論文 - 小野寺 理
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Bunina bodies in motor and non-motor neurons revisited: A pathological study of an ALS patient after long-term survival on a respirator 査読
Tadashi Kimura, Haishan Jiang, Takuya Konno, Makiko Seto, Keisuke Iwanaga, Mitsuhiro Tsujihata, Akira Satoh, Osamu Onodera, Akiyoshi Kakita, Hitoshi Takahashi
NEUROPATHOLOGY 34 ( 4 ) 392 - 397 2014年8月
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Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations 査読
Y. -J. Fu, I. Aida, M. Tada, M. Tada, Y. Toyoshima, S. Takeda, T. Nakajima, H. Naito, M. Nishizawa, O. Onodera, A. Kakita, H. Takahashi
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY 40 ( 5 ) 551 - 563 2014年8月
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A 3-year cohort study of the natural history of spinocerebellar ataxia type 6 in Japan 査読
Kenichi Yasui, Ichiro Yabe, Kunihiro Yoshida, Kazuaki Kanai, Kimihito Arai, Mizuki Ito, Osamu Onodera, Shigeru Koyano, Eiji Isozaki, Setsu Sawai, Yoshiki Adachi, Hidenao Sasaki, Satoshi Kuwabara, Takamichi Hattori, Gen Sobue, Hidehiro Mizusawa, Shoji Tsuji, Masatoyo Nishizawa, Kenji Nakashima
ORPHANET JOURNAL OF RARE DISEASES 9 118 2014年7月
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A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories 査読
Chizuru Akimoto, Alexander E. Volk, Marka van Blitterswijk, Marleen Van den Broeck, Claire S. Leblond, Serge Lumbroso, William Camu, Birgit Neitzel, Osamu Onodera, Wouter van Rheenen, Susana Pinto, Markus Weber, Bradley Smith, Melanie Proven, Kevin Talbot, Pamela Keagle, Alessandra Chesi, Antonia Ratti, Julie van der Zee, Helena Alstermark, Anna Birve, Daniela Calini, Angelica Nordin, Daniela C. Tradowsky, Walter Just, Hussein Daoud, Sabrina Angerbauer, Mariely DeJesus-Hernandez, Takuya Konno, Anjali Lloyd-Jani, Mamede de Carvalho, Kevin Mouzat, John E. Landers, Jan H. Veldink, Vincenzo Silani, Aaron D. Gitler, Christopher E. Shaw, Guy A. Rouleau, Leonard H. van den Berg, Christine Van Broeckhoven, Rosa Rademakers, Peter M. Andersen, Christian Kubisch
JOURNAL OF MEDICAL GENETICS 51 ( 6 ) 419 - 424 2014年6月
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Minor splicing pathway is not minor any more: Implications for the pathogenesis of motor neuron diseases 査読
Osamu Onodera, Tomohiko Ishihara, Atsushi Shiga, Yuko Ariizumi, Akio Yokoseki, Masatoyo Nishizawa
NEUROPATHOLOGY 34 ( 1 ) 99 - 107 2014年2月
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IP3 receptors in neurodegenerative disorders: Spinocerebellar ataxias and Huntington’s and Alzheimer’s diseases 査読
Masayoshi Tada, Masatoyo Nishizawa, Osamu Onodera
Pathologies of Calcium Channels 579 - 600 2014年1月
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Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS 査読
