Works by Miyake, Noriko

Results: 226
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    X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.

    Published in:
    Neurogenetics, 2017, v. 18, n. 4, p. 185, doi. 10.1007/s10048-017-0520-x
    By:
    • Miyake, Noriko;
    • Wolf, Nicole;
    • Cayami, Ferdy;
    • Crawford, Joanna;
    • Bley, Annette;
    • Bulas, Dorothy;
    • Conant, Alex;
    • Bent, Stephen;
    • Gripp, Karen;
    • Hahn, Andreas;
    • Humphray, Sean;
    • Kimura-Ohba, Shihoko;
    • Kingsbury, Zoya;
    • Lajoie, Bryan;
    • Lal, Dennis;
    • Micha, Dimitra;
    • Pizzino, Amy;
    • Sinke, Richard;
    • Sival, Deborah;
    • Stolte-Dijkstra, Irene
    Publication type:
    Article
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    Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.

    Published in:
    Neurogenetics, 2013, v. 14, n. 3/4, p. 225, doi. 10.1007/s10048-013-0375-8
    By:
    • Ohba, Chihiro;
    • Osaka, Hitoshi;
    • Iai, Mizue;
    • Yamashita, Sumimasa;
    • Suzuki, Yume;
    • Aida, Noriko;
    • Shimozawa, Nobuyuki;
    • Takamura, Ayumi;
    • Doi, Hiroshi;
    • Tomita-Katsumoto, Atsuko;
    • Nishiyama, Kiyomi;
    • Tsurusaki, Yoshinori;
    • Nakashima, Mitsuko;
    • Miyake, Noriko;
    • Eto, Yoshikatsu;
    • Tanaka, Fumiaki;
    • Matsumoto, Naomichi;
    • Saitsu, Hirotomo
    Publication type:
    Article
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    The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.

    Published in:
    Human Mutation, 2020, v. 41, n. 3, p. 591, doi. 10.1002/humu.23964
    By:
    • Yigit, Gökhan;
    • Saida, Ken;
    • DeMarzo, Danielle;
    • Miyake, Noriko;
    • Fujita, Atsushi;
    • Yang Tan, Tiong;
    • White, Susan M.;
    • Wadley, Alexandrea;
    • Toliat, Mohammad R.;
    • Motameny, Susanne;
    • Franitza, Marek;
    • Stutterd, Chloe A.;
    • Chong, Pin F.;
    • Kira, Ryutaro;
    • Sengoku, Toru;
    • Ogata, Kazuhiro;
    • Guillen Sacoto, Maria J.;
    • Fresen, Christine;
    • Beck, Bodo B.;
    • Nürnberg, Peter
    Publication type:
    Article
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    De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.

    Published in:
    Human Mutation, 2018, v. 39, n. 8, p. 1070, doi. 10.1002/humu.23550
    By:
    • Belal, Hazrat;
    • Nakashima, Mitsuko;
    • Matsumoto, Hiroshi;
    • Yokochi, Kenji;
    • Taniguchi‐Ikeda, Mariko;
    • Aoto, Kazushi;
    • Amin, Mohammed Badrul;
    • Maruyama, Azusa;
    • Nagase, Hiroaki;
    • Mizuguchi, Takeshi;
    • Miyatake, Satoko;
    • Miyake, Noriko;
    • Iijima, Kazumoto;
    • Nonoyama, Shigeaki;
    • Matsumoto, Naomichi;
    • Saitsu, Hirotomo
    Publication type:
    Article
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    Cover Image, Volume 38, Issue 6.

    Published in:
    Human Mutation, 2017, v. 38, n. 6, p. i, doi. 10.1002/humu.23244
    By:
    • Imagawa, Eri;
    • Higashimoto, Ken;
    • Sakai, Yasunari;
    • Numakura, Chikahiko;
    • Okamoto, Nobuhiko;
    • Matsunaga, Satoko;
    • Ryo, Akihide;
    • Sato, Yoshinori;
    • Sanefuji, Masafumi;
    • Ihara, Kenji;
    • Takada, Yui;
    • Nishimura, Gen;
    • Saitsu, Hirotomo;
    • Mizuguchi, Takeshi;
    • Miyatake, Satoko;
    • Nakashima, Mitsuko;
    • Miyake, Noriko;
    • Soejima, Hidenobu;
    • Matsumoto, Naomichi
    Publication type:
    Article
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    Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.

