Search Results - "NABATAME, Shin"

The anatomical and functional rationale for conducting dysphagia rehabilitation by Nabatame, Shin

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Introduction and modification of the ketogenic diet in an adult patient with glucose transporter 1 deficiency syndrome by Nabatame, Shin, Kishimoto, Kanako, Mano, Toshiyuki

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Clinical Factors Related to Outcomes in Pediatric Epilepsy Surgery: Insight into Predictors of Poor Surgical Outcome by OSHINO, Satoru, TANI, Naoki, KHOO, Hui Ming, KAGITANI-SHIMONO, Kuriko, NABATAME, Shin, TOMINAGA, Koji, YANAGISAWA, Takufumi, HIRATA, Masayuki, KISHIMA, Haruhiko

“…Successful surgery for drug-resistant pediatric epilepsy can facilitate motor and cognitive development and improve quality of life by resolution or reduction…”
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High-dose pyridoxine treatment for inherited glycosylphosphatidylinositol deficiency by Tanigawa, Junpei, Nabatame, Shin, Tominaga, Koji, Nishimura, Yoko, Maegaki, Yoshihiro, Kinosita, Taroh, Murakami, Yoshiko, Ozono, Keiichi

“…We aimed to assess the efficacy and safety of high-dose pyridoxine treatment for seizures and its effects on development in patients with inherited…”
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Establishment of mouse model of inherited PIGO deficiency and therapeutic potential of AAV-based gene therapy by Kuwayama, Ryoko, Suzuki, Keiichiro, Nakamura, Jun, Aizawa, Emi, Yoshioka, Yoshichika, Ikawa, Masahito, Nabatame, Shin, Inoue, Ken-ichi, Shimmyo, Yoshiari, Ozono, Keiichi, Kinoshita, Taroh, Murakami, Yoshiko

“…Inherited glycosylphosphatidylinositol (GPI) deficiency (IGD) is caused by mutations in GPI biosynthesis genes. The mechanisms of its systemic, especially…”
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De novo KCNT1 mutations in early‐onset epileptic encephalopathy by Ohba, Chihiro, Kato, Mitsuhiro, Takahashi, Nobuya, Osaka, Hitoshi, Shiihara, Takashi, Tohyama, Jun, Nabatame, Shin, Azuma, Junji, Fujii, Yuji, Hara, Munetsugu, Tsurusawa, Reimi, Inoue, Takahito, Ogata, Reina, Watanabe, Yoriko, Togashi, Noriko, Kodera, Hirofumi, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Tanaka, Fumiaki, Saitsu, Hirotomo, Matsumoto, Naomichi

“…Summary KCNT1 mutations have been found in epilepsy of infancy with migrating focal seizures (EIMFS; also known as migrating partial seizures in infancy),…”
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Prenatal clinical manifestations in individuals with COL4A1/2 variants by Itai, Toshiyuki, Miyatake, Satoko, Taguri, Masataka, Nozaki, Fumihito, Ohta, Masayasu, Osaka, Hitoshi, Morimoto, Masafumi, Tandou, Tomoko, Nohara, Fumikatsu, Takami, Yuichi, Yoshioka, Fumitaka, Shimokawa, Shoko, Okuno-Yuguchi, Jiu, Motobayashi, Mitsuo, Takei, Yuko, Fukuyama, Tetsuhiro, Kumada, Satoko, Miyata, Yohane, Ogawa, Chikako, Maki, Yuki, Togashi, Noriko, Ishikura, Teruyuki, Kinoshita, Makoto, Mitani, Yusuke, Kanemura, Yonehiro, Omi, Tsuyoshi, Ando, Naoki, Hattori, Ayako, Saitoh, Shinji, Kitai, Yukihiro, Hirai, Satori, Arai, Hiroshi, Ishida, Fumihiko, Taniguchi, Hidetoshi, Kitabatake, Yasuji, Ozono, Keiichi, Nabatame, Shin, Smigiel, Robert, Kato, Mitsuhiro, Tanda, Koichi, Saito, Yoshihiko, Ishiyama, Akihiko, Noguchi, Yushi, Miura, Mazumi, Nakano, Takaaki, Hirano, Keiko, Honda, Ryoko, Kuki, Ichiro, Takanashi, Jun-Ichi, Takeuchi, Akihito, Fukasawa, Tatsuya, Seiwa, Chizuru, Harada, Atsuko, Yachi, Yusuke, Higashiyama, Hiroyuki, Terashima, Hiroshi, Kumagai, Tadayuki, Hada, Satoshi, Abe, Yoshiichi, Miyagi, Etsuko, Uchiyama, Yuri, Fujita, Atsushi, Imagawa, Eri, Azuma, Yoshiteru, Hamanaka, Kohei, Koshimizu, Eriko, Mitsuhashi, Satomi, Mizuguchi, Takeshi, Takata, Atsushi, Miyake, Noriko, Tsurusaki, Yoshinori, Doi, Hiroshi, Nakashima, Mitsuko, Saitsu, Hirotomo, Matsumoto, Naomichi

