ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children
Sasaki, Masayuki, Sumitomo, Noriko, Shimizu‐Motohashi, Yuko, Takeshita, Eri, Kurosawa, Kenji, Kosaki, Kenjiro, Iwama, Kazuhiro, Mizuguchi, Takeshi, Matsumoto, Naomichi
Published in Developmental medicine and child neurology (01.01.2021)
Published in Developmental medicine and child neurology (01.01.2021)
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Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy
Sakamoto, Masamune, Iwama, Kazuhiro, Sekiguchi, Futoshi, Mashimo, Hideaki, Kumada, Satoko, Ishigaki, Keiko, Okamoto, Nobuhiko, Behnam, Mahdiyeh, Ghadami, Mohsen, Koshimizu, Eriko, Miyatake, Satoko, Mitsuhashi, Satomi, Mizuguchi, Takeshi, Takata, Atsushi, Saitsu, Hirotomo, Miyake, Noriko, Matsumoto, Naomichi
Published in Journal of human genetics (01.04.2021)
Published in Journal of human genetics (01.04.2021)
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Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
Takata, Atsushi, Nakashima, Mitsuko, Saitsu, Hirotomo, Mizuguchi, Takeshi, Mitsuhashi, Satomi, Takahashi, Yukitoshi, Okamoto, Nobuhiko, Osaka, Hitoshi, Nakamura, Kazuyuki, Tohyama, Jun, Haginoya, Kazuhiro, Takeshita, Saoko, Kuki, Ichiro, Okanishi, Tohru, Goto, Tomohide, Sasaki, Masayuki, Sakai, Yasunari, Miyake, Noriko, Miyatake, Satoko, Tsuchida, Naomi, Iwama, Kazuhiro, Minase, Gaku, Sekiguchi, Futoshi, Fujita, Atsushi, Imagawa, Eri, Koshimizu, Eriko, Uchiyama, Yuri, Hamanaka, Kohei, Ohba, Chihiro, Itai, Toshiyuki, Aoi, Hiromi, Saida, Ken, Sakaguchi, Tomohiro, Den, Kouhei, Takahashi, Rina, Ikeda, Hiroko, Yamaguchi, Tokito, Tsukamoto, Kazuki, Yoshitomi, Shinsaku, Oboshi, Taikan, Imai, Katsumi, Kimizu, Tomokazu, Kobayashi, Yu, Kubota, Masaya, Kashii, Hirofumi, Baba, Shimpei, Iai, Mizue, Kira, Ryutaro, Hara, Munetsugu, Ohta, Masayasu, Miyata, Yohane, Miyata, Rie, Takanashi, Jun-ichi, Matsui, Jun, Yokochi, Kenji, Shimono, Masayuki, Amamoto, Masano, Takayama, Rumiko, Hirabayashi, Shinichi, Aiba, Kaori, Matsumoto, Hiroshi, Nabatame, Shin, Shiihara, Takashi, Kato, Mitsuhiro, Matsumoto, Naomichi
Published in Nature communications (07.06.2019)
Published in Nature communications (07.06.2019)
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Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy
Saida, Ken, Tamaoki, Junya, Sasaki, Masayuki, Haniffa, Muzhirah, Koshimizu, Eriko, Sengoku, Toru, Maeda, Hiroki, Kikuchi, Masahiro, Yokoyama, Haruna, Sakamoto, Masamune, Iwama, Kazuhiro, Sekiguchi, Futoshi, Hamanaka, Kohei, Fujita, Atsushi, Mizuguchi, Takeshi, Ogata, Kazuhiro, Miyake, Noriko, Miyatake, Satoko, Kobayashi, Makoto, Matsumoto, Naomichi
Published in Clinical genetics (01.12.2021)
Published in Clinical genetics (01.12.2021)
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Journal Article
Nonsense variants in STAG2 result in distinct sex-dependent phenotypes
Aoi, Hiromi, Lei, Ming, Mizuguchi, Takeshi, Nishioka, Nobuko, Goto, Tomohide, Miyama, Sahoko, Suzuki, Toshifumi, Iwama, Kazuhiro, Uchiyama, Yuri, Mitsuhashi, Satomi, Itakura, Atsuo, Takeda, Satoru, Matsumoto, Naomichi
Published in Journal of human genetics (01.05.2019)
Published in Journal of human genetics (01.05.2019)
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MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration
Hamanaka, Kohei, Takata, Atsushi, Uchiyama, Yuri, Miyatake, Satoko, Miyake, Noriko, Mitsuhashi, Satomi, Iwama, Kazuhiro, Fujita, Atsushi, Imagawa, Eri, Alkanaq, Ahmed N, Koshimizu, Eriko, Azuma, Yoshiki, Nakashima, Mitsuko, Mizuguchi, Takeshi, Saitsu, Hirotomo, Wada, Yuka, Minami, Sawako, Katoh-Fukui, Yuko, Masunaga, Yohei, Fukami, Maki, Hasegawa, Tomonobu, Ogata, Tsutomu, Matsumoto, Naomichi
