論文 - 石浦 浩之
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Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12 査読
Gladys Montenegro, Adriana P. Rebelo, James Connell, Rachel Allison, Carla Babalini, Michela D'Aloia, Pasqua Montieri, Rebecca Schuele, Hiroyuki Ishiura, Justin Price, Alleene Strickland, Michael A. Gonzalez, Lisa Baumbach-Reardon, Tine Deconinck, Jia Huang, Giorgio Bernardi, Jeffery M. Vance, Mark T. Rogers, Shoji Tsuji, Peter De Jonghe, Margaret A. Pericak-Vance, Ludger Schoels, Antonio Orlacchio, Evan Reid, Stephan Zuechner
JOURNAL OF CLINICAL INVESTIGATION 122 ( 2 ) 538 - 544 2012年2月
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Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease 査読
Meiko Hashimoto Maeda, Jun Mitsui, Bing-Wen Soong, Yuji Takahashi, Hiroyuki Ishiura, Shin Hayashi, Yuichiro Shirota, Yaeko Ichikawa, Hideyuki Matsumoto, Makoto Arai, Tomoko Okamoto, Sahoko Miyama, Jun Shimizu, Johji Inazawa, Jun Goto, Shoji Tsuji
ANNALS OF NEUROLOGY 71 ( 1 ) 84 - 92 2012年1月
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Hypertrophic Pachymeningitis and Tracheobronchial Stenosis in IgG4-related Disease: Case Presentation and Literature Review 査読
Hiroyuki Yamashita, Yuko Takahashi, Hiroyuki Ishiura, Toshikazu Kano, Hiroshi Kaneko, Akio Mimori
INTERNAL MEDICINE 51 ( 8 ) 935 - 941 2012年
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Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5 査読
Takashi Matsukawa, Xuemin Wang, Rui Liu, Noel C. Wortham, Yuko Onuki, Akatsuki Kubota, Ayumi Hida, Hisatomo Kowa, Yoko Fukuda, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Shigeki Aoki, Shunya Takizawa, Jun Shimizu, Jun Goto, Christopher G. Proud, Shoji Tsuji
NEUROGENETICS 12 ( 3 ) 259 - 261 2011年8月
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Next-generation analysis on hereditary neurodegenerative disorders using next-generation sequencers 査読
Hiroyuki Ishiura, Shoji Tsuji
Clinical Neurology 51 ( 11 ) 970 - 972 2011年
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Dominant Mutations in RP1L1 Are Responsible for Occult Macular Dystrophy 査読
Masakazu Akahori, Kazushige Tsunoda, Yozo Miyake, Yoko Fukuda, Hiroyuki Ishiura, Shoji Tsuji, Tomoaki Usui, Tetsuhisa Hatase, Makoto Nakamura, Hisao Ohde, Takeshi Itabashi, Haru Okamoto, Yuichiro Takada, Takeshi Iwata
AMERICAN JOURNAL OF HUMAN GENETICS 87 ( 3 ) 424 - 429 2010年9月
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Multiplexed resequencing analysis to identify rare variants in pooled DNA with barcode indexing using next-generation sequencer 査読
Jun Mitsui, Yoko Fukuda, Kyo Azuma, Hirokazu Tozaki, Hiroyuki Ishiura, Yuji Takahashi, Jun Goto, Shoji Tsuji
JOURNAL OF HUMAN GENETICS 55 ( 7 ) 448 - 455 2010年7月
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A Case of Atypical Amyloid Polyneuropathy with Predominant Upper-limb Involvement with the Diagnosis Unexpectedly Found at Lung Operation 査読
Yuichiro Shirota, Atsushi Iwata, Hiroyuki Ishiura, Meiko Hashimoto, Jun Goto, Jun Shimizu, Ritsuko Hanajima, Jun Nakajima, Yutaka Takazawa, Shoji Tsuji
INTERNAL MEDICINE 49 ( 15 ) 1627 - 1631 2010年
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SNP Haplotype Mapping in a Small ALS Family 査読
Katherine A. Dick Krueger, Shoji Tsuji, Yoko Fukuda, Yuji Takahashi, Jun Goto, Jun Mitsui, Hiroyuki Ishiura, Joline C. Dalton, Michael B. Miller, John W. Day, Laura P. W. Ranum
PLOS ONE 4 ( 5 ) e5687 2009年5月