三宅綾子 (Ryoko Miyake) - マイポータル

基本情報

J-GLOBAL ID: 201901002832796040
researchmap会員ID: B000372225

論文

GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy.

Masaki Okubo, Hiroshi Doi, Ryoko Fukai, Atsushi Fujita, Satomi Mitsuhashi, Shunta Hashiguchi, Hitaru Kishida, Naohisa Ueda, Keisuke Morihara, Akihiro Ogasawara, Yuko Kawamoto, Tatsuya Takahashi, Keita Takahashi, Haruko Nakamura, Misako Kunii, Mikiko Tada, Atsuko Katsumoto, Hiromi Fukuda, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Junichiro Suzuki, Yasuhiro Ito, Jun Sone, Gen Sobue, Hideyuki Takeuchi, Naomichi Matsumoto, Fumiaki Tanaka

Annals of neurology 86(6) 962-968 2019年12月査読有り
An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome.

Okuzono S, Fukai R, Noda M, Miyake N, Lee S, Kaku N, Sanefuji M, Akamine S, Kanno S, Ishizaki Y, Torisu H, Kira R, Matsumoto N, Sakai Y, Ohga S

Brain & development 41(4) 378-381 2019年4月査読有り
Non-traumatic Acute Epidural Hematoma in Multiple Sclerosis Treated With Fingolimod.

Ryoko Fukai, Keita Takahashi, Hiroyuki Abe, Yuichi Higashiyama, Hiroshi Doi, Hideyuki Takeuchi, Fumiaki Tanaka

Frontiers in neurology 10 763-763 2019年査読有り
A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia

Satoshi Akamine, Yoshito Ishizaki, Yasunari Sakai, Hiroyuki Torisu, Ryoko Fukai, Noriko Miyake, Kazuhiro Ohkubo, Hiroshi Koga, Masafumi Sanefuji, Ayumi Sakata, Masahiko Kimura, Seiji Yamaguchi, Osamu Sakamoto, Toshiro Hara, Hirotomo Saitsu, Naomichi Matsumoto, Shouichi Ohga

European Journal of Medical Genetics 61(8) 451-454 2018年8月1日査読有り
A Case of McLeod Syndrome with A Novel XK Missense Mutation.

Komiya H, Takasu M, Hashiguchi S, Uematsu E, Fukai R, Tanaka K, Tada M, Joki H, Takahashi T, Koyano S, Doi H, Takeuchi H, Tanaka F

Movement disorders clinical practice 5(3) 333-336 2018年5月査読有り
Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations.

Hiroshi Doi, Shigeru Koyano, Satoko Miyatake, Shinji Nakajima, Yuka Nakazawa, Misako Kunii, Atsuko Tomita-Katsumoto, Kayoko Oda, Yukie Yamaguchi, Ryoko Fukai, Shingo Ikeda, Rumiko Kato, Katsuhisa Ogata, Shun Kubota, Noriko Hayashi, Keita Takahashi, Mikiko Tada, Kenichi Tanaka, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Tomoo Ogi, Michiko Aihara, Hideyuki Takeuchi, Naomichi Matsumoto, Fumiaki Tanaka

Journal of human genetics 63(4) 417-423 2018年4月査読有り
Cerebrospinal fluid level of Nogo receptor 1 antagonist lateral olfactory tract usher substance (LOTUS) correlates inversely with the extent of neuroinflammation.

Keita Takahashi, Hideyuki Takeuchi, Yuji Kurihara, Hiroshi Doi, Misako Kunii, Kenichi Tanaka, Haruko Nakamura, Ryoko Fukai, Atsuko Tomita-Katsumoto, Mikiko Tada, Yuichi Higashiyama, Hideto Joki, Shigeru Koyano, Kohtaro Takei, Fumiaki Tanaka

Journal of neuroinflammation 15(1) 46-46 2018年2月17日査読有り
Matrin 3 Is a Component of Neuronal Cytoplasmic Inclusions of Motor Neurons in Sporadic Amyotrophic Lateral Sclerosis.

Mikiko Tada, Hiroshi Doi, Shigeru Koyano, Shun Kubota, Ryoko Fukai, Shunta Hashiguchi, Noriko Hayashi, Yuko Kawamoto, Misako Kunii, Kenichi Tanaka, Keita Takahashi, Yuki Ogawa, Ryo Iwata, Shoji Yamanaka, Hideyuki Takeuchi, Fumiaki Tanaka

The American journal of pathology 188(2) 507-514 2018年2月査読有り
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.

Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Satoko Miyatake, Eriko Koshimizu, Itaru Kushima, Takashi Okada, Mako Morikawa, Yota Uno, Kanako Ishizuka, Kazuhiko Nakamura, Masatsugu Tsujii, Takeo Yoshikawa, Tomoko Toyota, Nobuhiko Okamoto, Yoko Hiraki, Ryota Hashimoto, Yuka Yasuda, Shinji Saitoh, Kei Ohashi, Yasunari Sakai, Shouichi Ohga, Toshiro Hara, Mitsuhiro Kato, Kazuyuki Nakamura, Aiko Ito, Chizuru Seiwa, Emi Shirahata, Hitoshi Osaka, Ayumi Matsumoto, Saoko Takeshita, Jun Tohyama, Tomoko Saikusa, Toyojiro Matsuishi, Takumi Nakamura, Takashi Tsuboi, Tadafumi Kato, Toshifumi Suzuki, Hirotomo Saitsu, Mitsuko Nakashima, Takeshi Mizuguchi, Fumiaki Tanaka, Norio Mori, Norio Ozaki, Naomichi Matsumoto

Cell reports 22(3) 734-747 2018年1月16日査読有り
A case of severe movement disorder with GNAO1 mutation responsive to topiramate.