Published in Human molecular genetics (15.07.2019)
Published in Human molecular genetics (15.07.2019)
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RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy
Hamanaka, Kohei, Miyatake, Satoko, Koshimizu, Eriko, Tsurusaki, Yoshinori, Mitsuhashi, Satomi, Iwama, Kazuhiro, Alkanaq, Ahmed N., Fujita, Atsushi, Imagawa, Eri, Uchiyama, Yuri, Tawara, Nozomu, Ando, Yukio, Misumi, Yohei, Okubo, Mariko, Nakashima, Mitsuko, Mizuguchi, Takeshi, Takata, Atsushi, Miyake, Noriko, Saitsu, Hirotomo, Iida, Aritoshi, Nishino, Ichizo, Matsumoto, Naomichi
Published in Genetics in medicine (01.07.2019)
Published in Genetics in medicine (01.07.2019)
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Retraction Note to: Nonsense variants in STAG2 result in distinct sex-dependent phenotypes
Aoi, Hiromi, Lei, Ming, Mizuguchi, Takeshi, Nishioka, Nobuko, Goto, Tomohide, Miyama, Sahoko, Suzuki, Toshifumi, Iwama, Kazuhiro, Uchiyama, Yuri, Mitsuhashi, Satomi, Itakura, Atsuo, Takeda, Satoru, Matsumoto, Naomichi
Published in Journal of human genetics (01.09.2020)
Published in Journal of human genetics (01.09.2020)
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Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic
Hamanaka, Kohei, Miyatake, Satoko, Zerem, Ayelet, Lev, Dorit, Blumkin, Luba, Yokochi, Kenji, Fujita, Atsushi, Imagawa, Eri, Iwama, Kazuhiro, Nakashima, Mitsuko, Mitsuhashi, Satomi, Mizuguchi, Takeshi, Takata, Atsushi, Miyake, Noriko, Saitsu, Hirotomo, van der Knaap, Marjo S, Lerman-Sagie, Tally, Matsumoto, Naomichi
Published in Journal of human genetics (01.12.2018)
Published in Journal of human genetics (01.12.2018)
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Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency
Morita, Atsushi, Enokizono, Takashi, Ohto, Tatsuyuki, Tanaka, Mai, Watanabe, Shiena, Takada, Yui, Iwama, Kazuhiro, Mizuguchi, Takeshi, Matsumoto, Naomichi, Morita, Masashi, Takashima, Shigeo, Shimozawa, Nobuyuki, Takada, Hidetoshi
Published in Brain & development (Tokyo. 1979) (01.03.2021)
Published in Brain & development (Tokyo. 1979) (01.03.2021)
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A novel mutation in SLC1A3 causes episodic ataxia
Iwama, Kazuhiro, Iwata, Aya, Shiina, Masaaki, Mitsuhashi, Satomi, Miyatake, Satoko, Takata, Atsushi, Miyake, Noriko, Ogata, Kazuhiro, Ito, Shuichi, Mizuguchi, Takeshi, Matsumoto, Naomichi
Published in Journal of human genetics (01.02.2018)
Published in Journal of human genetics (01.02.2018)
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Journal Article
Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation
Matsumoto, Ayumi, Nagashima, Masako, Iwama, Kazuhiro, Mizuguchi, Takeshi, Makino, Shinji, Ikeda, Takahiro, Muramatsu, Kazuhiro, Matsumoto, Naomichi, Yamagata, Takanori, Osaka, Hitoshi
Published in Brain & development (Tokyo. 1979) (01.09.2019)
Published in Brain & development (Tokyo. 1979) (01.09.2019)
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Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome
Seyama, Rie, Uchiyama, Yuri, Ceroni, José Ricard Magliocco, Kim, Veronica Eun Hue, Furquim, Isabel, Honjo, Rachel S., Castro, Matheus Augusto Araujo, Pires, Lucas Vieira Lacerda, Aoi, Hiromi, Iwama, Kazuhiro, Hamanaka, Kohei, Fujita, Atsushi, Tsuchida, Naomi, Koshimizu, Eriko, Misawa, Kazuharu, Miyatake, Satoko, Mizuguchi, Takeshi, Makino, Shintaro, Itakura, Atsuo, Bertola, Débora R., Kim, Chong Ae, Matsumoto, Naomichi
