Matrin 3 Is a Component of Neuronal Cytoplasmic Inclusions of Motor Neurons in Sporadic Amyotrophic Lateral Sclerosis
Tada, Mikiko, Doi, Hiroshi, Koyano, Shigeru, Kubota, Shun, Fukai, Ryoko, Hashiguchi, Shunta, Hayashi, Noriko, Kawamoto, Yuko, Kunii, Misako, Tanaka, Kenichi, Takahashi, Keita, Ogawa, Yuki, Iwata, Ryo, Yamanaka, Shoji, Takeuchi, Hideyuki, Tanaka, Fumiaki
Published in The American journal of pathology (01.02.2018)
Published in The American journal of pathology (01.02.2018)
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Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach
Miyatake, Satoko, Koshimizu, Eriko, Fujita, Atsushi, Fukai, Ryoko, Imagawa, Eri, Ohba, Chihiro, Kuki, Ichiro, Nukui, Megumi, Araki, Atsushi, Makita, Yoshio, Ogata, Tsutomu, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Matsumoto, Naomichi
Published in Journal of human genetics (01.04.2015)
Published in Journal of human genetics (01.04.2015)
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Journal Article
A case of autism spectrum disorder arising from a de novo missense mutation in POGZ
Fukai, Ryoko, Hiraki, Yoko, Yofune, Hiroko, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Saitsu, Hirotomo, Tanaka, Fumiaki, Miyake, Noriko, Matsumoto, Naomichi
Published in Journal of human genetics (01.05.2015)
Published in Journal of human genetics (01.05.2015)
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Journal Article
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy
Miyake, Noriko, Fukai, Ryoko, Ohba, Chihiro, Chihara, Takahiro, Miura, Masayuki, Shimizu, Hiroshi, Kakita, Akiyoshi, Imagawa, Eri, Shiina, Masaaki, Ogata, Kazuhiro, Okuno-Yuguchi, Jiu, Fueki, Noboru, Ogiso, Yoshifumi, Suzumura, Hiroshi, Watabe, Yoshiyuki, Imataka, George, Leong, Huey Yin, Fattal-Valevski, Aviva, Kramer, Uri, Miyatake, Satoko, Kato, Mitsuhiro, Okamoto, Nobuhiko, Sato, Yoshinori, Mitsuhashi, Satomi, Nishino, Ichizo, Kaneko, Naofumi, Nishiyama, Akira, Tamura, Tomohiko, Mizuguchi, Takeshi, Nakashima, Mitsuko, Tanaka, Fumiaki, Saitsu, Hirotomo, Matsumoto, Naomichi
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
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Journal Article
Reply to “GGC Repeat Expansion of NOTCH2NLC is Rare in European Leukoencephalopathy”
Doi, Hiroshi, Okubo, Masaki, Fukai, Ryoko, Fujita, Atsushi, Mitsuhashi, Satomi, Takahashi, Keita, Kunii, Misako, Tada, Mikiko, Fukuda, Hiromi, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Sone, Jun, Sobue, Gen, Takeuchi, Hideyuki, Matsumoto, Naomichi, Tanaka, Fumiaki
Published in Annals of neurology (01.09.2020)
Published in Annals of neurology (01.09.2020)
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Journal Article
De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures
Fukai, Ryoko, Saitsu, Hirotomo, Tsurusaki, Yoshinori, Sakai, Yasunari, Haginoya, Kazuhiro, Takahashi, Kazumasa, Hubshman, Monika Weisz, Okamoto, Nobuhiko, Nakashima, Mitsuko, Tanaka, Fumiaki, Miyake, Noriko, Matsumoto, Naomichi
Published in Journal of human genetics (01.05.2016)
Published in Journal of human genetics (01.05.2016)
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Journal Article
Case Report: Anti-MOG Antibody Seroconversion Accompanied by Dimethyl Fumarate Treatment
Takahashi, Keita, Takeuchi, Hideyuki, Fukai, Ryoko, Nakamura, Haruko, Morihara, Keisuke, Higashiyama, Yuichi, Takahashi, Toshiyuki, Doi, Hiroshi, Tanaka, Fumiaki
Published in Frontiers in immunology (15.02.2021)
Published in Frontiers in immunology (15.02.2021)
