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Novel mutation in the membrane metalloendopeptidase gene in a patient with the autosomal recessive form of Charcot-Marie-Tooth disease.
Published in:
Neurology & Clinical Neuroscience, 2017, v. 5, n. 4, p. 124, doi. 10.1111/ncn3.12126
By:
- Ishiura, Hiroyuki;
- Mitsui, Jun;
- Yoshimura, Jun;
- Doi, Koichiro;
- Morishita, Shinichi;
- Hamada, Masashi;
- Goto, Jun;
- Tsuji, Shoji
Publication type:
Article
Novel COL6A2 mutation in a case of limb girdle muscular dystrophy phenotype with autosomal recessive inheritance.
Published in:
Neurology & Clinical Neuroscience, 2016, v. 4, n. 5, p. 189, doi. 10.1111/ncn3.12068
By:
- Mitsui, Jun;
- Ishiura, Hiroyuki;
- Yoshimura, Jun;
- Doi, Koichiro;
- Morishita, Shinichi;
- Shoji, Hiroshi;
- Arimori, Yojiro;
- Matsumoto, Takafumi;
- Shimizu, Jun;
- Tsuji, Shoji
Publication type:
Article
GPS observation of the sea level variation in Lützow-Holm Bay, Antarctica.
Published in:
Geophysical Research Letters, 2000, v. 27, n. 15, p. 2285, doi. 10.1029/1999GL011304
By:
- Aoki, Shigeru;
- Ozawa, Taku;
- Doi, Koichiro;
- Shibuya, Kazuo
Publication type:
Article
Novel De Novo <italic>KCND3</italic> Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.
Published in:
Cerebellum, 2018, v. 17, n. 2, p. 237, doi. 10.1007/s12311-017-0883-4
By:
- Kurihara, Masanori;
- Ishiura, Hiroyuki;
- Sasaki, Takuya;
- Otsuka, Juuri;
- Hayashi, Toshihiro;
- Terao, Yasuo;
- Matsukawa, Takashi;
- Mitsui, Jun;
- Kaneko, Juntaro;
- Nishiyama, Kazutoshi;
- Doi, Koichiro;
- Yoshimura, Jun;
- Morishita, Shinichi;
- Shimizu, Jun;
- Tsuji, Shoji
Publication type:
Article
UTGB/medaka: genomic resource database for medaka biology.
Published in:
Nucleic Acids Research, 2008, v. 36, p. D747
By:
- Ahsan, Budrul;
- Kobayashi, Daisuke;
- Yamada, Tomoyuki;
- Kasahara, Masahiro;
- Sasaki, Shin;
- Saito, Taro L.;
- Nagayasu, Yukinobu;
- Doi, Koichiro;
- Nakatani, Yoichiro;
- Qu, Wei;
- Jindo, Tomoko;
- Shimada, Atsuko;
- Naruse, Kiyoshi;
- Toyoda, Atsushi;
- Kuroki, Yoko;
- Fujiyama, Asao;
- Sasaki, Takashi;
- Shimizu, Atsushi;
- Asakawa, Shuichi;
- Shimizu, Nobuyoshi
Publication type:
Article
Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome sequencing.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 7, p. 712, doi. 10.1002/ajmg.b.32559
By:
- Eriguchi, Yosuke;
- Kuwabara, Hitoshi;
- Inai, Aya;
- Kawakubo, Yuki;
- Nishimura, Fumichika;
- Kakiuchi, Chihiro;
- Tochigi, Mamoru;
- Ohashi, Jun;
- Aoki, Naoto;
- Kato, Kayoko;
- Ishiura, Hiroyuki;
- Mitsui, Jun;
- Tsuji, Shoji;
- Doi, Koichiro;
- Yoshimura, Jun;
- Morishita, Shinichi;
- Shimada, Takafumi;
- Furukawa, Masaomi;
- Umekage, Tadashi;
- Sasaki, Tsukasa
Publication type:
Article
EFFICIENT MINING OF CLOSED TREE PATTERNS FROM LARGE TREE DATABASES WITH SUBTREE CONSTRAINT.
Published in:
International Journal on Artificial Intelligence Tools, 2012, v. 21, n. 6, p. -1, doi. 10.1142/S0218213012500261
By:
- NGUYEN, VIET ANH;
- DOI, KOICHIRO;
- YAMAMOTO, AKIHIRO
Publication type:
Article
The medaka draft genome and insights into vertebrate genome evolution.