Published in Genomics (San Diego, Calif.) (01.09.2022)
Published in Genomics (San Diego, Calif.) (01.09.2022)
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Journal Article
Nonsense variants of STAG2 result in distinct congenital anomalies
Aoi, Hiromi, Lei, Ming, Mizuguchi, Takeshi, Nishioka, Nobuko, Goto, Tomohide, Miyama, Sahoko, Suzuki, Toshifumi, Iwama, Kazuhiro, Uchiyama, Yuri, Mitsuhashi, Satomi, Itakura, Atsuo, Takeda, Satoru, Matsumoto, Naomichi
Published in Human genome variation (18.09.2020)
Published in Human genome variation (18.09.2020)
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Severe Early-Onset Vitamin K Deficiency Bleeding in a Neonate Born to a Mother with Crohn's Disease in Clinical Remission: A Case Report
Ikenaga, Chiho, Uchi, Ryosuke, Ishida, Fumihiko, Hirata, Michisato, Iwama, Kazuhiro, Ina, Shinichiro, Tatsuno, Yuko, Kemmotsu, Takahiro, Shibasaki, Jun, Ito, Shuichi
Published in American journal of perinatology reports (01.01.2024)
Published in American journal of perinatology reports (01.01.2024)
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De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies
Hamanaka, Kohei, Sugawara, Yuji, Shimoji, Takeyoshi, Nordtveit, Tone Irene, Kato, Mitsuhiro, Nakashima, Mitsuko, Saitsu, Hirotomo, Suzuki, Toshimitsu, Yamakawa, Kazuhiro, Aukrust, Ingvild, Houge, Gunnar, Mitsuhashi, Satomi, Takata, Atsushi, Iwama, Kazuhiro, Alkanaq, Ahmed, Fujita, Atsushi, Imagawa, Eri, Mizuguchi, Takeshi, Miyake, Noriko, Miyatake, Satoko, Matsumoto, Naomichi
Published in European journal of human genetics : EJHG (01.03.2019)
Published in European journal of human genetics : EJHG (01.03.2019)
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Basal ganglia calcification in a patient with static encephalopathy of childhood with neurodegeneration in adulthood/β‐propeller protein‐associated neurodegeneration
Umehara, Fujio, Iwama, Kazuhiro, Mizuguchi, Takeshi, Matsumoto, Naomichi
Published in Neurology and clinical neuroscience (01.09.2020)
Published in Neurology and clinical neuroscience (01.09.2020)
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Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy
Iwama, Kazuhiro, Takaori, Toru, Fukushima, Ai, Tohyama, Jun, Ishiyama, Akihiko, Ohba, Chihiro, Mitsuhashi, Satomi, Miyatake, Satoko, Takata, Atsushi, Miyake, Noriko, Ito, Shuichi, Saitsu, Hirotomo, Mizuguchi, Takeshi, Matsumoto, Naomichi
Published in Journal of human genetics (01.03.2018)
Published in Journal of human genetics (01.03.2018)
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Journal Article
De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies
Saikusa, Tomoko, Hara, Munetsugu, Iwama, Kazuhiro, Yuge, Kotaro, Ohba, Chihiro, Okada, Jun-ichiro, Hisano, Tadashi, Yamashita, Yushiro, Okamoto, Nobuhiko, Saitsu, Hirotomo, Matsumoto, Naomichi, Matsuishi, Toyojiro
Published in Brain & development (Tokyo. 1979) (01.05.2018)
Published in Brain & development (Tokyo. 1979) (01.05.2018)
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A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl
Yuge, Kotaro, Iwama, Kazuhiro, Yonee, Chihiro, Matsufuji, Mayumi, Sano, Nozomi, Saikusa, Tomoko, Yae, Yukako, Yamashita, Yushiro, Mizuguchi, Takeshi, Matsumoto, Naomichi, Matsuishi, Toyojiro
Published in Brain & development (Tokyo. 1979) (01.06.2018)
Published in Brain & development (Tokyo. 1979) (01.06.2018)
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