論文 - 石浦 浩之
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Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing 査読
Koichiro Doi, Taku Monjo, Pham H. Hoang, Jun Yoshimura, Hideaki Yurino, Jun Mitsui, Hiroyuki Ishiura, Yuji Takahashi, Yaeko Ichikawa, Jun Goto, Shoji Tsuji, Shinichi Morishita
BIOINFORMATICS 30 ( 6 ) 815 - 822 2014年3月
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Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan 査読
Megumi Yamada, Masaki Tanaka, Mari Takagi, Seiju Kobayashi, Yoshiharu Taguchi, Shutaro Takashima, Kortaro Tanaka, Tetsuo Touge, Hiroyuki Hatsuta, Shigeo Murayama, Yuichi Hayashi, Masayuki Kaneko, Hiroyuki Ishiura, Jun Mitsui, Naoki Atsuta, Gen Sobue, Nobuyuki Shimozawa, Takashi Inuzuka, Shoji Tsuji, Isao Hozumi
NEUROLOGY 82 ( 8 ) 705 - 712 2014年2月
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Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12 査読
Guida Landoure, Peng-Peng Zhu, Charles M. Lourenco, Janel O. Johnson, Camilo Toro, Katherine V. Bricceno, Carlo Rinaldi, Katherine G. Meilleur, Modibo Sangare, Oumarou Diallo, Tyler M. Pierson, Hiroyuki Ishiura, Shoji Tsuji, Nichole Hein, John K. Fink, Marion Stoll, Garth Nicholson, Michael A. Gonzalez, Fiorella Speziani, Alexandra Duerr, Giovanni Stevanin, Leslie G. Biesecker, John Accardi, Dennis M. D. Landis, William A. Gahl, Bryan J. Traynor, Wilson Marques, Stephan Zuechner, Craig Blackstone, Kenneth H. Fischbeck, Barrington G. Burnett
HUMAN MUTATION 34 ( 10 ) 1357 - 1360 2013年10月
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Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1 査読
Yaeko Ichikawa, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Shunsuke Kobayashi, Hiroshi Takuma, Ichiro Kanazawa, Koichiro Doi, Jun Yoshimura, Shinichi Morishita, Jun Goto, Shoji Tsuji
JOURNAL OF THE NEUROLOGICAL SCIENCES 331 ( 1-2 ) 158 - 160 2013年8月
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[Present efforts in the medical genome center at the University of Tokyo Hospital]. 査読
Mitsui J, Ishiura H, Tsuji S
Brain and nerve = Shinkei kenkyu no shinpo 65 ( 3 ) 247 - 255 2013年3月
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Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients 査読
Atsushi Ishii, Yoshiaki Saito, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Hidee Arai, Sumimasa Yamashita, Sadami Kimura, Hirokazu Oguni, Shinichi Morishita, Shoji Tsuji, Masayuki Sasaki, Shinichi Hirose
PLoS ONE 8 ( 2 ) e56120 2013年2月
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石浦 浩之, 辻 省次
臨床神経学 53 ( 11 ) 1203 - 1205 2013年
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A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55) 査読
Haruo Shimazaki, Yoshihisa Takiyama, Hiroyuki Ishiura, Chika Sakai, Yuichi Matsushima, Hideyuki Hatakeyama, Junko Honda, Kumi Sakoe, Tametou Naoi, Michito Namekawa, Yoko Fukuda, Yuji Takahashi, Jun Goto, Shoji Tsuji, Yu-ichi Goto, Imaharu Nakano
JOURNAL OF MEDICAL GENETICS 49 ( 12 ) 777 - 784 2012年12月
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CSF1R Mutations Identified in Three Families With Autosomal Dominantly Inherited Leukoencephalopathy 査読
Jun Mitsui, Takashi Matsukawa, Hiroyuki Ishiura, Koichiro Higasa, Jun Yoshimura, Taro L. Saito, Budrul Ahsan, Yuji Takahashi, Jun Goto, Atsushi Iwata, Yuki Niimi, Yuuichi Riku, Yoji Goto, Kazuo Mano, Mari Yoshida, Shinichi Morishita, Shoji Tsuji
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS 159B ( 8 ) 951 - 957 2012年12月
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Mutational analysis of familial and sporadic amyotrophic lateral sclerosis with OPTN mutations in Japanese population 査読
Hiroya Naruse, Yuji Takahashi, Tameko Kihira, Sohei Yoshida, Yasumasa Kokubo, Shigeki Kuzuhara, Hiroyuki Ishiura, Masaharu Amagasa, Shigeo Murayama, Shoji Tsuji, Jun Goto
AMYOTROPHIC LATERAL SCLEROSIS 13 ( 6 ) 562 - 566 2012年10月
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Adult-onset Alexander disease with an R66Q mutation in GFAP presented with severe vocal cord paralysis during sleep 査読
Ayumi Hida, Hiroyuki Ishiura, Noritoshi Arai, Hisayo Fukuoka, Kanehiro Hasuo, Jun Goto, Yoshikazu Uesaka, Shoji Tsuji, Sousuke Takeuchi
JOURNAL OF NEUROLOGY 259 ( 10 ) 2234 - 2236 2012年10月
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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study 査読
Elisa Majounie, Alan E. Renton, Kin Mok, Elise G. P. Dopper, Adrian Waite, Sara Rollinson, Adrian Chio, Gabriella Restagno, Nayia Nicolaou, Javier Simon-Sanchez, John C. van Swieten, Yevgeniya Abramzon, Janel O. Johnson, Michael Sendtner, Roger Pamphlett, Richard W. Orrell, Simon Mead, Katie C. Sidle, Henry Houlden, Jonathan D. Rohrer, Karen E. Morrison, Hardev Pall, Kevin Talbot, Olaf Ansorge, Dena G. Hernandez, Sampath Arepalli, Mario Sabatelli, Gabriele Mora, Massimo Corbo, Fabio Giannini, Andrea Calvo, Elisabet Englund, Giuseppe Borghero, Gian Luca Foris, Anne M. Remes, Hannu Laaksovirta, Leo McCluskey, John Q. Trojanowski, Vivianna M. Van Deerlin, Gerard D. Schellenberg, Michael A. Nalls, Vivian E. Drory, Chin-Song Lu, Tu-Hsueh Yeh, Hiroyuki Ishiura, Yuji Takahashi, Shoji Tsuji, Isabelle Le Ber, Alexis Brice, Carsten Drepper, Nigel Williams, Janine Kirby, Pamela Shaw, John Hardy, Pentti J. Tienari, Peter Heutink, Huw R. Morris, Stuart Pickering-Brown, Bryan J. Traynor
LANCET NEUROLOGY 11 ( 4 ) 323 - 330 2012年4月
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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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シンポジウム１３‐３ 次世代シーケンサーによる神経疾患の解明 遺伝性神経疾患の研究‐Ｐｏｓｔｅｒｉｏｒ ｃｏｌｕｍｎ ａｔａｘｉａ ｗｉｔｈ ｒｅｔｉｎｉｔｉｓ ｐｉｇｍｅｎｔｏｓａ‐ 査読
石浦 浩之, 辻 省次
臨床神経学 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