Published in:
Nature, 2007, v. 447, n. 7145, p. 714, doi. 10.1038/nature05846
By:
- Kasahara, Masahiro;
- Naruse, Kiyoshi;
- Sasaki, Shin;
- Nakatani, Yoichiro;
- Wei Qu;
- Ahsan, Budrul;
- Yamada, Tomoyuki;
- Nagayasu, Yukinobu;
- Doi, Koichiro;
- Kasai, Yasuhiro;
- Jindo, Tomoko;
- Kobayashi, Daisuke;
- Shimada, Atsuko;
- Toyoda, Atsushi;
- Kuroki, Yoko;
- Fujiyama, Asao;
- Sasaki, Takashi;
- Shimizu, Atsushi;
- Asakawa, Shuichi;
- Shimizu, Nobuyoshi
Publication type:
Article
Expression profile analysis in cells overexpressing DRPLA cDNA to explore the roles of DRPLAp as a transcriptional coregulator.
Published in:
Neurology & Clinical Neuroscience, 2022, v. 10, n. 4, p. 210, doi. 10.1111/ncn3.12607
By:
- Hatano, Keiko;
- Date, Hidetoshi;
- Ishiura, Hiroyuki;
- Matsukawa, Takashi;
- Tanaka, Masaki;
- Mitsui, Jun;
- Goto, Jun;
- Yoshimura, Jun;
- Doi, Koichiro;
- Morishita, Shinichi;
- Tsuji, Shoji
Publication type:
Article
Sporadic progressive myoclonic epilepsy with early‐onset dementia caused by a de novo mutation in PSEN1.
Published in:
Neurology & Clinical Neuroscience, 2019, v. 7, n. 5, p. 294, doi. 10.1111/ncn3.12319
By:
- Taminato, Tomoya;
- Araki, Manabu;
- Sato, Noriko;
- Ishiura, Hiroyuki;
- Mitsui, Jun;
- Yoshimura, Jun;
- Doi, Koichiro;
- Morishita, Shinichi;
- Tsuji, Shoji;
- Takahashi, Yuji
Publication type:
Article
A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia.
Published in:
JAMA Neurology, 2015, v. 72, n. 7, p. 797, doi. 10.1001/jamaneurol.2015.0610
By:
- 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
Publication type:
Article
Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-68888-1
By:
- Hongo, 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
Publication type:
Article
Modeling neurological diseases with induced pluripotent cells reprogrammed from immortalized lymphoblastoid cell lines.
Published in:
Molecular Brain, 2016, v. 9, p. 1, doi. 10.1186/s13041-016-0267-6
By:
- Koki Fujimori;
- Toshiki Tezuka;
- Hiroyuki Ishiura;
- Jun Mitsui;
- Koichiro Doi;
- Jun Yoshimura;
- Hirobumi Tada;
- Takuya Matsumoto;
- Miho Isoda;
- Ryota Hashimoto;
- Nubutaka Hattori;
- Takuya Takahashi;
- Shinichi Morishita;
- Shoji Tsuji;
- Wado Akamatsu;
- Hideyuki Okano
Publication type:
Article
Centromere evolution and CpG methylation during vertebrate speciation.
Published in:
Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01982-7
By:
- Kazuki Ichikawa;
- Shingo Tomioka;
- Yuta Suzuki;
- Ryohei Nakamura;
- Koichiro Doi;
- Jun Yoshimura;
- Masahiko Kumagai;
- Yusuke Inoue;
- Yui Uchida;
- Naoki Irie;
- Hiroyuki Takeda;
- Shinich Morishita
Publication type:
Article
Temporal variations in the flow velocity for Shirase Glacier in Antarctica over a 20-year period.
Published in:
Journal of the Japanese Society of Snow & Ice / Seppyo, 2017, v. 79, n. 1, p. 3, doi. 10.5331/seppyo.79.1_3
By:
- Kazuki NAKAMURA;
- Tsutomu YAMANOKUCHI;
- Shigeru AOKI;
- Koichiro DOI;
- Kazuo SHIBUYA
Publication type:
Article
A recurrent de novo FAM111A mutation causes kenny-caffey syndrome type 2.
Published in:
Journal of Bone & Mineral Research, 2014, v. 29, n. 4, p. 992, doi. 10.1002/jbmr.2091
By:
- 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
Publication type:
Article
Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis.
Published in:
Neurogenetics, 2021, v. 22, n. 1, p. 11, doi. 10.1007/s10048-020-00626-1
By:
- Naruse, Hiroya;
- Ishiura, Hiroyuki;
- Mitsui, Jun;
- Takahashi, Yuji;
- Matsukawa, Takashi;
- Sakuishi, Kaori;
- Nakamagoe, Kiyotaka;
- Miyake, Zenshi;
- Tamaoka, Akira;
- Goto, Jun;
- Yoshimura, Jun;
- Doi, Koichiro;
- Morishita, Shinichi;
- Toda, Tatsushi;
- Tsuji, Shoji
Publication type:
Article
Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing.
Published in:
Bioinformatics, 2014, v. 30, n. 6, p. 815, doi. 10.1093/bioinformatics/btt647
By:
- 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
Publication type:
Article

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