Saori Sakamoto, Yukifumi Monden, Ryoko Fukai, Noriko Miyake, Hiroshi Saito, Akihiko Miyauchi, Ayumi Matsumoto, Masako Nagashima, Hitoshi Osaka, Naomichi Matsumoto, Takanori Yamagata

Brain & development 39(5) 439-443 2017年5月査読有り
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.

Noriko Miyake, Ryoko Fukai, Chihiro Ohba, Takahiro Chihara, Masayuki Miura, Hiroshi Shimizu, Akiyoshi Kakita, Eri Imagawa, Masaaki Shiina, Kazuhiro Ogata, Jiu Okuno-Yuguchi, Noboru Fueki, Yoshifumi Ogiso, Hiroshi Suzumura, Yoshiyuki Watabe, George Imataka, Huey Yin Leong, Aviva Fattal-Valevski, Uri Kramer, Satoko Miyatake, Mitsuhiro Kato, Nobuhiko Okamoto, Yoshinori Sato, Satomi Mitsuhashi, Ichizo Nishino, Naofumi Kaneko, Akira Nishiyama, Tomohiko Tamura, Takeshi Mizuguchi, Mitsuko Nakashima, Fumiaki Tanaka, Hirotomo Saitsu, Naomichi Matsumoto

American journal of human genetics 99(4) 950-961 2016年10月6日査読有り
De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis

Hikaru Kanemasa, Ryoko Fukai, Yasunari Sakai, Michiko Torio, Noriko Miyake, Sooyoung Lee, Hiroaki Ono, Satoshi Akamine, Kei Nishiyama, Masafumi Sanefuji, Yoshito Ishizaki, Hiroyuki Torisu, Hirotomo Saitsu, Naomichi Matsumoto, Toshiro Hara

BMC NEUROLOGY 16 174 2016年9月査読有り
Panventriculomegaly with a wide foramen of Magendie and large cisterna magna

Hiroshi Kageyama, Masakazu Miyajima, Ikuko Ogino, Madoka Nakajima, Kazuaki Shimoji, Ryoko Fukai, Noriko Miyake, Kenichi Nishiyama, Naomichi Matsumoto, Hajime Arai

JOURNAL OF NEUROSURGERY 124(6) 1858-1866 2016年6月査読有り
De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy

Yasunari Sakai, Ryoko Fukai, Yuki Matsushita, Noriko Miyake, Hirotomo Saitsu, Satoshi Akamine, Michiko Torio, Momoko Sasazuki, Yoshito Ishizaki, Masafumi Sanefuji, Hiroyuki Torisu, Chad A. Shaw, Naomichi Matsumoto, Toshiro Hara

ANNALS OF HUMAN GENETICS 80(4) 235-240 2016年6月査読有り
De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia

Ryoko Fukai, Hirotomo Saitsu, Nobuhiko Okamoto, Yasunari Sakai, Aviva Fattal-Valevski, Shiina Masaaki, Yukihiro Kitai, Michiko Torio, Kanako Kojima-Ishii, Kenji Ihara, Veronika Chernuha, Mitsuko Nakashima, Satoko Miyatake, Fumiaki Tanaka, Noriko Miyake, Naomichi Matsumoto

JOURNAL OF HUMAN GENETICS 61(5) 451-455 2016年5月査読有り
De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures

Ryoko Fukai, Hirotomo Saitsu, Yoshinori Tsurusaki, Yasunari Sakai, Kazuhiro Haginoya, Kazumasa Takahashi, Monika Weisz Hubshman, Nobuhiko Okamoto, Mitsuko Nakashima, Fumiaki Tanaka, Noriko Miyake, Naomichi Matsumoto

JOURNAL OF HUMAN GENETICS 61(5) 381-387 2016年5月査読有り
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.

Hirotomo Saitsu, Ryoko Fukai, Bruria Ben-Zeev, Yasunari Sakai, Masakazu Mimaki, Nobuhiko Okamoto, Yasuhiro Suzuki, Yukifumi Monden, Hiroshi Saito, Barak Tziperman, Michiko Torio, Satoshi Akamine, Nagahisa Takahashi, Hitoshi Osaka, Takanori Yamagata, Kazuyuki Nakamura, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto

European journal of human genetics : EJHG 24(1) 129-34 2016年1月査読有り
De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features

Hanan H. Afifi, Ryoko Fukai, Noriko Miyake, Amina A. Gamal el Din, Maha M. Eid, Ola M. Eid, Manal M. Thomas, Tarek H. El-Badry, Angie M. S. Tosson, Ghada M. H. Abdel-Salam, Naomichi Matsumoto

AMERICAN JOURNAL OF MEDICAL GENETICS PART A 167(10) 2418-2424 2015年10月査読有り
A case of autism spectrum disorder arising from a de novo missense mutation in POGZ

Ryoko Fukai, Yoko Hiraki, Hiroko Yofune, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Fumiaki Tanaka, Noriko Miyake, Naomichi Matsumoto

JOURNAL OF HUMAN GENETICS 60(5) 277-279 2015年5月査読有り
Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach

Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, Ryoko Fukai, Eri Imagawa, Chihiro Ohba, Ichiro Kuki, Megumi Nukui, Atsushi Araki, Yoshio Makita, Tsutomu Ogata, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto

JOURNAL OF HUMAN GENETICS 60(4) 175-182 2015年4月査読有り

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