Causative variant profile of collagen VI-related dystrophy in Japan von Inoue, Michio, Saito, Yoshihiko, Yonekawa, Takahiro, Ogawa, Megumu, Iida, Aritoshi, Nishino, Ichizo, Noguchi, Satoru

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Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice von YONEKAWA, Takahiro, MALICDAN, May Christine V, CHO, Anna, HAYASHI, Yukiko K, NONAKA, Ikuya, MINE, Toshiki, YAMAMOTO, Takeshi, NISHINO, Ichizo, NOGUCHI, Satoru

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POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan von Walimbe, Ameya S, Okuma, Hidehiko, Joseph, Soumya, Yang, Tiandi, Yonekawa, Takahiro, Hord, Jeffrey M, Venzke, David, Anderson, Mary E, Torelli, Silvia, Manzur, Adnan, Devereaux, Megan, Cuellar, Marco, Prouty, Sally, Ocampo Landa, Saul, Yu, Liping, Xiao, Junyu, Dixon, Jack E, Muntoni, Francesco, Campbell, Kevin P

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Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5′UTR and founder allele von 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

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Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy von Sakamoto, Masamune, Iwama, Kazuhiro, Sasaki, Masayuki, Ishiyama, Akihiko, Komaki, Hirofumi, Saito, Takashi, Takeshita, Eri, Shimizu-Motohashi, Yuko, Haginoya, Kazuhiro, Kobayashi, Tomoko, Goto, Tomohide, Tsuyusaki, Yu, Iai, Mizue, Kurosawa, Kenji, Osaka, Hitoshi, Tohyama, Jun, Kobayashi, Yu, Okamoto, Nobuhiko, Suzuki, Yume, Kumada, Satoko, Inoue, Kenji, Mashimo, Hideaki, Arisaka, Atsuko, Kuki, Ichiro, Saijo, Harumi, Yokochi, Kenji, Kato, Mitsuhiro, Inaba, Yuji, Gomi, Yuko, Saitoh, Shinji, Shirai, Kentaro, Morimoto, Masafumi, Izumi, Yuishin, Watanabe, Yoriko, Nagamitsu, Shin-ichiro, Sakai, Yasunari, Fukumura, Shinobu, Muramatsu, Kazuhiro, Ogata, Tomomi, Yamada, Keitaro, Ishigaki, Keiko, Hirasawa, Kyoko, Shimoda, Konomi, Akasaka, Manami, Kohashi, Kosuke, Sakakibara, Takafumi, Ikuno, Masashi, Sugino, Noriko, Yonekawa, Takahiro, Gürsoy, Semra, Cinleti, Tayfun, Kim, Chong Ae, Teik, Keng Wee, Yan, Chan Mei, Haniffa, Muzhirah, Ohba, Chihiro, Ito, Shuuichi, Saitsu, Hirotomo, Saida, Ken, Tsuchida, Naomi, Uchiyama, Yuri, Koshimizu, Eriko, Fujita, Atsushi, Hamanaka, Kohei, Misawa, Kazuharu, Miyatake, Satoko, Mizuguchi, Takeshi, Miyake, Noriko, Matsumoto, Naomichi

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Peripheral nerve abnormalities in pediatric patients with spinal muscular atrophy von Yonekawa, Takahiro, Komaki, Hirofumi, Saito, Yuko, Sugai, Kenji, Sasaki, Masayuki

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Transgenic Monkey Model of the Polyglutamine Diseases Recapitulating Progressive Neurological Symptoms von Tomioka, Ikuo, Ishibashi, Hidetoshi, Minakawa, Eiko N, Motohashi, Hideyuki H, Takayama, Osamu, Saito, Yuko, Popiel, H Akiko, Puentes, Sandra, Owari, Kensuke, Nakatani, Terumi, Nogami, Naotake, Yamamoto, Kazuhiro, Noguchi, Satoru, Yonekawa, Takahiro, Tanaka, Yoko, Fujita, Naoko, Suzuki, Hikaru, Kikuchi, Hisae, Aizawa, Shu, Nagano, Seiichi, Yamada, Daisuke, Nishino, Ichizo, Ichinohe, Noritaka, Wada, Keiji, Kohsaka, Shinichi, Nagai, Yoshitaka, Seki, Kazuhiko

