Human genetic variation database, a reference database of genetic variations in the Japanese population von Higasa, Koichiro, Miyake, Noriko, Yoshimura, Jun, Okamura, Kohji, Niihori, Tetsuya, Saitsu, Hirotomo, Doi, Koichiro, Shimizu, Masakazu, Nakabayashi, Kazuhiko, Aoki, Yoko, Tsurusaki, Yoshinori, Morishita, Shinichi, Kawaguchi, Takahisa, Migita, Osuke, Nakayama, Keiko, Nakashima, Mitsuko, Mitsui, Jun, Narahara, Maiko, Hayashi, Keiko, Funayama, Ryo, Yamaguchi, Daisuke, Ishiura, Hiroyuki, Ko, Wen-Ya, Hata, Kenichiro, Nagashima, Takeshi, Yamada, Ryo, Matsubara, Yoichi, Umezawa, Akihiro, Tsuji, Shoji, Matsumoto, Naomichi, Matsuda, Fumihiko

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Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease von Ishiura, 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

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Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy von Ishiura, Hiroyuki, Doi, Koichiro, Mitsui, Jun, Yoshimura, Jun, Matsukawa, Miho Kawabe, Fujiyama, Asao, Toyoshima, Yasuko, Kakita, Akiyoshi, Takahashi, Hitoshi, Suzuki, Yutaka, Sugano, Sumio, Qu, Wei, Ichikawa, Kazuki, Yurino, Hideaki, Higasa, Koichiro, Shibata, Shota, Mitsue, Aki, Tanaka, Masaki, Ichikawa, Yaeko, Takahashi, Yuji, Date, Hidetoshi, Matsukawa, Takashi, Kanda, Junko, Nakamoto, Fumiko Kusunoki, Higashihara, Mana, Abe, Koji, Koike, Ryoko, Sasagawa, Mutsuo, Kuroha, Yasuko, Hasegawa, Naoya, Kanesawa, Norio, Kondo, Takayuki, Hitomi, Takefumi, Tada, Masayoshi, Takano, Hiroki, Saito, Yutaka, Sanpei, Kazuhiro, Onodera, Osamu, Nishizawa, Masatoyo, Nakamura, Masayuki, Yasuda, Takeshi, Sakiyama, Yoshio, Otsuka, Mieko, Ueki, Akira, Kaida, Ken-ichi, Shimizu, Jun, Hanajima, Ritsuko, Hayashi, Toshihiro, Terao, Yasuo, Inomata-Terada, Satomi, Hamada, Masashi, Shirota, Yuichiro, Kubota, Akatsuki, Ugawa, Yoshikazu, Koh, Kishin, Takiyama, Yoshihisa, Ohsawa-Yoshida, Natsumi, Ishiura, Shoichi, Yamasaki, Ryo, Tamaoka, Akira, Akiyama, Hiroshi, Otsuki, Taisuke, Sano, Akira, Ikeda, Akio, Goto, Jun, Morishita, Shinichi, Tsuji, Shoji

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Genomic aspects of sporadic neurodegenerative diseases von Mitsui, Jun, Tsuji, Shoji

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Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis von Ikenaga, 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

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A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia von Kurihara, Masanori, Ishiura, Hiroyuki, Bannai, Taro, Mitsui, Jun, Yoshimura, Jun, Morishita, Shinichi, Hayashi, Toshihiro, Shimizu, Jun, Toda, Tatsushi, Tsuji, Shoji

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Copper Deficiency in Wilson's Disease with a Normal Zinc Value von Ueda, Masayuki, Katsuse, Kazuto, Kakumoto, Toshiyuki, Kobayashi, Satoshi, Ishiura, Hiroyuki, Mitsui, Jun, Toda, Tatsushi

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COQ2 V393A confers high risk susceptibility for multiple system atrophy in East Asian population von Porto, Kristine Joyce, Hirano, Makito, Mitsui, Jun, Chikada, Ayaka, Matsukawa, Takashi, Ishiura, Hiroyuki, Toda, Tatsushi, Kusunoki, Susumu, Tsuji, Shoji

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Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2 von Higuchi, Yujiro, Hashiguchi, Akihiro, Yuan, Junhui, Yoshimura, Akiko, Mitsui, Jun, Ishiura, Hiroyuki, Tanaka, Masaki, Ishihara, Satoshi, Tanabe, Hajime, Nozuma, Satoshi, Okamoto, Yuji, Matsuura, Eiji, Ohkubo, Ryuichi, Inamizu, Saeko, Shiraishi, Wataru, Yamasaki, Ryo, Ohyagi, Yasumasa, Kira, Jun-ichi, Oya, Yasushi, Yabe, Hayato, Nishikawa, Noriko, Tobisawa, Shinsuke, Matsuda, Nozomu, Masuda, Masayuki, Kugimoto, Chiharu, Fukushima, Kazuhiro, Yano, Satoshi, Yoshimura, Jun, Doi, Koichiro, Nakagawa, Masanori, Morishita, Shinichi, Tsuji, Shoji, Takashima, Hiroshi

