Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study
Kimizu, Tomokazu, Ida, Shinobu, Oki, Keisuke, Shima, Morimasa, Nishimoto, Shizuka, Nakajima, Ken, Ikeda, Tae, Mogami, Yukiko, Yanagihara, Keiko, Matsuda, Keiko, Nishi, Eriko, Hasegawa, Yuiko, Nozaki, Masatoshi, Fujita, Hiroshi, Irie, Akemi, Katayama, Toru, Okamoto, Nobuhiko, Imai, Kohsuke, Nishio, Hisahide, Suzuki, Yasuhiro
Published in Brain & development (Tokyo. 1979) (01.08.2023)
Published in Brain & development (Tokyo. 1979) (01.08.2023)
Get full text
Journal Article
A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2 : Clinical features and treatment for epilepsy
Kimizu, Tomokazu, Takahashi, Yukitoshi, Oboshi, Taikan, Horino, Asako, Koike, Takayoshi, Yoshitomi, Shinsaku, Mori, Tatsuo, Yamaguchi, Tokito, Ikeda, Hiroko, Okamoto, Nobuhiko, Nakashima, Mitsuko, Saitsu, Hirotomo, Kato, Mitsuhiro, Matsumoto, Naomichi, Imai, Katsumi
Published in Brain & development (Tokyo. 1979) (01.03.2017)
Published in Brain & development (Tokyo. 1979) (01.03.2017)
Get full text
Journal Article
Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan
Kimizu, Tomokazu, Ida, Shinobu, Okamoto, Kentaro, Awano, Hiroyuki, Niba, Emma Tabe Eko, Wijaya, Yogik Onky Silvana, Okazaki, Shin, Shimomura, Hideki, Lee, Tomoko, Tominaga, Koji, Nabatame, Shin, Saito, Toshio, Hamazaki, Takashi, Sakai, Norio, Saito, Kayoko, Shintaku, Haruo, Nozu, Kandai, Takeshima, Yasuhiro, Iijima, Kazumoto, Nishio, Hisahide, Shinohara, Masakazu
Published in International journal of neonatal screening (20.07.2021)
Published in International journal of neonatal screening (20.07.2021)
Get full text
Journal Article
Benign neonatal sleep myoclonus: Our experience of 15 Japanese cases
Suzuki, Yasuhiro, Toshikawa, Hiromitsu, Kimizu, Tomokazu, Kimura, Sadami, Ikeda, Tae, Mogami, Yukiko, Yanagihara, Keiko
Published in Brain & development (Tokyo. 1979) (01.01.2015)
Published in Brain & development (Tokyo. 1979) (01.01.2015)
Get full text
Journal Article
Rasmussen syndrome (encephalitis)
Takahashi, Yukitoshi, Kimizu, Tomokazu, Koike, Takayoshi, Horino, Asako, Nakagawa, Naoko
Published in Nihon rinshō (01.09.2015)
Get more information
Published in Nihon rinshō (01.09.2015)
Journal Article
Successful treatment with intravenous steroid pulse therapy of a boy with recurrent idiopathic sixth nerve palsy
Yamada, Keitaro, Kimizu, Tomokazu, Kimura, Sadami, Ikeda, Tae, Mogami, Yukiko, Yanagihara, Keiko, Suzuki, Yasuhiro
Published in No to hattatsu (01.07.2014)
Published in No to hattatsu (01.07.2014)
Get more information
Journal Article
Evaluation of six cases with hypothalamic hamartoma: the relationship between MRI findings and clinical features
Ogawa, Kana, Mogami, Yukiko, Toshikawa, Hiromitsu, Kimizu, Tomokazu, Kimura, Sadami, Ikeda, Tae, Yanagihara, Keiko, Tajiri, Hitoshi, Suzuki, Yasuhiro
Published in No to hattatsu (01.11.2014)
Published in No to hattatsu (01.11.2014)
Get more information
Journal Article
Methylprednisolone pulse therapy in 31 patients with refractory epilepsy: A single-center retrospective analysis
Kimizu, Tomokazu, Takahashi, Yukitoshi, Oboshi, Taikan, Horino, Asako, Omatsu, Hirowo, Koike, Takayoshi, Yoshitomi, Shinsaku, Yamaguchi, Tokito, Otani, Hideyuki, Ikeda, Hiroko, Imai, Katsumi, Shigematsu, Hideo