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A case of severe movement disorder with GNAO1 mutation responsive to topiramate
Sakamoto, Saori, Monden, Yukifumi, Fukai, Ryoko, Miyake, Noriko, Saito, Hiroshi, Miyauchi, Akihiko, Matsumoto, Ayumi, Nagashima, Masako, Osaka, Hitoshi, Matsumoto, Naomichi, Yamagata, Takanori
Published in Brain & development (Tokyo. 1979) (01.05.2017)
Published in Brain & development (Tokyo. 1979) (01.05.2017)
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SGTA associates with intracellular aggregates in neurodegenerative diseases
Kubota, Shun, Doi, Hiroshi, Koyano, Shigeru, Tanaka, Kenichi, Komiya, Hiroyasu, Katsumoto, Atsuko, Ikeda, Shingo, Hashiguchi, Shunta, Nakamura, Haruko, Fukai, Ryoko, Takahashi, Keita, Kunii, Misako, Tada, Mikiko, Takeuchi, Hideyuki, Tanaka, Fumiaki
Published in Molecular brain (23.03.2021)
Published in Molecular brain (23.03.2021)
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Journal Article
De Novo Truncating Mutation of TRIM8 Causes Early‐Onset Epileptic Encephalopathy
Sakai, Yasunari, Fukai, Ryoko, Matsushita, Yuki, Miyake, Noriko, Saitsu, Hirotomo, Akamine, Satoshi, Torio, Michiko, Sasazuki, Momoko, Ishizaki, Yoshito, Sanefuji, Masafumi, Torisu, Hiroyuki, Shaw, Chad A, Matsumoto, Naomichi, Hara, Toshiro
Published in Annals of human genetics (01.07.2016)
Published in Annals of human genetics (01.07.2016)
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Journal Article
An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome
Okuzono, Sayaka, Fukai, Ryoko, Noda, Marie, Miyake, Noriko, Lee, Sooyoung, Kaku, Noriyuki, Sanefuji, Masafumi, Akamine, Satoshi, Kanno, Shunsuke, Ishizaki, Yoshito, Torisu, Hiroyuki, Kira, Ryutaro, Matsumoto, Naomichi, Sakai, Yasunari, Ohga, Shouichi
Published in Brain & development (Tokyo. 1979) (01.04.2019)
Published in Brain & development (Tokyo. 1979) (01.04.2019)
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Journal Article
De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia
Fukai, Ryoko, Saitsu, Hirotomo, Okamoto, Nobuhiko, Sakai, Yasunari, Fattal-Valevski, Aviva, Masaaki, Shiina, Kitai, Yukihiro, Torio, Michiko, Kojima-Ishii, Kanako, Ihara, Kenji, Chernuha, Veronika, Nakashima, Mitsuko, Miyatake, Satoko, Tanaka, Fumiaki, Miyake, Noriko, Matsumoto, Naomichi
Published in Journal of human genetics (01.05.2016)
Published in Journal of human genetics (01.05.2016)
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Cerebrospinal fluid level of Nogo receptor 1 antagonist lateral olfactory tract usher substance (LOTUS) correlates inversely with the extent of neuroinflammation
Takahashi, Keita, Takeuchi, Hideyuki, Kurihara, Yuji, Doi, Hiroshi, Kunii, Misako, Tanaka, Kenichi, Nakamura, Haruko, Fukai, Ryoko, Tomita-Katsumoto, Atsuko, Tada, Mikiko, Higashiyama, Yuichi, Joki, Hideto, Koyano, Shigeru, Takei, Kohtaro, Tanaka, Fumiaki
Published in Journal of neuroinflammation (17.02.2018)
Published in Journal of neuroinflammation (17.02.2018)
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Journal Article
Non-traumatic Acute Epidural Hematoma in Multiple Sclerosis Treated With Fingolimod
Fukai, Ryoko, Takahashi, Keita, Abe, Hiroyuki, Higashiyama, Yuichi, Doi, Hiroshi, Takeuchi, Hideyuki, Tanaka, Fumiaki
Published in Frontiers in neurology (19.07.2019)
Published in Frontiers in neurology (19.07.2019)
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Journal Article
Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations
Doi, Hiroshi, Koyano, Shigeru, Miyatake, Satoko, Nakajima, Shinji, Nakazawa, Yuka, Kunii, Misako, Tomita-Katsumoto, Atsuko, Oda, Kayoko, Yamaguchi, Yukie, Fukai, Ryoko, Ikeda, Shingo, Kato, Rumiko, Ogata, Katsuhisa, Kubota, Shun, Hayashi, Noriko, Takahashi, Keita, Tada, Mikiko, Tanaka, Kenichi, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Ogi, Tomoo, Aihara, Michiko, Takeuchi, Hideyuki, Matsumoto, Naomichi, Tanaka, Fumiaki
Published in Journal of human genetics (01.04.2018)
Published in Journal of human genetics (01.04.2018)
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Co-occurrence of 22q11 deletion syndrome and hdr syndrome
Fukai, Ryoko, Ochi, Nobuhiko, Murakami, Akira, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Saitsu, Hirotomo, Matsumoto, Naomichi, Miyake, Noriko
Published in American journal of medical genetics. Part A (01.10.2013)
Published in American journal of medical genetics. Part A (01.10.2013)
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Journal Article
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Okubo, Masaki, Doi, Hiroshi, Fukai, Ryoko, Fujita, Atsushi, Mitsuhashi, Satomi, Hashiguchi, Shunta, Kishida, Hitaru, Ueda, Naohisa, Morihara, Keisuke, Ogasawara, Akihiro, Kawamoto, Yuko, Takahashi, Tatsuya, Takahashi, Keita, Nakamura, Haruko, Kunii, Misako, Tada, Mikiko, Katsumoto, Atsuko, Fukuda, Hiromi, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Suzuki, Junichiro, Ito, Yasuhiro, Sone, Jun, Sobue, Gen, Takeuchi, Hideyuki, Matsumoto, Naomichi, Tanaka, Fumiaki
Published in Annals of neurology (01.12.2019)
Published in Annals of neurology (01.12.2019)
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Journal Article
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay
Saitsu, Hirotomo, Fukai, Ryoko, Ben-Zeev, Bruria, Sakai, Yasunari, Mimaki, Masakazu, Okamoto, Nobuhiko, Suzuki, Yasuhiro, Monden, Yukifumi, Saito, Hiroshi, Tziperman, Barak, Torio, Michiko, Akamine, Satoshi, Takahashi, Nagahisa, Osaka, Hitoshi, Yamagata, Takanori, Nakamura, Kazuyuki, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Shiina, Masaaki, Ogata, Kazuhiro, Matsumoto, Naomichi
Published in European journal of human genetics : EJHG (01.01.2016)
Published in European journal of human genetics : EJHG (01.01.2016)
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Journal Article
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder
Takata, Atsushi, Miyake, Noriko, Tsurusaki, Yoshinori, Fukai, Ryoko, Miyatake, Satoko, Koshimizu, Eriko, Kushima, Itaru, Okada, Takashi, Morikawa, Mako, Uno, Yota, Ishizuka, Kanako, Nakamura, Kazuhiko, Tsujii, Masatsugu, Yoshikawa, Takeo, Toyota, Tomoko, Okamoto, Nobuhiko, Hiraki, Yoko, Hashimoto, Ryota, Yasuda, Yuka, Saitoh, Shinji, Ohashi, Kei, Sakai, Yasunari, Ohga, Shouichi, Hara, Toshiro, Kato, Mitsuhiro, Nakamura, Kazuyuki, Ito, Aiko, Seiwa, Chizuru, Shirahata, Emi, Osaka, Hitoshi, Matsumoto, Ayumi, Takeshita, Saoko, Tohyama, Jun, Saikusa, Tomoko, Matsuishi, Toyojiro, Nakamura, Takumi, Tsuboi, Takashi, Kato, Tadafumi, Suzuki, Toshifumi, Saitsu, Hirotomo, Nakashima, Mitsuko, Mizuguchi, Takeshi, Tanaka, Fumiaki, Mori, Norio, Ozaki, Norio, Matsumoto, Naomichi
Published in Cell reports (Cambridge) (16.01.2018)
Published in Cell reports (Cambridge) (16.01.2018)
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Panventriculomegaly with a wide foramen of Magendie and large cisterna magna
Kageyama, Hiroshi, Miyajima, Masakazu, Ogino, Ikuko, Nakajima, Madoka, Shimoji, Kazuaki, Fukai, Ryoko, Miyake, Noriko, Nishiyama, Kenichi, Matsumoto, Naomichi, Arai, Hajime
Published in Journal of neurosurgery (01.06.2016)
Published in Journal of neurosurgery (01.06.2016)
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