תוצאות חיפוש - Jun Mitsui
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Associations of pathological diagnosis and genetic abnormalities in meningiomas with the embryological origins of the meninges מאת Atsushi Okano, Satoru Miyawaki, Hiroki Hongo, Shogo Dofuku, Yu Teranishi, Jun Mitsui, Michihiro Tanaka, Masahiro Shin, Hirofumi Nakatomi, Nobuhito Saito
יצא לאור 2021Artigo -
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Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing מאת Koichiro Doi, Taku Monjo, Pham Huy Hoang, Jun Yoshimura, Hideaki Yurino, Jun Mitsui, Hiroyuki Ishiura, Yuji Takahashi, Yaeko Ichikawa, Jun Goto, Shoji Tsuji, Shinichi Morishita
יצא לאור 2013Artigo -
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The pathogenesis linked to coenzyme Q10 insufficiency in iPSC-derived neurons from patients with multiple-system atrophy מאת Fumiko Kusunoki Nakamoto, Satoshi Okamoto, Jun Mitsui, Takefumi Sone, Mitsuru Ishikawa, Yorihiro Yamamoto, Yumi Kanegae, Yuhki Nakatake, Kent Imaizumi, Hiroyuki Ishiura, Shoji Tsuji, Hideyuki Okano
יצא לאור 2018Artigo -
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Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients מאת 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
יצא לאור 2013Artigo -
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Two Distinct Mechanisms of Augmented Antitumor Activity by Modulation of Immunostimulatory/Inhibitory Signals מאת Jun Mitsui, Hiroyoshi Nishikawa, Daisuke Muraoka, Linan Wang, Takuro Noguchi, Eiichi Sato, Satoshi Kondo, James P. Allison, Shimon Sakaguchi, Lloyd J. Old, Takuma Kato, Hiroshi Shiku
יצא לאור 2010Artigo -
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C9ORF72 Repeat Expansion in Amyotrophic Lateral Sclerosis in the Kii Peninsula of Japan מאת Hiroyuki Ishiura, Yuji Takahashi, Jun Mitsui, Sohei Yoshida, Tameko Kihira, Yasumasa Kokubo, Shigeki Kuzuhara, Laura P.W. Ranum, T Tamaoki, Yaeko Ichikawa, Hidetoshi Date, Jun Goto, Shoji Tsuji
יצא לאור 2012Artigo -
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Mutations for Gaucher Disease Confer High Susceptibility to Parkinson Disease מאת Jun Mitsui, Ikuko Mizuta, Atsushi Toyoda, Ryo Ashida, Yūji Takahashi, Jun Goto, Y. Fukuda, Hidetoshi Date, Atsushi Iwata, Mitsutoshi Yamamoto, Nobutaka Hattori, Miho Murata, Tatsushi Toda, Shoji Tsuji
יצא לאור 2009Artigo -
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Mechanisms of Genomic Instabilities Underlying Two Common Fragile-Site-Associated Loci, PARK2 and DMD, in Germ Cell and Cancer Cell Lines מאת Jun Mitsui, Yuji Takahashi, Jun Goto, Hiroyuki Tomiyama, Shunpei Ishikawa, Hiroyo Yoshino, Narihiro Minami, Jeremy C. Smith, Suzanne Lesage, Hiroyuki Aburatani, Ichizo Nishino, Alexis Brice, Nobutaka Hattori, Shoji Tsuji
יצא לאור 2010Artigo -
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Three-Year Follow-Up of High-Dose Ubiquinol Supplementation in a Case of Familial Multiple System Atrophy with Compound Heterozygous COQ2 Mutations מאת Jun Mitsui, Ken Koguchi, Toshimitsu Momose, M. Takahashi, Takashi Matsukawa, Tsutomu Yasuda, Shin‐ichi Tokushige, Hiroyuki Ishiura, Jun Goto, Shigeaki Nakazaki, Tomoyoshi Kondo, Hidefumi Ito, Yorihiro Yamamoto, Shoji Tsuji
יצא לאור 2017Artigo -
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A Novel Mutation in<i>ELOVL4</i>Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia מאת Kokoro Ozaki, Hiroshi Doi, Jun Mitsui, Nozomu Sato, Yoichiro Iikuni, Takamasa Majima, Kiyomi YAMANE, Takashi Irioka, Hiroyuki Ishiura, Koichiro Doi, Shinichi Morishita, Miwa Higashi, Teruhiko Sekiguchi, Kazuo Koyama, Naohisa Ueda, Yoshiharu Miura, Satoko Miyatake, Naomichi Matsumoto, Takanori Yokota, Fumiaki Tanaka, Shoji Tsuji, Hidehiro Mizusawa, Kinya Ishikawa