Takuya Konno, Masayoshi Tada, Mari Tada, Akihide Koyama, Hiroaki Nozaki, Yasuo Harigaya, Jin Nishimiya, Akiko Matsunaga, Nobuaki Yoshikura, Kenji Ishihara, Musashi Arakawa, Aiko Isami, Kenichi Okazaki, Hideaki Yokoo, Kyoko Itoh, Makoto Yoneda, Mitsuru Kawamura, Takashi Inuzuka, Hitoshi Takahashi, Masatoyo Nishizawa, Osamu Onodera, Akiyoshi Kakita, Takeshi Ikeuchi
NEUROLOGY 82 ( 2 ) 139 - 148 2014年1月
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Aberration of the spliceosome in amyotrophic lateral sclerosis 査読
Tomohiko Ishihara, Akiyoshi Kakita, Hitoshi Takahashi, Osamu Onodera, Masatoyo Nishizawa
Clinical Neurology 54 ( 12 ) 1155 - 1157 2014年
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Early clinical features of patients with progressive supranuclear palsy with predominant cerebellar ataxia 査読
Masato Kanazawa, Mari Tada, Osamu Onodera, Hitoshi Takahashi, Masatoyo Nishizawa, Takayoshi Shimohata
PARKINSONISM & RELATED DISORDERS 19 ( 12 ) 1149 - 1151 2013年12月
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ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19 査読
Yuji Takahashi, Yoko Fukuda, Jun Yoshimura, Atsushi Toyoda, Kari Kurppa, Hiroyoko Moritoyo, Veronique V. Belzil, Patrick A. Dion, Koichiro Higasa, Koichiro Doi, Hiroyuki Ishiura, Jun Mitsui, Hidetoshi Date, Budrul Ahsan, Takashi Matsukawa, Yaeko Ichikawa, Takashi Moritoyo, Mayumi Ikoma, Tsukasa Hashimoto, Fumiharu Kimura, Shigeo Murayama, Osamu Onodera, Masatoyo Nishizawa, Mari Yoshida, Naoki Atsuta, Gen Sobue, Jennifer A. Fifita, Kelly L. Williams, Ian P. Blair, Garth A. Nicholson, Paloma Gonzalez-Perez, Robert H. Brown, Masahiro Nomoto, Klaus Elenius, Guy A. Rouleau, Asao Fujiyama, Shinichi Morishita, Jun Goto, Shoji Tsuji
AMERICAN JOURNAL OF HUMAN GENETICS 93 ( 5 ) 900 - 905 2013年11月
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Patient with insidious hypoactive delirium associated with pregabalin 査読
Naomi Mezaki, Tomohiko Ishihara, Tetsutaro Ozawa, Ryoko Takeuchi, Osamu Onodera, Takayoshi Shimohata, Masatoyo Nishizawa
Neurology and Clinical Neuroscience (Online Early View) 2013年9月
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Sporadic ALS with compound heterozygous mutations in the SQSTM1 gene 査読
Hiroshi Shimizu, Yasuko Toyoshima, Atsushi Shiga, Akio Yokoseki, Keiko Arakawa, Yumi Sekine, Takayoshi Shimohata, Takeshi Ikeuchi, Masatoyo Nishizawa, Akiyoshi Kakita, Osamu Onodera, Hitoshi Takahashi
Acta Neuropathologica 126 ( 3 ) 453 - 459 2013年9月
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Inhibition of SMG-8, a subunit of SMG-1 kinase, ameliorates nonsense-mediated mRNA decay-exacerbated mutant phenotypes without cytotoxicity 査読
Fusako Usuki, Akio Yamashita, Tadafumi Shiraishi, Atsushi Shiga, Osamu Onodera, Itsuro Higuchi, Shigeo Ohno
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 110 ( 37 ) 15037 - 15042 2013年9月
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Mutations in COQ2 in Familial and Sporadic Multiple-System Atrophy 査読