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CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia von Williams, Kelly L., Topp, Simon, Yang, Shu, Smith, Bradley, Fifita, Jennifer A., Warraich, Sadaf T., Zhang, Katharine Y., Farrawell, Natalie, Vance, Caroline, Hu, Xun, Chesi, Alessandra, Leblond, Claire S., Lee, Albert, Rayner, Stephanie L., Sundaramoorthy, Vinod, Dobson-Stone, Carol, Molloy, Mark P., van Blitterswijk, Marka, Dickson, Dennis W., Petersen, Ronald C., Graff-Radford, Neill R., Boeve, Bradley F., Murray, Melissa E., Pottier, Cyril, Don, Emily, Winnick, Claire, McCann, Emily P., Hogan, Alison, Daoud, Hussein, Levert, Annie, Dion, Patrick A., Mitsui, Jun, Ishiura, Hiroyuki, Takahashi, Yuji, Goto, Jun, Kost, Jason, Gellera, Cinzia, Gkazi, Athina Soragia, Miller, Jack, Stockton, Joanne, Brooks, William S., Boundy, Karyn, Polak, Meraida, Muñoz-Blanco, José Luis, Esteban-Pérez, Jesús, Rábano, Alberto, Hardiman, Orla, Morrison, Karen E., Ticozzi, Nicola, Silani, Vincenzo, de Belleroche, Jacqueline, Glass, Jonathan D., Kwok, John B. J., Guillemin, Gilles J., Chung, Roger S., Tsuji, Shoji, Brown, Robert H., García-Redondo, Alberto, Rademakers, Rosa, Landers, John E., Gitler, Aaron D., Rouleau, Guy A., Cole, Nicholas J., Yerbury, Justin J., Atkin, Julie D., Shaw, Christopher E., Nicholson, Garth A., Blair, Ian P.

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Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation von Naruse, 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

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Associations of pathological diagnosis and genetic abnormalities in meningiomas with the embryological origins of the meninges von Okano, Atsushi, Miyawaki, Satoru, Hongo, Hiroki, Dofuku, Shogo, Teranishi, Yu, Mitsui, Jun, Tanaka, Michihiro, Shin, Masahiro, Nakatomi, Hirofumi, Saito, Nobuhito

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Whole-exome sequencing in a Japanese pedigree implicates a rare non-synonymous single-nucleotide variant in BEST3 as a candidate for mandibular prognathism von Kajii, Takashi S., Oka, Akira, Saito, Fumio, Mitsui, Jun, Iida, Junichiro

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Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing von Doi, Koichiro, Monjo, Taku, Hoang, Pham H, Yoshimura, Jun, Yurino, Hideaki, Mitsui, Jun, Ishiura, Hiroyuki, Takahashi, Yuji, Ichikawa, Yaeko, Goto, Jun, Tsuji, Shoji, Morishita, Shinichi

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Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype–phenotype correlation with targeted deep sequencing von Teranishi, 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

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Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients von Ishii, Atsushi, Saito, Yoshiaki, Mitsui, Jun, Ishiura, Hiroyuki, Yoshimura, Jun, Arai, Hidee, Yamashita, Sumimasa, Kimura, Sadami, Oguni, Hirokazu, Morishita, Shinichi, Tsuji, Shoji, Sasaki, Masayuki, Hirose, Shinichi

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Blind-Test Numerical Simulation of Tsunami Wave Pressure Acting on a Land Structure von Mitsui, Jun, Kawasaki, Koji, Kubota, Hiroki, Suzuki, Kojiro

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Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease von Yamaguchi-Takegami, Nanaka, Takahashi, Akiko, Mitsui, Jun, Sugiyama, Yusuke, Chikada, Ayaka, Porto, Kristine Joyce L, Takegami, Naoki, Sakuishi, Kaori, Ishiura, Hiroyuki, Yamada, Kaoru, Shimizu, Jun, Tsuji, Shoji, Toda, Tatsushi

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A recurrent de novo FAM111A mutation causes kenny–caffey syndrome type 2 von Isojima, Tsuyoshi, Doi, Koichiro, Mitsui, Jun, Oda, Yoichiro, Tokuhiro, Etsuro, Yasoda, Akihiro, Yorifuji, Tohru, Horikawa, Reiko, Yoshimura, Jun, Ishiura, Hiroyuki, Morishita, Shinichi, Tsuji, Shoji, Kitanaka, Sachiko

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A Novel De Novo Variant in KCNH5 in a Patient with Refractory Epileptic Encephalopathy von Mitsutake, Akihiko, Matsukawa, Takashi, Naito, Tatsuhiko, Ishiura, Hiroyuki, Mitsui, Jun, Harada, Hiroaki, Fujio, Keishi, Fujishiro, Jun, Mori, Harushi, Morishita, Shinichi, Tsuji, Shoji, Toda, Tatsushi

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