יצא לאור 2015Artigo -
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The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement מאת Hiroyuki Ishiura, Wataru Sako, Mari Yoshida, Toshitaka Kawarai, Osamu Tanabe, Jun Goto, Yuji Takahashi, Hidetoshi Date, Jun Mitsui, Budrul Ahsan, Yaeko Ichikawa, Atsushi Iwata, Hiide Yoshino, Yuishin Izumi, Koji Fujita, Kouji Maeda, Satoshi Goto, Hidetaka Koizumi, Ryoma Morigaki, Masako Ikemura, Naoko Yamauchi, Shigeo Murayama, Garth A. Nicholson, Hidefumi Ito, Gen Sobue, Masanori Nakagawa, Ryuji Kaji, Shoji Tsuji
יצא לאור 2012Artigo -
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Human genetic variation database, a reference database of genetic variations in the Japanese population מאת Koichiro Higasa, Noriko Miyake, Jun Yoshimura, K. Okamura, Tetsuya Niihori, Hirotomo Saitsu, Koichiro Doi, Masakazu Shimizu, Kazuhiko Nakabayashi, Yoko Aoki, Yoshinori Tsurusaki, Shinichi Morishita, Takahisa Kawaguchi, Osuke Migita, Keiko Nakayama, Mitsuko Nakashima, Jun Mitsui, Maiko Narahara, Keiko Hayashi, Ryo Funayama, Daisuke Yamaguchi, Hiroyuki Ishiura, Wen‐Ya Ko, Kenichiro Hata, Takeshi Nagashima, Ryo Yamada, Yoichi Matsubara, Akihiro Umezawa, Shoji Tsuji, Naomichi Matsumoto, Fumihiko Matsuda
יצא לאור 2016Artigo -
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Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy מאת Yujiro Higuchi, Ryuta Okunushi, Taichi Hara, Akihiro Hashiguchi, Jun‐Hui Yuan, Akiko Yoshimura, Kei Murayama, Akira Ohtake, Masahiro Ando, Yu Hiramatsu, Satoshi Ishihara, Hajime Tanabe, Yuji Okamoto, Eiji Matsuura, Takehiro Ueda, Tatsushi Toda, Sumimasa Yamashita, Kenichiro Yamada, Takashi Koide, Hiroaki Yaguchi, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Ken Sato, Masanori Nakagawa, Masamitsu Yamaguchi, Shoji Tsuji, Hiroshi Takashima
יצא לאור 2018Artigo -
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Mutations in <i>MME</i> cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2 מאת Yujiro Higuchi, Akihiro Hashiguchi, Jun‐Hui Yuan, Akiko Yoshimura, Jun Mitsui, Hiroyuki Ishiura, Masaki Tanaka, Satoshi Ishihara, Hajime Tanabe, Satoshi Nozuma, Yuji Okamoto, Eiji Matsuura, Ryuichi Ohkubo, Saeko Inamizu, Wataru Shiraishi, Ryo Yamasaki, Yasumasa Ohyagi, Jun‐ichi Kira, Yasushi Oya, Hayato Yabe, Noriko Nishikawa, Shinsuke Tobisawa, Nozomu Matsuda, Masayuki Masuda, Chiharu Kugimoto, Kazuhiro Fukushima, Satoshi Yano, Jun Yoshimura, Koichiro Doi, Masanori Nakagawa, Shinichi Morishita, Shoji Tsuji, Hiroshi Takashima
יצא לאור 2016Artigo -
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ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19 מאת Yuji Takahashi, Y. Fukuda, Jun Yoshimura, Atsushi Toyoda, Kari J. Kurppa, Hiroyoko Moritoyo, Véronique 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, Masashi Aoki, Gen Sobue, Jennifer A. Fifita, Kelly L. Williams, Ian P. Blair, Garth A. Nicholson, Paloma González-Pérez, Robert H. Brown, Masahiro Nomoto, Klaus Elenius, Guy A. Rouleau, Asao Fujiyama, Shinichi Morishita, Jun Goto, Shoji Tsuji
יצא לאור 2013Artigo -
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Variants associated with Gaucher disease in multiple system atrophy מאת Jun Mitsui, Takashi Matsukawa, Hidenao Sasaki, Ichiro Yabe, Masaaki Matsushima, Alexandra Dürr, Alexis Brice, Hiroshi Takashima, Akio Kikuchi, Masashi Aoki, Hiroyuki Ishiura, Tsutomu Yasuda, Hidetoshi Date, Budrul Ahsan, Atsushi Iwata, Jun Goto, Yaeko Ichikawa, Yasuo Nakahara, Yoshio Momose, Yūji Takahashi, Kenju Hara, Akiyoshi Kakita, Mitsunori Yamada, Hitoshi Takahashi, Osamu Onodera, Masatoyo Nishizawa, Hirohisa Watanabe, Mizuki Ito, Gen Sobue, 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, Murata Miho, Wataru Satake, Tatsushi Toda, Alessandro Filla, Thomas Klockgether, Ullrich Wüllner, Garth A. Nicholson, Sid Gilman, Caroline M. Tanner, Walter A. Kukull, Mathew B. Stern, Virginia M.‐Y. Lee, John Q. Trojanowski, Eliezer Masliah, Phillip A. Low, Paola Sandroni, Laurie J. Ozelius, Tatiana Foroud, Shoji Tsuji