Jun Mitsui, Takashi Matsukawa, Hiroyuki Ishiura, Yoko Fukuda, Yaeko Ichikawa, Hidetoshi Date, Budrul Ahsan, Yasuo Nakahara, Yoshio Momose, Yuji Takahashi, Atsushi Iwata, Jun Goto, Yorihiro Yamamoto, Makiko Komata, Katsuhiko Shirahige, Kenju Hara, Akiyoshi Kakita, Mitsunori Yamada, Hitoshi Takahashi, Osamu Onodera, Masatoyo Nishizawa, Hiroshi Takashima, Ryozo Kuwano, Hirohisa Watanabe, Mizuki Ito, Gen Sobue, Hiroyuki Soma, Ichiro Yabe, Hidenao Sasaki, Masashi Aoki, Kinya Ishikawa, Hidehiro Mizusawa, Kazuaki Kanai, Takamichi Hattori, Satoshi Kuwabara, Kimihito Arai, Shigeru Koyano, Yoshiyuki Kuroiwa, Kazuko Hasegawa, Tatsuhiko Yuasa, Kenichi Yasui, Kenji Nakashima, Hijiri Ito, Yuishin Izumi, Ryuji Kaji, Takeo Kato, Susumu Kusunoki, Yasushi Osaki, Masahiro Horiuchi, Tomoyoshi Kondo, Shigeo Murayama, Nobutaka Hattori, Mitsutoshi Yamamoto, Miho Murata, Wataru Satake, Tatsushi Toda, Alexandra Duerr, Alexis Brice, Alessandro Filla, Thomas Klockgether, Ullrich Wuellner, Garth Nicholson, Sid Gilman, Clifford W. Shults, Caroline M. Tanner, Walter A. Kukull, Virginia M. -Y. Lee, Eliezer Masliah, Phillip A. Low, Paola Sandroni, John Q. Trojanowski, Laurie Ozelius, Tatiana Foroud, Shoji Tsuji
NEW ENGLAND JOURNAL OF MEDICINE 369 ( 3 ) 233 - 244 2013年7月
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[Hereditary cerebral small-vessel disease]. 査読
Nozaki H, Nishizawa M, Onodera O
Nihon rinsho. Japanese journal of clinical medicine 71 ( 3 ) 545 - 554 2013年3月
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Hereditary Diffuse Leukoencephalopathy with Spheroids (HDLS): Clinical Characteristics and Molecular Analyses of CSF-1R 査読
Konno Takuya, Tada Masayoshi, Koyama Akihide, Tada Mari, Sugai Akihiro, Nozaki Hiroaki, Matsunaga Akiko, Harigaya Yasuo, Nishimiya Jin, Ishihara Kenji, Yoneda Makoto, Kakita Akiyoshi, Takahashi Hitoshi, Kawamura Mitsuru, Onodera Osamu, Nishizawa Masatoyo, Ikeuchi Takeshi
NEUROLOGY 80 2013年2月
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Early Clinical Features in Japanese Patients with Pathologically Proven Progressive Supranuclear Palsy with Cerebellar Ataxia 査読
Masato Kanazawa, Takayoshi Shimohata, Mari Tada, Osamu Onodera, Hitoshi Takahashi, Masatoyo Nishizawa
NEUROLOGY 80 2013年2月
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Molecular pathogenesis of ALS in TDP43 era 査読
Osamu Onodera
Clinical Neurology 53 ( 11 ) 1077 - 1079 2013年
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Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72 査読
Takuya Konno, Atsushi Shiga, Akira Tsujino, Akihiro Sugai, Taisuke Kato, Kazuaki Kanai, Akio Yokoseki, Hiroto Eguchi, Satoshi Kuwabara, Masatoyo Nishizawa, Hitoshi Takahashi, Osamu Onodera
Journal of Neurology, Neurosurgery and Psychiatry 84 ( 4 ) 398 - 401 2013年
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Alteration of POLDIP3 Splicing Associated with Loss of Function of TDP-43 in Tissues Affected with ALS 査読
Atsushi Shiga, Tomohiko Ishihara, Akinori Miyashita, Misaki Kuwabara, Taisuke Kato, Norihiro Watanabe, Akie Yamahira, Chigusa Kondo, Akio Yokoseki, Masuhiro Takahashi, Ryozo Kuwano, Akiyoshi Kakita, Masatoyo Nishizawa, Hitoshi Takahashi, Osamu Onodera
PLOS ONE 7 ( 8 ) e43120 2012年8月