“…Variants in the type IV collagen gene ( ) cause early-onset cerebrovascular diseases. Most individuals are diagnosed postnatally, and the prenatal features of…”
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Clinical evaluation of neuroinflammation in child-onset focal epilepsy: a translocator protein PET study by Kagitani-Shimono, Kuriko, Kato, Hiroki, Kuwayama, Ryoko, Tominaga, Koji, Nabatame, Shin, Kishima, Haruhiko, Hatazawa, Jun, Taniike, Masako

“…Neuroinflammation is associated with various chronic neurological diseases, including epilepsy; however, neuroimaging approaches for visualizing…”
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Early diagnosis of MECP2 duplication syndrome: Insights from a nationwide survey in Japan by Takeguchi, Ryo, Takahashi, Satoru, Akaba, Yuichi, Tanaka, Ryosuke, Nabatame, Shin, Kurosawa, Kenji, Matsuishi, Toyojiro, Itoh, Masayuki

“…This study aimed to elucidate the clinical characteristics of MECP2 duplication syndrome (MDS), particularly at initial presentation, and to provide clinical…”
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Ketogenic diet for focal epilepsy with SPTAN1 encephalopathy by Kishimoto, Kanako, Nabatame, Shin, Kagitani‐Shimono, Kuriko, Kato, Mitsuhiro, Tohyama, Jun, Nakashima, Mitsuko, Matsumoto, Naomichi, Ozono, Keiichi

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Meaningful word acquisition is associated with walking ability over 10 years in Rett syndrome by Saikusa, Tomoko, Kawaguchi, Machiko, Tanioka (Tetsu T), Tetsuji, Nabatame (Shin N), Shin, Takahashi, Satoru, Yuge, Kotaro, Nagamitsu, Shin-ichiro, Takahashi, Tomoyuki, Yamashita, Yushiro, Kobayashi, Yasuyuki, Hirayama, Chisato, Kakuma, Tatsuyuki, Matsuishi, Toyojiro, Itoh, Masayuki

“…To investigate walking ability in Japanese patients with Rett syndrome (RTT). Walking ability was assessed in 100 female Japanese patients with RTT using…”
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De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain by Ohba, Chihiro, Nabatame, Shin, Iijima, Yoshitaka, Nishiyama, Kiyomi, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Tanaka, Fumiaki, Ozono, Keiichi, Saitsu, Hirotomo, Matsumoto, Naomichi

“…Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by MECP2 mutations. We identified a de novo WDR45 mutation, which caused a subtype of…”
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The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15 by Saffari, Afshin, Kellner, Melanie, Jordan, Catherine, Rosengarten, Helena, Mo, Alisa, Zhang, Bo, Strelko, Oleksandr, Neuser, Sonja, Davis, Marie Y, Yoshikura, Nobuaki, Futamura, Naonobu, Takeuchi, Tomoya, Nabatame, Shin, Ishiura, Hiroyuki, Tsuji, Shoji, Aldeen, Huda Shujaa, Cali, Elisa, Rocca, Clarissa, Houlden, Henry, Efthymiou, Stephanie, Assmann, Birgit, Yoon, Grace, Trombetta, Bianca A, Kivisäkk, Pia, Eichler, Florian, Nan, Haitian, Takiyama, Yoshihisa, Tessa, Alessandra, Santorelli, Filippo M, Sahin, Mustafa, Blackstone, Craig, Yang, Edward, Schüle, Rebecca, Ebrahimi-Fakhari, Darius