יצא לאור 2015Artigo -
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Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease מאת E. Sidransky, Mike A. Nalls, Jan Aasly, J. Aharon‐Peretz, Grazia Annesi, Egberto Reis Barbosa, Anat Bar‐Shira, Daniela Berg, José Brás, Alexis Brice, Chien‐Ming Chen, Lorraine N. Clark, Christel Condroyer, Elvira Valeria De Marco, Alexandra Dürr, Michael J. Eblan, S Fahn, Matthew J. Farrer, Hon‐Chung Fung, Ziv Gan‐Or, Thomas Gasser, Ruth Gershoni‐Baruch, Nir Giladi, Alida Griffith, Tanya Gurevich, Cristina Januário, Peter Kropp, Anthony E. Lang, Guey‐Jen Lee‐Chen, Suzanne Lesage, K. Marder, Ignácio F. Mata, Anat Mirelman, Jun Mitsui, Ikuko Mizuta, Giuseppe Nicoletti, Catarina R. Oliveira, Ruth Ottman, Avi Orr‐Urtreger, Lygia da Veiga Pereira, Aldo Quattrone, Ekaterina Rogaeva, A. Rolfs, Hanna Rosenbaum, Roberto Rozenberg, Ali Samii, T. Samaddar, Claudia Schulte, Manu Sharma, Andrew Singleton, Mariana Spitz, Eng‐King Tan, N. Tayebi, Tatsushi Toda, A. R. Troiano, Shoji Tsuji, Matthias Wittstock, Tyra G. Wolfsberg, Yih‐Ru Wu, Cyrus P. Zabetian, Yirui Zhao, Shira G. Ziegler
יצא לאור 2009Artigo -
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Mutations in <i>COQ2</i> in Familial and Sporadic Multiple-System Atrophy מאת Jun Mitsui, Takashi Matsukawa, Hiroyuki Ishiura, Y. Fukuda, Yaeko Ichikawa, Hidetoshi Date, Budrul Ahsan, Yasuo Nakahara, Yoshio Momose, Yūji 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, Murata Miho, Wataru Satake, Tatsushi Toda, Alexandra Dürr, Alexis Brice, Alessandro Filla, Thomas Klockgether, U Wallner, Garth A. 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 J. Ozelius, Tatiana Foroud, Shoji Tsuji
יצא לאור 2013Artigo -
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CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia מאת Kelly L. Williams, Simon Topp, Shu Yang, Bradley Smith, Jennifer A. Fifita, Sadaf T. Warraich, Katharine Y. Zhang, Natalie E. Farrawell, Caroline Vance, Xun Hu, Alessandra Chesi, Claire S. Leblond, Albert Lee, Stephanie L. Rayner, Vinod Sundaramoorthy, Carol Dobson‐Stone, Mark P. Molloy, Marka van Blitterswijk, Dennis W. Dickson, Ronald C. Petersen, Neill R. Graff‐Radford, Bradley F. Boeve, Melissa E. Murray, Cyril Pottier, Emily K. Don, Claire Winnick, Emily P. McCann, Alison Hogan, Hussein Daoud, Annie Levert, Patrick A. Dion, Jun Mitsui, Hiroyuki Ishiura, Yuji Takahashi, Jun Goto, Jason Kost, Cinzia Gellera, Soragia Athina Gkazi, Jack W. Miller, Joanne Stockton, William S. Brooks, Karyn Boundy, Meraida Polak, José Luís Muñoz-Blanco, Jesús Esteban‐Pérez, Alberto Rábano, Orla Hardiman, Karen Morrison, Nicola Ticozzi, Vincenzo Silani, Jacqueline de Belleroche, Jonathan D. Glass, John B. Kwok, Gilles J. Guillemin, Roger S. Chung, Shoji Tsuji, Robert H. Brown, Alberto García‐Redondo, Rosa Rademakers, John E. Landers, Aaron D. Gitler, Guy A. Rouleau, Nicholas J. Cole, Justin J. Yerbury, Julie D. Atkin, Christopher E. Shaw, Garth A. Nicholson, Ian P. Blair
יצא לאור 2016Artigo
כלי חיפוש:
נושאים קשורים
Biology
Medicine
Genetics
Gene
Disease
Atrophy
Pathology
Internal medicine
Mutation
Allele
Neuroscience
Amyotrophic lateral sclerosis
Dementia
Exome sequencing
Ataxia
Cerebellar ataxia
Coenzyme Q10
Environmental health
Glucocerebrosidase
Missense mutation
Parkinsonism
Population
Allele frequency
Biochemistry
C9orf72
Compound heterozygosity
Computational biology
Computer science
DNA
Endocrinology