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Hongo, Hiroki; Miyawaki, Satoru; Teranishi, Yu; Mitsui, Jun; Katoh, Hiroto; Komura, Daisuke; Tsubota, Kinya; Matsukawa, Takashi; Watanabe, Masakatsu; Kurita, Masakazu; Yoshimura, Jun; Dofuku, Shogo; Ohara, Kenta; Ishigami, Daiichiro; Okano, Atsushi; Kato, Motoi; Hakuno, Fumihiko; Takahashi, Ayaka; Kunita, Akiko; Ishiura, Hiroyuki; Shin, Masahiro; Nakatomi, Hirofumi; Nagao, Toshitaka; Goto, Hiroshi; Takahashi, Shin-Ichiro; Ushiku, Tetsuo; Ishikawa, Shumpei; Okazaki, Mutsumi; Morishita, Shinichi; Tsuji, Shoji; Saito, Nobuhito Share Save Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype-phenotype correlation with targeted deep sequencingTeranishi, Yu; Miyawaki, Satoru; Nakatomi, Hirofumi; Ohara, Kenta; Hongo, Hiroki; Dofuku, Shogo; Okano, Atsushi; Takayanagi, Shunsaku; Ota, Takahiro; Yoshimura, Jun; Qu, Wei; Mitsui, Jun; Morishita, Shinichi; Tsuji, Shoji; Saito, Nobuhito Share Save Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body MyositisIkenaga, Chiseko; Date, Hidetoshi; Kanagawa, Motoi; Mitsui, Jun; Ishiura, Hiroyuki; Yoshimura, Jun; Pinal-Fernandez, Iago; Mammen, Andrew L.; Lloyd, Thomas E.; Tsuji, Shoji; Shimizu, Jun; Toda, Tatsushi; Goto, Jun Share Save Hamster PIWI proteins bind to piRNAs with stage-specific size variations during oocyte maturationIshino, Kyoko; Hasuwa, Hidetoshi; Yoshimura, Jun; Iwasaki, Yuka W.; Nishihara, Hidenori; Seki, Naomi M.; Hirano, Takamasa; Tsuchiya, Marie; Ishizaki, Hinako; Masuda, Harumi; Kuramoto, Tae; Saito, Kuniaki; Sakakibara, Yasubumi; Toyoda, Atsushi; Itoh, Takehiko; Siomi, Mikiko C.; Morishita, Shinichi; Siomi, Haruhiko Share Save Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistanceHosoe, Jun; Miya, Fuyuki; Kadowaki, Hiroko; Fujiwara, Toyofumi; Suzuki, Ken; Kato, Takashi; Waki, Hironori; Sasako, Takayoshi; Aizu, Katsuya; Yamamura, Natsumi; Sasaki, Fusako; Kurano, Makoto; Hara, Kazuo; Tanaka, Masaki; Ishiura, Hiroyuki; Tsuji, Shoji; Honda, Kenjiro; Yoshimura, Jun; Morishita, Shinichi; Matsuzawa, Fumiko; Aikawa, Sei-Ichi; Boroevich, Keith A.; Nangaku, Masaomi; Okada, Yukinori; Tsunoda, Tatsuhiko; Shojima, Nobuhiro; Yamauchi, Toshimasa; Kadowaki, Takashi Share Save Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2Teranishi, Yu; Miyawaki, Satoru; Hongo, Hiroki; Dofuku, Shogo; Okano, Atsushi; Takayanagi, Shunsaku; Ota, Takahiro; Yoshimura, Jun; Qu, Wei; Mitsui, Jun; Nakatomi, Hirofumi; Morishita, Shinichi; Tsuji, Shoji; Saito, Nobuhito Share Save Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosisHongo, Hiroki; Miyawaki, Satoru; Imai, Hideaki; Shimizu, Masahiro; Yagi, Shinichi; Mitsui, Jun; Ishiura, Hiroyuki; Yoshimura, Jun; Doi, Koichiro; Qu, Wei; Teranishi, Yu; Okano, Atsushi; Ono, Hideaki; Nakatomi, Hirofumi; Shimizu, Tsuneo; Morishita, Shinichi; Tsuji, Shoji; Saito, Nobuhito Share Save Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivationKatoh, Kimiko; Aiba, Kaori; Fukushi, Daisuke; Yoshimura, Jun; Suzuki, Yasuyo; Mitsui, Jun; Morishita, Shinichi; Tuji, Shoji; Yamada, Kenichiro; Wakamatsu, Nobuaki Share Save Share Save Ataxic phenotype with altered Cav3.1 channel property in a mouse model for spinocerebellar ataxia 42Hashiguchi, Shunta; Doi, Hiroshi; Kunii, Misako; Nakamura, Yukihiro; Shimuta, Misa; Suzuki, Etsuko; Koyano, Shigeru; Okubo, Masaki; Kishida, Hitaru; Shiina, Masaaki; Ogata, Kazuhiro; Hirashima, Fumiko; Inoue, Yukichi; Kubota, Shun; Hayashi, Noriko; Nakamura, Haruko; Takahashi, Keita; Katsumoto, Atsuko; Tada, Mikiko; Tanaka, Kenichi; Sasaoka, Toshikuni; Miyatake, Satoko; Miyake, Noriko; Saitsu, Hirotomo; Sato, Nozomu; Ozaki, Kokoro; Ohta, Kiyobumi; Yokota, Takanori; Mizusawa, Hidehiro; Mitsui, Jun; Ishiura, Hiroyuki; Yoshimura, Jun; Morishita, Shinichi; Tsuji, Shoji; Takeuchi, Hideyuki; Ishikawa, Kinya; Matsumoto, Naomichi; Ishikawa, Taro; Tanaka, Fumiaki