“…Abstract In the field of hereditary spastic paraplegia (HSP), progress in molecular diagnostics needs to be translated into robust phenotyping studies to…”
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Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome by Nabatame, Shin, Tanigawa, Junpei, Tominaga, Koji, Kagitani-Shimono, Kuriko, Yanagihara, Keiko, Imai, Katsumi, Ando, Toru, Tsuyusaki, Yu, Araya, Nami, Matsufuji, Mayumi, Natsume, Jun, Yuge, Kotaro, Bratkovic, Drago, Arai, Hiroshi, Okinaga, Takeshi, Matsushige, Takeshi, Azuma, Yoshiteru, Ishihara, Naoko, Miyatake, Satoko, Kato, Mitsuhiro, Matsumoto, Naomichi, Okamoto, Nobuhiko, Takahashi, Satoru, Hattori, Satoshi, Ozono, Keiichi

“…In glucose transporter 1 deficiency syndrome (Glut1DS), cerebrospinal fluid glucose (CSFG) and CSFG to blood glucose ratio (CBGR) show significant differences…”
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Potential risks associated with laparoscopic gastrostomy in patients with the COL4A1 variant: Two case reports by Deguchi, Koichi, Saka, Ryuta, Todo, Marie, Toyama, Chiyoshi, Watanabe, Miho, Masahata, Kazunori, Kamiyama, Masafumi, Tazuke, Yuko, Nabatame, Shin, Itai, Toshiyuki, Miyatake, Satoko, Matsumoto, Naomichi, Okuyama, Hiroomi

“…The COL4A1 (collagen Type 4 alpha1) pathogenic variant is associated with porencephaly and schizencephaly and accounts for approximately 20% of these patients…”
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Ketogenic diet using a Japanese ketogenic milk for patients with epilepsy: A multi-institutional study by Kumada, Tomohiro, Imai, Katsumi, Takahashi, Yukitoshi, Nabatame, Shin, Oguni, Hirokazu

“…In Japan, Meiji 817-B (M817-B), a powdered ketogenic milk, has been available since the ketogenic diet was introduced to infants and tube-fed children with…”
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Hemiplegic migraine type 2 caused by a novel variant within the P-type ATPase motif in ATP1A2 concomitant with a CACNA1A variant by Kubota, Tomoya, Nabatame, Shin, Sato, Ruka, Hama, Manami, Nishiike, Ujiakira, Mochizuki, Hideki, Takahashi, Masanori P., Takeshima, Takao

“…Familial hemiplegic migraine (FHM) is an inherited autosomal dominant disorder characterized by migraine with reversible hemiplegia. FHM1 is caused by variants…”
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Lenticular nuclei to thalamic ratio on PET is useful for diagnosis of GLUT1 deficiency syndrome by Natsume, Jun, Ishihara, Naoko, Azuma, Yoshiteru, Nakata, Tomohiko, Takeuchi, Tomoya, Tanaka, Masaharu, Sakaguchi, Yoko, Okai, Yu, Ito, Yuji, Yamamoto, Hiroyuki, Ohno, Atsuko, Kidokoro, Hiroyuki, Hattori, Ayako, Nabatame, Shin, Kato, Katsuhiko

“…To establish an objective method of [18F]-fluorodeoxyglucose positron emission tomography (FDG-PET) that can assist in the diagnosis of glucose transporter 1…”
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Comparison of Silent and Conventional MR Imaging for the Evaluation of Myelination in Children by Matsuo-Hagiyama, Chisato, Watanabe, Yoshiyuki, Tanaka, Hisashi, Takahashi, Hiroto, Arisawa, Atsuko, Yoshioka, Eri, Nabatame, Shin, Nakano, Sayaka, Tomiyama, Noriyuki

“…Purpose: Silent magnetic resonance imaging (MRI) scans produce reduced acoustic noise and are considered more gentle for sedated children. The aim of this…”
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Perioperative management of surgical orthodontic treatment in a patient with glucose transporter 1 deficiency: report of a case and review of the literature by Kyoko, Nishiyama, Masakazu, Hamada, Shin, Nabatame, Hidetaka, Shimizu, Narikazu, Uzawa

“…Glucose transporter 1 (GLUT1) deficiency is a rare cerebral metabolic disorder caused by the shortage of glucose supply to the brain. For this disease,…”
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