto, Takuya, Namba, Hiroya, Ichikawa, Hitomi, Kawamura, Koji, Fukuda, Tetsuya, Motokura, Toru

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Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility von Endo, Yukari, Groom, Linda, Celik, Alper, Kraeva, Natalia, Lee, Chang Seok, Jung, Sung Yun, Gardner, Lois, Shaw, Marie-Anne, Hamilton, Susan L., Hopkins, Philip M., Dirksen, Robert T., Riazi, Sheila, Dowling, James J.

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Phenotype of a limb-girdle congenital myasthenic syndrome patient carrying a GFPT1 mutation von Matsumoto, Chihiro, Mori-Yoshimura, Madoka, Noguchi, Satoru, Endo, Yukari, Oya, Yasushi, Murata, Miho, Nishino, Ichizo, Takahashi, Yuji

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SMARCA4-deficient thoracic sarcoma: report of a case and insights into how to reach the diagnosis using limited samples and resources von Kuwamoto, Satoshi, MD, PhD, Matsushita, Michiko, MT, PhD, Takeda, Kenichi, MD, PhD, Tanaka, Natsumi, MD, Endo, Yukari, MT, Yamasaki, Akira, MD, PhD, Kohashi, Kenichi, MD, PhD, Oda, Yoshinao, MD, PhD, Horie, Yasushi, MD, PhD

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Correlation between Quantitative Shear Wave Elastography and Pathologic Structures of Thyroid Lesions von Fukuhara, Takahiro, Matsuda, Eriko, Endo, Yukari, Takenobu, Masao, Izawa, Shoichiro, Fujiwara, Kazunori, Kitano, Hiroya

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Rapid glucocorticoid tapering therapy to reduce mortality from pneumocystis pneumonia in patients with rheumatic disease von Ando, Taiki, Abe, Yoshiyuki, Endo, Yukari, Tada, Kurisu, Yamaji, Ken, Tamura, Naoto

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Possible Relationship Between MYBL1 Alterations and Specific Primary Sites in Adenoid Cystic Carcinoma : A Clinicopathological and Molecular Study of 36 Cases von Endo, Yukari, Kuwamoto, Satoshi, Ohira, Takahito, Matsushita, Michiko, Matsushige, Takahiro, Fukuhara, Takahiro, Nakamoto, Shu, Hayashi, Kazuhiko, Kugoh, Hiroyuki, Hirooka, Yasuaki

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Plasma Exchange Therapy to Reduce Mortality in Japanese Patients With Diffuse Alveolar Hemorrhage and Microscopic Polyangiitis von Abe, Yoshiyuki, Yamaji, Ken, Endo, Yukari, Kusaoi, Makio, Nakano, Soichiro, Yang, Kwang‐Seok, Tada, Kurisu, Tsuda, Hiroshi, Tamura, Naoto

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Effect of acute exercise on monocarboxylate transporters 1 and 4 in untrained and trained Thoroughbreds von Kitaoka, Yu, Endo, Yukari, Mukai, Kazutaka, Aida, Hiroko, Hiraga, Atsushi, Takemasa, Tohru, Hatta, Hideo

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Persistent verbal and behavioral deficits after resection of the left supplementary motor area in epilepsy surgery von Endo, Yukari, Saito, Yoshiaki, Otsuki, Taisuke, Takahashi, Akio, Nakata, Yasuhiro, Okada, Kazue, Hirozane, Mayumi, Kaido, Takanobu, Kaneko, Yuu, Takada, Eiko, Okazaki, Tetsuya, Enokizno, Takashi, Saito, Takashi, Komaki, Hirofumi, Nakagawa, Eiji, Sugai, Kenji, Sasaki, Masayuki

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Hypoalbuminemia in early onset dentatorubral−pallidoluysian atrophy due to leakage of albumin in multiple organs von Nagai, Shigehiro, Saito, Yoshiaki, Endo, Yukari, Saito, Takashi, Sugai, Kenji, Ishiyama, Akihiko, Komaki, Hirofumi, Nakagawa, Eiji, Sasaki, Masayuki, Ito, Kimiteru, Saito, Yuko, Sukigara, Sayuri, Ito, Masayuki, Goto, Yu-ichi, Ito, Shuichi, Matsuoka, Kentaro

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Clinical Significance of Microcalcifications Detection in Invasive Breast Carcinoma von Hashimoto, Yuki, Murata, Aya, Miyamoto, Naoki, Takamori, Toshihiro, Hosoda, Yuta, Endo, Yukari, Kodani, Yuka, Sato, Kengo, Hosoya, Keiko, Ishiguro, Kiyosuke, Hirooka, Yasuaki

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Muscle glycogen breakdown and lactate metabolism during intensive exercise in Thoroughbred horses von Kitaoka, Yu, Endo, Yukari, Mukai, Kazutaka, Aida, Hiroko, Hiraga, Atsushi, Hatta, Hideo

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Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels von Endo, Yukari, Noguchi, Satoru, Hara, Yuji, Hayashi, Yukiko K, Motomura, Kazushi, Miyatake, Satoko, Murakami, Nobuyuki, Tanaka, Satsuki, Yamashita, Sumimasa, Kizu, Rika, Bamba, Masahiro, Goto, Yu-Ichi, Matsumoto, Naomichi, Nonaka, Ikuya, Nishino, Ichizo

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DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan von Dong, Mingrui, Noguchi, Satoru, Endo, Yukari, Hayashi, Yukiko K, Yoshida, Shinobu, Nonaka, Ikuya, Nishino, Ichizo

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Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy von Endo, Yukari, Groom, Linda, Wang, Sabrina M, Pannia, Emanuela, Griffiths, Nigel W, Van Gennip, Jenica L M, Ciruna, Brian, Laporte, Jocelyn, Dirksen, Robert T, Dowling, James J

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Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies von Liang, Wen-Chen, Uruha, Akinori, Suzuki, Shigeaki, Murakami, Nobuyuki, Takeshita, Eri, Chen, Wan-Zi, Jong, Yuh-Jyh, Endo, Yukari, Komaki, Hirofumi, Fujii, Tatsuya, Kawano, Yutaka, Mori-Yoshimura, Madoka, Oya, Yasushi, Xi, Jianying, Zhu, Wenhua, Zhao, Chongbo, Watanabe, Yurika, Ikemoto, Keisuke, Nishikawa, Atsuko, Hamanaka, Kohei, Mitsuhashi, Satomi, Suzuki, Norihiro, Nishino, Ichizo

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The Association between Absence of Abdominal Pain and Mortality in Lower Intestinal Perforation in Patients with Autoimmune Rheumatic Diseases von Sakamoto, Kazuhiro, Ando, Taiki, Kawano, Shingo, Abe, Yoshiyuki, Endo, Yukari, Tamura, Naoto

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