    Published in:
    Human Mutation, 2017, v. 38, n. 6, p. 637, doi. 10.1002/humu.23200
    By:
    • Imagawa, Eri;
    • Higashimoto, Ken;
    • Sakai, Yasunari;
    • Numakura, Chikahiko;
    • Okamoto, Nobuhiko;
    • Matsunaga, Satoko;
    • Ryo, Akihide;
    • Sato, Yoshinori;
    • Sanefuji, Masafumi;
    • Ihara, Kenji;
    • Takada, Yui;
    • Nishimura, Gen;
    • Saitsu, Hirotomo;
    • Mizuguchi, Takeshi;
    • Miyatake, Satoko;
    • Nakashima, Mitsuko;
    • Miyake, Noriko;
    • Soejima, Hidenobu;
    • Matsumoto, Naomichi
    Publication type:
    Article
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    Cover Image, Volume 38, Issue 3.

    Published in:
    Human Mutation, 2017, v. 38, n. 3, p. i, doi. 10.1002/humu.23194
    By:
    • Takeda, Kazuki;
    • Kou, Ikuyo;
    • Kawakami, Noriaki;
    • Iida, Aritoshi;
    • Nakajima, Masahiro;
    • Ogura, Yoji;
    • Imagawa, Eri;
    • Miyake, Noriko;
    • Matsumoto, Naomichi;
    • Yasuhiko, Yukuto;
    • Sudo, Hideki;
    • Kotani, Toshiaki;
    • Nakamura, Masaya;
    • Matsumoto, Morio;
    • Watanabe, Kota;
    • Ikegawa, Shiro
    Publication type:
    Article
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    De Novo Mutations in SLC35 A2 Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy.

    Published in:
    Human Mutation, 2013, v. 34, n. 12, p. 1708, doi. 10.1002/humu.22446
    By:
    • Kodera, Hirofumi;
    • Nakamura, Kazuyuki;
    • Osaka, Hitoshi;
    • Maegaki, Yoshihiro;
    • Haginoya, Kazuhiro;
    • Mizumoto, Shuji;
    • Kato, Mitsuhiro;
    • Okamoto, Nobuhiko;
    • Iai, Mizue;
    • Kondo, Yukiko;
    • Nishiyama, Kiyomi;
    • Tsurusaki, Yoshinori;
    • Nakashima, Mitsuko;
    • Miyake, Noriko;
    • Hayasaka, Kiyoshi;
    • Sugahara, Kazuyuki;
    • Yuasa, Isao;
    • Wada, Yoshinao;
    • Matsumoto, Naomichi;
    • Saitsu, Hirotomo
    Publication type:
    Article
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    Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation.

    Published in:
    Human Mutation, 2013, v. 34, n. 3, p. 446, doi. 10.1002/humu.22257
    By:
    • Miyake, Noriko;
    • Yano, Shoji;
    • Sakai, Chika;
    • Hatakeyama, Hideyuki;
    • Matsushima, Yuichi;
    • Shiina, Masaaki;
    • Watanabe, Yoriko;
    • Bartley, James;
    • Abdenur, Jose E.;
    • Wang, Raymond Y.;
    • Chang, Richard;
    • Tsurusaki, Yoshinori;
    • Doi, Hiroshi;
    • Nakashima, Mitsuko;
    • Saitsu, Hirotomo;
    • Ogata, Kazuhiro;
    • Goto, Yu‐ichi;
    • Matsumoto, Naomichi
    Publication type:
    Article
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    KDM6 A Point Mutations Cause Kabuki Syndrome.

