三宅綾子 (Ryoko Miyake) - マイポータル

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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

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