A case of congenital myopathy accompanied by tremor due to a MYBPC1 mutation
Shiraishi, Kazuhiro, Tsuburaya, Rie S, Mukaida, Shoichi, Yano, Naoko, Yoshida, Takeshi
Published in Pediatric investigation (01.01.2022)
Published in Pediatric investigation (01.01.2022)
Get full text
Journal Article
Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder
Ohori, Sachiko, Tsuburaya, Rie S, Kinoshita, Masako, Miyagi, Etsuko, Mizuguchi, Takeshi, Mitsuhashi, Satomi, Frith, Martin C, Matsumoto, Naomichi
Published in Journal of human genetics (01.07.2021)
Published in Journal of human genetics (01.07.2021)
Get full text
Journal Article
Anti-myelin oligodendrocyte glycoprotein (MOG) antibodies in a Japanese boy with recurrent optic neuritis
Tsuburaya, Rie S, Miki, Naoki, Tanaka, Keiko, Kageyama, Takashi, Irahara, Kaori, Mukaida, Souichi, Shiraishi, Kazuhiro, Tanaka, Masami
Published in Brain & development (Tokyo. 1979) (01.01.2015)
Published in Brain & development (Tokyo. 1979) (01.01.2015)
Get full text
Journal Article
Sarcoplasmic MxA expression: A valuable marker of dermatomyositis
Uruha, Akinori, Nishikawa, Atsuko, Tsuburaya, Rie S, Hamanaka, Kohei, Kuwana, Masataka, Watanabe, Yurika, Suzuki, Shigeaki, Suzuki, Norihiro, Nishino, Ichizo
Published in Neurology (31.01.2017)
Published in Neurology (31.01.2017)
Get more information
Journal Article
Hepatitis C virus infection in inclusion body myositis: A case-control study
Uruha, Akinori, Noguchi, Satoru, Hayashi, Yukiko K, Tsuburaya, Rie S, Yonekawa, Takahiro, Nonaka, Ikuya, Nishino, Ichizo
Published in Neurology (19.01.2016)
Published in Neurology (19.01.2016)
Get more information
Journal Article
Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment
Mizuguchi, Takeshi, Toyota, Tomoko, Miyatake, Satoko, Mitsuhashi, Satomi, Doi, Hiroshi, Kudo, Yosuke, Kishida, Hitaru, Hayashi, Noriko, Tsuburaya, Rie S, Kinoshita, Masako, Fukuyama, Tetsuhiro, Fukuda, Hiromi, Koshimizu, Eriko, Tsuchida, Naomi, Uchiyama, Yuri, Fujita, Atsushi, Takata, Atsushi, Miyake, Noriko, Kato, Mitsuhiro, Tanaka, Fumiaki, Adachi, Hiroaki, Matsumoto, Naomichi
Published in Brain (London, England : 1878) (07.05.2021)
Published in Brain (London, England : 1878) (07.05.2021)
Get full text
Journal Article
Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology
Tsuburaya, Rie S, Monma, Kazunari, Oya, Yasushi, Nakayama, Takahiro, Fukuda, Tokiko, Sugie, Hideo, Hayashi, Yukiko K, Nonaka, Ikuya, Nishino, Ichizo
Published in Neuromuscular disorders : NMD (01.05.2012)
Published in Neuromuscular disorders : NMD (01.05.2012)
Get full text
Journal Article
Utility of real-time three-dimensional echocardiography for Duchenne muscular dystrophy with echocardiographic limitations
Tsuburaya, Rie S, Uchizumi, Hiroshi, Ueda, Michio, Demura, Yutaka, Mukaida, Souichi, Sudou, Shinji, Irahara, Kaori, Sakai, Naoko, Shiraishi, Kazuhiro
Published in Neuromuscular disorders : NMD (01.05.2014)
Published in Neuromuscular disorders : NMD (01.05.2014)
Get full text
Journal Article
Erratum to: Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment
Mizuguchi, Takeshi, Toyota, Tomoko, Miyatake, Satoko, Mitsuhashi, Satomi, Doi, Hiroshi, Kudo, Yosuke, Kishida, Hitaru, Hayashi, Noriko, Tsuburaya, Rie S, Kinoshita, Masako, Fukuyama, Tetsuhiro, Fukuda, Hiromi, Koshimizu, Eriko, Tsuchida, Naomi, Uchiyama, Yuri, Fujita, Atsushi, Takata, Atsushi, Miyake, Noriko, Kato, Mitsuhiro, Tanaka, Fumiaki, Adachi, Hiroaki, Matsumoto, Naomichi
Published in Brain (London, England : 1878) (04.09.2021)
Published in Brain (London, England : 1878) (04.09.2021)
Get full text
Journal Article