    Published in:
    Human Mutation, 2013, v. 34, n. 1, p. 108, doi. 10.1002/humu.22229
    By:
    • Miyake, Noriko;
    • Mizuno, Seiji;
    • Okamoto, Nobuhiko;
    • Ohashi, Hirofumi;
    • Shiina, Masaaki;
    • Ogata, Kazuhiro;
    • Tsurusaki, Yoshinori;
    • Nakashima, Mitsuko;
    • Saitsu, Hirotomo;
    • Niikawa, Norio;
    • Matsumoto, Naomichi
    Publication type:
    Article
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    A response to: Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, 'dermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome'. Which name is appropriate, 'Adducted Thumb-Clubfoot Syndrome' or 'Ehlers-Danlos syndrome'?

    Published in:
    Human Mutation, 2011, v. 32, n. 12, p. 1507, doi. 10.1002/humu.21586
    By:
    • Kosho, Tomoki;
    • Miyake, Noriko;
    • Mizumoto, Shuji;
    • Hatamochi, Atsushi;
    • Fukushima, Yoshimitsu;
    • Yamada, Shuhei;
    • Sugahara, Kazuyuki;
    • Matsumoto, Naomichi
    Publication type:
    Article
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    Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

    Published in:
    Human Mutation, 2010, v. 31, n. 8, p. 966, doi. 10.1002/humu.21300
    By:
    • Miyake, Noriko;
    • Kosho, Tomoki;
    • Mizumoto, Shuji;
    • Furuichi, Tatsuya;
    • Hatamochi, Atsushi;
    • Nagashima, Yoji;
    • Arai, Eiichi;
    • Takahashi, Kazuo;
    • Kawamura, Rie;
    • Wakui, Keiko;
    • Takahashi, Jun;
    • Kato, Hiroyuki;
    • Yasui, Hiroshi;
    • Ishida, Tadao;
    • Ohashi, Hirofumi;
    • Nishimura, Gen;
    • Shiina, Masaaki;
    • Saitsu, Hirotomo;
    • Tsurusaki, Yoshinori;
    • Doi, Hiroshi
    Publication type:
    Article
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    Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion(Communicated by David N. Cooper).

    Published in:
    Human Mutation, 2003, v. 22, n. 5, p. 378, doi. 10.1002/humu.10270
    By:
    • Naohiro Kurotaki;
    • Naoki Harada;
    • Osamu Shimokawa;
    • Noriko Miyake;
    • Hiroshi Kawame;
    • Kimiaki Uetake;
    • Yoshio Makita;
    • Tatsuro Kondoh;
    • Tsutomu Ogata;
    • Tomoko Hasegawa;
    • Toshiro Nagai;
    • Takao Ozaki;
    • Mayumi Touyama;
    • Ruthie Shenhav;
    • Hirofumi Ohashi;
    • Livija Medne;
    • Takashi Shiihara;
    • Shigeyuki Ohtsu;
    • Zen-ichiro Kato;
    • Nobuhiko Okamoto
    Publication type:
    Article
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    A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 7, p. 1117, doi. 10.1002/acn3.51093
    By:
    • Suzuki, Toshimitsu;
    • Suzuki, Toshifumi;
    • Raveau, Matthieu;
    • Miyake, Noriko;
    • Sudo, Genki;
    • Tsurusaki, Yoshinori;
    • Watanabe, Takaki;
    • Sugaya, Yuki;
    • Tatsukawa, Tetsuya;
    • Mazaki, Emi;
    • Shimohata, Atsushi;
    • Kushima, Itaru;
    • Aleksic, Branko;
    • Shiino, Tomoko;
    • Toyota, Tomoko;
    • Iwayama, Yoshimi;
    • Nakaoka, Kentaro;
    • Ohmori, Iori;
    • Sasaki, Aya;
    • Watanabe, Ken
    Publication type:
    Article
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    Genome sequencing in persistently unsolved white matter disorders.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 1, p. 144, doi. 10.1002/acn3.50957
    By:
    • Helman, Guy;
    • Lajoie, Bryan R.;
    • Crawford, Joanna;
    • Takanohashi, Asako;
    • Walkiewicz, Marzena;
    • Dolzhenko, Egor;
    • Gross, Andrew M.;
    • Gainullin, Vladimir G.;
    • Bent, Stephen J.;
    • Jenkinson, Emma M.;
    • Ferdinandusse, Sacha;
    • Waterham, Hans R.;
    • Dorboz, Imen;
    • Bertini, Enrico;
    • Miyake, Noriko;
    • Wolf, Nicole I.;
    • Abbink, Truus E. M.;
    • Kirwin, Susan M.;
    • Tan, Christina M.;
    • Hobson, Grace M.
    Publication type:
    Article
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    <italic>De novo</italic> variants in <italic>CAMK2A</italic> and <italic>CAMK2B</italic> cause neurodevelopmental disorders.