Published in Epilepsy & behavior (01.08.2020)
Published in Epilepsy & behavior (01.08.2020)
Get full text
Journal Article
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)
Get full text
Journal Article
Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years
Kimizu, Tomokazu, Nozaki, Masatoshi, Okada, Yousuke, Sawada, Akihisa, Morisaki, Misaki, Fujita, Hiroshi, Irie, Akemi, Matsuda, Keiko, Hasegawa, Yuiko, Nishi, Eriko, Okamoto, Nobuhiko, Kawai, Masanobu, Imai, Kohsuke, Suzuki, Yasuhiro, Wada, Kazuko, Mitsuda, Nobuaki, Ida, Shinobu
Published in Genes (28.02.2024)
Published in Genes (28.02.2024)
Get full text
Journal Article
Chronic dysfunction of blood-brain barrier in patients with post-encephalitic/encephalopathic epilepsy
Kimizu, Tomokazu, Takahashi, Yukitoshi, Oboshi, Taikan, Horino, Asako, Omatsu, Hirowo, Koike, Takayoshi, Yoshitomi, Shinsaku, Yamaguchi, Tokito, Otani, Hideyuki, Ikeda, Hiroko, Imai, Katsumi, Shigematsu, Hideo, Inoue, Yushi
Published in Seizure (London, England) (01.12.2018)
Published in Seizure (London, England) (01.12.2018)
Get full text
Journal Article
Predictive value of EEG findings at control of epileptic spasms for seizure relapse in patients with West syndrome
Yamada, Keitaro, Toribe, Yasuhisa, Kimizu, Tomokazu, Kimura, Sadami, Ikeda, Tae, Mogami, Yukiko, Yanagihara, Keiko, Mano, Toshiyuki, Suzuki, Yasuhiro
Published in Seizure (London, England) (01.10.2014)
Published in Seizure (London, England) (01.10.2014)
Get full text
Journal Article
Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy
Niba, Emma Tabe Eko, Nishio, Hisahide, Wijaya, Yogik Onky Silvana, Ar Rochmah, Mawaddah, Takarada, Toru, Takeuchi, Atsuko, Kimizu, Tomokazu, Okamoto, Kentaro, Saito, Toshio, Awano, Hiroyuki, Takeshima, Yasuhiro, Shinohara, Masakazu
Published in Genes (24.01.2022)
Published in Genes (24.01.2022)
Get full text
Journal Article
A case of status dystonicus with symptoms improved by propofol
Mayumi, Azusa, Tachibana, Kazuya, Kimizu, Tomokazu, Kyogoku, Miyako, Moon, Kazue, Tsuda, Masayo, Shimizu, Yoshiyuki, Takeuchi, Muneyuki
Published in Journal of the Japanese Society of Intensive Care Medicine (01.01.2017)
Published in Journal of the Japanese Society of Intensive Care Medicine (01.01.2017)
Get full text
Journal Article
Ictal 99m Tc-Ethyl Cysteinate Dimer SPECT Findings of a Girl With Refractory Localization-Related Epilepsy Who Developed Transient Ictal Bradycardia
Kimizu, Tomokazu, Toshikawa, Hiromitsu, Kimura, Sadami, Ikeda, Tae, Mogami, Yukiko, Yanagihara, Keiko, Kishima, Haruhiko, Suzuki, Yasuhiro
Published in Child neurology open (01.09.2015)
Published in Child neurology open (01.09.2015)
Get full text
Journal Article
Ictal 99mTc-Ethyl Cysteinate Dimer SPECT Findings of a Girl With Refractory Localization-Related Epilepsy Who Developed Transient Ictal Bradycardia
Kimizu, Tomokazu, Toshikawa, Hiromitsu, Kimura, Sadami, Ikeda, Tae, Mogami, Yukiko, Yanagihara, Keiko, Kishima, Haruhiko, Suzuki, Yasuhiro
Published in Child neurology open (21.07.2015)
Published in Child neurology open (21.07.2015)
Get full text
Journal Article