Share Save Share Save Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping diseaseIshiura, Hiroyuki; Shibata, Shota; Yoshimura, Jun; Suzuki, Yuta; Qu, Wei; Doi, Koichiro; Almansour, M. Asem; Kikuchi, Junko Kanda; Taira, Makiko; Mitsui, Jun; Takahashi, Yuji; Ichikawa, Yaeko; Mano, Tatsuo; Iwata, Atsushi; Harigaya, Yasuo; Matsukawa, Miho Kawabe; Matsukawa, Takashi; Tanaka, Masaki; Shirota, Yuichiro; Ohtomo, Ryo; Kowa, Hisatomo; Date, Hidetoshi; Mitsue, Aki; Hatsuta, Hiroyuki; Morimoto, Satoru; Murayama, Shigeo; Shiio, Yasushi; Saito, Yuko; Mitsutake, Akihiko; Kawai, Mizuho; Sasaki, Takuya; Sugiyama, Yusuke; Hamada, Masashi; Ohtomo, Gaku; Terao, Yasuo; Nakazato, Yoshihiko; Takeda, Akitoshi; Sakiyama, Yoshio; Umeda-Kameyama, Yumi; Shinmi, Jun; Ogata, Katsuhisa; Kohno, Yutaka; Lim, Shen-Yang; Tan, Ai Huey; Shimizu, Jun; Goto, Jun; Nishino, Ichizo; Toda, Tatsushi; Morishita, Shinichi; Tsuji, Shoji Share Save Recompleting the Caenorhabditis elegans genomeYoshimura, Jun; Ichikawa, Kazuki; Shoura, Massa J.; Artiles, Karen L.; Gabdank, Idan; Wahba, Lamia; Smith, Cheryl L.; Edgley, Mark L.; Rougvie, Ann E.; Fire, Andrew Z.; Morishita, Shinichi; Schwarz, Erich M. Share Save Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletionIchinose, Yuta; Ishiura, Hiroyuki; Tanaka, Masaki; Yoshimura, Jun; Doi, Koichiro; Umeda, Takako; Yamauchi, Hajime; Tsuchiya, Mai; Koh, Kishin; Yamashiro, Nobuo; Mitsui, Jun; Goto, Jun; Onishi, Hiroshi; Ohtsuka, Toshihisa; Shindo, Kazumasa; Morishita, Shinichi; Tsuji, Shoji; Takiyama, Yoshihisa Share Save Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALSNaruse, Hiroya; Ishiura, Hiroyuki; Mitsui, Jun; Takahashi, Yuji; Matsukawa, Takashi; Tanaka, Masaki; Doi, Koichiro; Yoshimura, Jun; Morishita, Shinichi; Goto, Jun; Toda, Tatsushi; Tsuji, Shoji Share Save Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathyHiguchi, Yujiro; Okunushi, Ryuta; Hara, Taichi; Hashiguchi, Akihiro; Yuan, Junhui; Yoshimura, Akiko; Murayama, Kei; Ohtake, Akira; Ando, Masahiro; Hiramatsu, Yu; Ishihara, Satoshi; Tanabe, Hajime; Okamoto, Yuji; Matsuura, Eiji; Ueda, Takehiro; Toda, Tatsushi; Yamashita, Sumimasa; Yamada, Kenichiro; Koide, Takashi; Yaguchi, Hiroaki; Mitsui, Jun; Ishiura, Hiroyuki; Yoshimura, Jun; Doi, Koichiro; Morishita, Shinichi; Sato, Ken; Nakagawa, Masanori; Yamaguchi, Masamitsu; Tsuji, Shoji; Takashima, Hiroshi Share Save Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosisTohnai, Genki; Nakamura, Ryoichi; Sone, Jun; Nakatochi, Masahiro; Yokoi, Daichi; Katsuno, Masahisa; Watanabe, Hazuki; Watanabe, Hirohisa; Ito, Mizuki; Li, Yuanzhe; Izumi, Yuishin; Morita, Mitsuya; Taniguchi, Akira; Kano, Osamu; Oda, Masaya; Kuwabara, Satoshi; Abe, Koji; Aiba, Ikuko; Okamoto, Koichi; Mizoguchi, Kouichi; Hasegawa, Kazuko; Aoki, Masashi; Hattori, Nobutaka; Onodera, Osamu; Naruse, Hiroya; Mitsui, Jun; Takahashi, Yuji; Goto, Jun; Ishiura, Hiroyuki; Morishita, Shinichi; Yoshimura, Jun; Doi, Koichiro; Tsuji, Shoji; Nakashima, Kenji; Kaji, Ryuji; Atsuta, Naoki; Sobue, Gen Share Save Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutationNaruse, Hiroya; Ishiura, Hiroyuki; Mitsui, Jun; Date, Hidetoshi; Takahashi, Yuji; Matsukawa, Takashi; Tanaka, Masaki; Ishii, Akiko; Tamaoka, Akira; Hokkoku, Keiichi; Sonoo, Masahiro; Segawa, Mari; Ugawa, Yoshikazu; Doi, Koichiro; Yoshimura, Jun; Morishita, Shinichi; Goto, Jun; Tsuji, Shoji Share Save 
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