    Published in:
    Annals of Clinical & Translational Neurology, 2018, v. 5, n. 3, p. 280, doi. 10.1002/acn3.528
    By:
    • Akita, Tenpei;
    • Aoto, Kazushi;
    • Kato, Mitsuhiro;
    • Shiina, Masaaki;
    • Mutoh, Hiroki;
    • Nakashima, Mitsuko;
    • Kuki, Ichiro;
    • Okazaki, Shin;
    • Magara, Shinichi;
    • Shiihara, Takashi;
    • Yokochi, Kenji;
    • Aiba, Kaori;
    • Tohyama, Jun;
    • Ohba, Chihiro;
    • Miyatake, Satoko;
    • Miyake, Noriko;
    • Ogata, Kazuhiro;
    • Fukuda, Atsuo;
    • Matsumoto, Naomichi;
    • Saitsu, Hirotomo
    Publication type:
    Article
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    De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.

    Published in:
    Nature Genetics, 2013, v. 45, n. 4, p. 445, doi. 10.1038/ng.2562
    By:
    • Saitsu, Hirotomo;
    • Kato, Mitsuhiro;
    • Mizushima, Noboru;
    • Nishimura, Taki;
    • Muramatsu, Kazuhiro;
    • Kodera, Hirofumi;
    • Nishiyama, Kiyomi;
    • Kondo, Yukiko;
    • Tsurusaki, Yoshinori;
    • Nakashima, Mitsuko;
    • Miyake, Noriko;
    • Matsumoto, Naomichi;
    • Kumada, Satoko;
    • Kasai-Yoshida, Emi;
    • Sugai, Kenji;
    • Sawaura, Noriko;
    • Arakawa, Hirokazu;
    • Nishida, Hiroya;
    • Hoshino, Ai;
    • Ryujin, Fukiko
    Publication type:
    Article
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    A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.

    Published in:
    Movement Disorders, 2013, v. 28, n. 4, p. 552, doi. 10.1002/mds.25296
    By:
    • Higashiyama, Yuichi;
    • Doi, Hiroshi;
    • Wakabayashi, Masatoshi;
    • Tsurusaki, Yoshinori;
    • Miyake, Noriko;
    • Saitsu, Hirotomo;
    • Ohba, Chihiro;
    • Fukai, Ryoko;
    • Miyatake, Satoko;
    • Joki, Hideto;
    • Koyano, Shigeru;
    • Suzuki, Yume;
    • Tanaka, Fumiaki;
    • Kuroiwa, Yoshiyuki;
    • Matsumoto, Naomichi
    Publication type:
    Article
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    Distal 2q duplication in a patient with intellectual disability.

    Published in:
    Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00215-8
    By:
    • Suzuki, Toshifumi;
    • Osaka, Hitoshi;
    • Miyake, Noriko;
    • Fujita, Atsushi;
    • Uchiyama, Yuri;
    • Seyama, Rie;
    • Koshimizu, Eriko;
    • Miyatake, Satoko;
    • Mizuguchi, Takeshi;
    • Takeda, Satoru;
    • Matsumoto, Naomichi
    Publication type:
    Article
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