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Successful Hemispherotomy in a Patient with Encephalopathy with Continuous Spikes and Waves during Sleep Related to Neonatal Thalamic Hemorrhage: A Case Report with Intracranial El... von Baba, Shimpei, Okanishi, Tohru, Nozaki, Toshiki, Ichikawa, Naoki, Sakakura, Kazuki, Nishimura, Mitsuyo, Yonekawa, Takahiro, Enoki, Hideo, Fujimoto, Ayataka

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Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele von 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

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Exogenous expression of the glycosyltransferase LARGE1 restores α-dystroglycan matriglycan and laminin binding in rhabdomyosarcoma von Beltrán, Daniel, Anderson, Mary E, Bharathy, Narendra, Settelmeyer, Teagan P, Svalina, Matthew N, Bajwa, Zia, Shern, John F, Gultekin, Sakir H, Cuellar, Marco A, Yonekawa, Takahiro, Keller, Charles, Campbell, Kevin P

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Extremely Severe Complicated Spastic Paraplegia 3A With Neonatal Onset von Yonekawa, Takahiro, MD, PhD, Oya, Yasushi, MD, Higuchi, Yujiro, MD, Hashiguchi, Akihiro, MD, Takashima, Hiroshi, MD, PhD, Sugai, Kenji, MD, PhD, Sasaki, Masayuki, MD, PhD

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Congenital Hypomyelinating Neuropathy Attributable to a De Novo p.Asp61Asn Mutation of the Myelin Protein Zero Gene von Yonekawa, Takahiro, MD, Komaki, Hirofumi, MD, PhD, Saito, Yuko, MD, PhD, Takashima, Hiroshi, MD, PhD, Sasaki, Masayuki, MD, PhD

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Anaphylactic transfusion reaction in homozygous haptoglobin deficiency detected by CD203c expression on basophils von Iwamoto, Shotaro, Yonekawa, Takahiro, Azuma, Eiichi, Fujisawa, Takao, Nagao, Mizuho, Shimada, Eiko, Nakamura, Ryosuke, Teshima, Reiko, Ohishi, Kohshi, Toyoda, Hidemi, Komada, Yoshihiro

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Augmented startle responses in opsoclonus-myoclonus syndrome von Yonekawa, Takahiro, Saito, Yoshiaki, Sakuma, Hiroshi, Sugai, Kenji, Shimizu, Yuko, Inagaki, Masumi, Sasaki, Masayuki

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Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s) von Yonekawa, Takahiro, Nishino, Ichizo

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Hepatitis C virus infection in inclusion body myositis: A case-control study von Uruha, Akinori, Noguchi, Satoru, Hayashi, Yukiko K, Tsuburaya, Rie S, Yonekawa, Takahiro, Nonaka, Ikuya, Nishino, Ichizo

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Clinical and histological findings associated with autoantibodies detected by RNA immunoprecipitation in inflammatory myopathies von Suzuki, Shigeaki, Yonekawa, Takahiro, Kuwana, Masataka, Hayashi, Yukiko K, Okazaki, Yuka, Kawaguchi, Yasushi, Suzuki, Norihiro, Nishino, Ichizo

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Enhancing Learners’ Cross-Cultural Understanding in Language and Culture Class Using InCircle von Uosaki, Noriko, Yonekawa, Takahiro, Yin, Chengjiu

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PIGO variants in a boy with features of Mabry syndrome who also exhibits Fryns syndrome with peripheral neuropathy von Okuda, Taro, Yonekawa, Takahiro, Murakami, Yoshiko, Kinoshita, Taroh, Ito, Takahiro, Matsushita, Kohei, Koike, Yuhki, Inoue, Mikihiro, Uchida, Keiichi, Yodoya, Noriko, Ohashi, Hiroyuki, Sawada, Hirofumi, Iwamoto, Shotaro, Mitani, Yoshihide, Hirayama, Masahiro

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Muscle Growth by Activin Type II Receptor Blocking Ameliorates Weakness in GNE Myopathy Mice von Noguchi, Satoru, Yonekawa, Takahiro, Malicdan, May Christine V, Miyakawa, Miho, Lach‐Trifilieff, Estelle, Nonaka, Ikuya, Nishino, Ichizo

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